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
OR4K5	79317	broad.mit.edu	37	14	20389117	20389117	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20389117A>G	ENST00000315915.4	+	1	377	c.352A>G	c.(352-354)Atg>Gtg	p.M118V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	118					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)		ACTTGTTTCGATGGCCTATGA	0.448000													21	337					0	0	1	0	0
ASB18	401036	broad.mit.edu	37	2	237150052	237150052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:237150052C>T	ENST00000330842.6	-	1	206	c.112G>A	c.(112-114)Gtc>Atc	p.V38I	ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	67					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TCCCCTGCGACCAGGGCAGTG	0.532000													8	50					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99819333	99819333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:99819333G>A	ENST00000254759.3	-	6	884	c.860C>T	c.(859-861)cCt>cTt	p.P287L	COQ3_ENST00000369242.1_Missense_Mutation_p.P59L|COQ3_ENST00000369240.1_Missense_Mutation_p.P59L	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	287				PET -> LEP (in Ref. 1; AAN76515).	glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TAGTGTTTCAGGTGAAACAAA	0.348000													6	32					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151160962	151160962	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:151160962A>C	ENST00000282466.3	-	5	5772	c.5773T>G	c.(5773-5775)Tcg>Gcg	p.S1925A		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	1925	Ig-like C2-type 5.				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)			CTTCGCTCCGAACCAGTGGAA	0.443000													14	181					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934906	113934906	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:113934906T>A	ENST00000335953.4	+	2	1264	c.884T>A	c.(883-885)cTa>cAa	p.L295Q	ZBTB16_ENST00000392996.2_Missense_Mutation_p.L295Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	295					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)		GCTAGGGAGCTACACTATGGG	0.657000													11	36					0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151097245	151097245	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:151097245C>A	ENST00000334493.6	-	2	676	c.246G>T	c.(244-246)tgG>tgT	p.W82C	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.W82C	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	82										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCACGTCCCACCTCCTGA	0.597000													4	23					0.150653	0.152925	1	1	0
MGAM	8972	broad.mit.edu	37	7	141727028	141727028	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141727028G>T	ENST00000475668.2	+	9	1149		c.e9+1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)	ATATCTAGAGGTAAACTTAGG	0.413000													18	85					1.02788e-11	1.49915e-11	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090943	91090943	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:91090943C>T	ENST00000373094.1	+	1	1285	c.440C>T	c.(439-441)tCa>tTa	p.S147L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S147L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S147L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S147L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	147	Cadherin 2.				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						ATCAACATATCAATTCCAGAG	0.363000													11	31					0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228596	25228596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:25228596G>A	ENST00000219660.5	+	2	215	c.90G>A	c.(88-90)tgG>tgA	p.W30*	AQP8_ENST00000566125.1_Nonsense_Mutation_p.W24*	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	30					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAGTGTCCTGGTACGAACGGT	0.572000													27	279					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	23					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058508	95058508	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:95058508A>C	ENST00000329597.7	+	6	1363	c.1153A>C	c.(1153-1155)Aac>Cac	p.N385H	SERPINA5_ENST00000554276.1_Missense_Mutation_p.N385H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.N385H|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554866.1_Missense_Mutation_p.N385H	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	385					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTAGTGTTCAACAGGCCCTT	0.552000													58	359					0	0	1	0	0
NAB1	4664	broad.mit.edu	37	2	191524250	191524250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:191524250G>C	ENST00000337386.5	+	4	809	c.348G>C	c.(346-348)agG>agC	p.R116S	NAB1_ENST00000409581.1_Missense_Mutation_p.R116S|NAB1_ENST00000357215.5_Missense_Mutation_p.R116S|NAB1_ENST00000409641.1_Missense_Mutation_p.R116S	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	116					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GTTATGAAAGGAGTAGCAATG	0.498000													4	51					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8159848	8159848	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:8159848C>A	ENST00000314666.6	+	8	961	c.828C>A	c.(826-828)atC>atA	p.I276I	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	276					'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)	ACAGTGCAATCCAGGGAAAGG	0.602000													14	53					1.49906e-05	1.79976e-05	1	1	0
ZIC4	84107	broad.mit.edu	37	3	147113908	147113908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:147113908G>A	ENST00000383075.3	-	3	931	c.419C>T	c.(418-420)aCc>aTc	p.T140I	ZIC4_ENST00000425731.3_Missense_Mutation_p.T178I|ZIC4_ENST00000484399.1_Missense_Mutation_p.T140I|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.T140I|ZIC4_ENST00000525172.2_Missense_Mutation_p.T190I	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	140						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						GAGGCTCGGGGTCGCGGTGCC	0.652000													17	150					0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44139772	44139772	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:44139772T>G	ENST00000395797.1	-	3	736	c.548A>C	c.(547-549)cAc>cCc	p.H183P	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.H183P	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	183					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)		CTCACCACTGTGAACTCTCCT	0.483000													8	61					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65350570	65350570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:65350570G>A	ENST00000330909.8	-	20	3331	c.3332C>T	c.(3331-3333)aCc>aTc	p.T1111I	MAGI1_ENST00000402939.2_Missense_Mutation_p.T1083I|MAGI1_ENST00000497477.2_Missense_Mutation_p.T1016I|MAGI1_ENST00000483466.1_Missense_Mutation_p.T1112I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1112					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)		GTGTGTGGTGGTGATGGTGGC	0.488000													18	99					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46661854	46661854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46661854G>T	ENST00000544460.1	+	1	6243	c.5989G>T	c.(5989-5991)Gag>Tag	p.E1997*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1997*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1997					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)			TTTGTTCTCTGAGGAAGAAAG	0.318000													11	76					2.80697e-09	3.89028e-09	1	1	0
NDST4	64579	broad.mit.edu	37	4	115792067	115792067	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:115792067C>A	ENST00000264363.2	-	7	2254	c.1576G>T	c.(1576-1578)Gac>Tac	p.D526Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	526	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)		CCTAGGCGGTCATTTCCATAG	0.393000													5	34					0.014758	0.0154462	1	1	0
FREM2	341640	broad.mit.edu	37	13	39262895	39262895	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:39262895G>A	ENST00000280481.7	+	1	1630	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	472					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)		GGTCATCAGCGATGAGGATGA	0.592000													12	44					0	0	1	0	0
STARD3NL	83930	broad.mit.edu	37	7	38253990	38253990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:38253990G>C	ENST00000009041.7	+	3	515	c.258G>C	c.(256-258)aaG>aaC	p.K86N	STARD3NL_ENST00000434197.1_Missense_Mutation_p.K86N|STARD3NL_ENST00000544203.1_Missense_Mutation_p.K79N|STARD3NL_ENST00000396013.1_Missense_Mutation_p.K86N	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	86	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CATTAGAGAAGGAGGTGATGC	0.333000													6	53					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232688	113232688	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:113232688C>G	ENST00000369644.1	+	6	1665	c.636C>G	c.(634-636)acC>acG	p.T212T	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.T268T|MOV10_ENST00000357443.2_Silent_p.T268T|MOV10_ENST00000369645.1_Silent_p.T268T			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	268					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTGTGGTGACCAATCGGATAG	0.622000													15	61					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55147977	55147977	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:55147977G>C	ENST00000396331.1	+	15	2037	c.1680G>C	c.(1678-1680)gtG>gtC	p.V560V	LILRB1_ENST00000396317.1_Silent_p.V544V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000427581.2_Silent_p.V611V|LILRB1_ENST00000434867.2_Silent_p.V560V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396315.1_Silent_p.V562V|LILRB1_ENST00000396327.3_Silent_p.V561V|LILRB1_ENST00000396332.4_Silent_p.V561V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Silent_p.V562V|LILRB1_ENST00000418536.2_Silent_p.V544V|LILRB1_ENST00000396321.2_Silent_p.V560V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	560					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)		CCCAGGCAGTGACGTATGCCG	0.572000										HNSCC(37;0.09)			5	58					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375398	175375398	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175375398C>A	ENST00000367674.1	-	3	1161	c.453G>T	c.(451-453)ctG>ctT	p.L151L	TNR_ENST00000263525.2_Silent_p.L151L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	151					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)					ACTGGTCTCGCAGCACCGACA	0.617000													22	68					5.26018e-13	7.8273e-13	1	1	0
GBP3	2635	broad.mit.edu	37	1	89474719	89474719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474719C>T	ENST00000370481.4	-	10	1790	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	524						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCACATGTTCTTGATAACTC	0.423000													9	61					0	0	1	0	0
MIR517C	574492	broad.mit.edu	37	19	54244590	54244590	+	RNA	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:54244590T>C	ENST00000385103.1	+	0	24					NR_030214.1																						AGTGACCCTCTAGATGGAAGC	0.353000													7	85					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38805245	38805245	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:38805245G>T	ENST00000310301.4	-	16	1318	c.1264C>A	c.(1264-1266)Ctt>Att	p.L422I	VPS41_ENST00000395969.2_Missense_Mutation_p.L397I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	422					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.L422I(1)		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						TTTTTCCCAAGAATTTTCTGG	0.318000													4	39					0.014758	0.0154462	1	1	0
NEB	4703	broad.mit.edu	37	2	152472608	152472608	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:152472608C>A	ENST00000397345.3	-	76	11399	c.11197G>T	c.(11197-11199)Gct>Tct	p.A3733S	NEB_ENST00000604864.1_Missense_Mutation_p.A3733S|NEB_ENST00000172853.10_Missense_Mutation_p.A3490S|NEB_ENST00000427231.2_Missense_Mutation_p.A3733S|NEB_ENST00000409198.1_Missense_Mutation_p.A3490S|NEB_ENST00000603639.1_Missense_Mutation_p.A3733S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3733					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)		TCTTCCAAAGCAAGTTTATAG	0.378000													3	12					0.115264	0.117444	1	1	0
CLTC	1213	broad.mit.edu	37	17	57758312	57758312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:57758312G>T	ENST00000269122.3	+	19	3233	c.2959G>T	c.(2959-2961)Gaa>Taa	p.E987*	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Nonsense_Mutation_p.E987*	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	987	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)					GGACCCTGAAGAAGTGTCAGT	0.393000			T	"""ALK, TFE3"""	"""ALCL, renal """								12	173					5.50884e-06	6.76465e-06	1	1	0
SMG1	23049	broad.mit.edu	37	16	18849513	18849513	+	Silent	SNP	C	C	A	rs140975518	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:18849513C>A	ENST00000446231.2	-	45	7648	c.7236G>T	c.(7234-7236)acG>acT	p.T2412T	SMG1_ENST00000389467.3_Silent_p.T2412T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2412	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCCAGCAGCGTCAGCAGGG	0.542000													3	21					0.00909568	0.00960694	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182363382	182363382	+	Silent	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:182363382A>C	ENST00000397033.2	+	15	2003	c.1573A>C	c.(1573-1575)Aga>Cga	p.R525R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	525					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)	GGATGTGAACAGAAAGGCAGA	0.343000													9	49					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57858560	57858560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:57858560C>T	ENST00000228682.2	+	4	389	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Missense_Mutation_p.R59C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	100					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	p.R100C(1)		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)			GACGGTTATCCGCACCTCACC	0.567000													4	53					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745716	77745716	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745716C>A	ENST00000409088.3	-	3	1693	c.1279G>T	c.(1279-1281)Gcc>Tcc	p.A427S	LRRTM4_ENST00000409884.1_Missense_Mutation_p.A427S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.A427S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A428S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A428S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	427						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)		ACACTCCCGGCAATAATTTTG	0.493000													5	57					0.0215528	0.0223551	1	1	0
DNAH14	127602	broad.mit.edu	37	1	225152204	225152204	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:225152204A>G	ENST00000430092.1	+	5	606	c.391A>G	c.(391-393)Aga>Gga	p.R131G	DNAH14_ENST00000366848.1_Missense_Mutation_p.R131G|DNAH14_ENST00000366849.1_Missense_Mutation_p.R131G|DNAH14_ENST00000439375.2_Missense_Mutation_p.R131G|DNAH14_ENST00000400952.3_Missense_Mutation_p.R131G|DNAH14_ENST00000366850.3_Missense_Mutation_p.R131G	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	258					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TGATGTGATAAGAAATATTAT	0.333000													20	100					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160252802	160252802	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:160252802G>T	ENST00000264431.4	+	9	1532	c.1113G>T	c.(1111-1113)agG>agT	p.R371S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	371	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)		GACACCTAAGGCTGTTGAATA	0.388000													9	93					0.00448238	0.00481618	1	1	0
LVRN	206338	broad.mit.edu	37	5	115298804	115298804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:115298804C>T	ENST00000357872.4	+	1	614	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		164					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ACCCCTTTCCCCGGGCACTGG	0.667000													6	25					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53616047	53616047	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:53616047G>A	ENST00000219022.2	+	3	438	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	120					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCTTTCAGGTGAGGGAATATG	0.383000													9	31					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69811145	69811145	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:69811145A>C	ENST00000251566.4	-	2	773	c.743T>G	c.(742-744)gTg>gGg	p.V248G	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	248						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						AGCTTTTCCCACAGTCTCACA	0.328000													5	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179554032	179554032	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179554032G>T	ENST00000589042.1	-	124	32220	c.31996C>A	c.(31996-31998)Cca>Aca	p.P10666T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9422T|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P10349T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10349	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)			GGTGGTGGTGGAACTTCTTCC	0.378000													9	41					2.17888e-05	2.58902e-05	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40433612	40433612	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:40433612G>A	ENST00000221347.6	-	2	664	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	219	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)			GGACAGCCACGGGGCTACTAG	0.582000													17	86					0	0	1	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199862	26199862	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26199862G>T	ENST00000359985.1	+	1	115	c.76G>T	c.(76-78)Gat>Tat	p.D26Y		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	26					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCAGAAGAAGGATGGTAAGAA	0.532000													14	184					9.31168e-06	1.13653e-05	1	1	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864074	31864074	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:31864074G>T	ENST00000334063.4	-	1	201	c.202C>A	c.(202-204)Cgc>Agc	p.R68S		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	68						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						TATGATGGGCGGTAGCAGCCA	0.493000													13	177					2.27111e-07	2.94552e-07	1	1	0
GALNT2	2590	broad.mit.edu	37	1	230401079	230401079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:230401079G>A	ENST00000366672.4	+	14	1478	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	GALNT2_ENST00000543760.1_Missense_Mutation_p.G431E|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	469	Ricin B-type lectin.				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)				GGTGTGGTTGGAGTTTATGAA	0.532000													45	240					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44229546	44229546	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:44229546C>T	ENST00000275015.5	-	3	924	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	309					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)			GCCCGAACTGCGCCCGGTTGG	0.632000													3	21					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340877	55340877	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:55340877C>A	ENST00000391728.4	+	7	1095	c.1062C>A	c.(1060-1062)ctC>ctA	p.L354L	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.L337L|KIR3DL1_ENST00000358178.4_Silent_p.L259L|KIR3DL1_ENST00000326542.7_Silent_p.L337L|KIR3DL1_ENST00000538269.1_Silent_p.L354L	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)		tcttcatcctcctcctcttct	0.512000													13	127					1.52009e-12	2.2454e-12	1	1	0
NCAN	1463	broad.mit.edu	37	19	19338428	19338428	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:19338428G>T	ENST00000252575.5	+	8	2042	c.1999G>T	c.(1999-2001)Gct>Tct	p.A667S	NCAN_ENST00000538881.1_Missense_Mutation_p.A118S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	667					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)			CACCGCCACGGCTCCACCCTC	0.617000													8	123					2.17888e-05	2.58902e-05	1	1	0
ENTHD2	146705	broad.mit.edu	37	17	79205454	79205454	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:79205454A>T	ENST00000374769.2	-	10	964	c.487T>A	c.(487-489)Ttg>Atg	p.L163M	ENTHD2_ENST00000300714.3_Missense_Mutation_p.L247M|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA					ENTH domain containing 2																		ACCAAGCTCAACTCCTGCTGA	0.657000													4	34					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132159731	132159731	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:132159731C>A	ENST00000511190.1	-	6	2987	c.2518G>T	c.(2518-2520)Ggc>Tgc	p.G840C	USP26_ENST00000370832.1_Missense_Mutation_p.G840C|USP26_ENST00000406273.1_Missense_Mutation_p.G840C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	840					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)					ATATAATGGCCTGACTTTAGA	0.433000													17	39					8.60227e-14	1.29676e-13	1	1	0
LY9	4063	broad.mit.edu	37	1	160784328	160784328	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160784328G>A	ENST00000263285.5	+	4	879	c.849G>A	c.(847-849)ttG>ttA	p.L283L	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.L243L|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000341032.4_Silent_p.L283L	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	283	Ig-like V-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)			TTGTCTGGTTGTTTAACACAT	0.542000													13	96					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7365751	7365751	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:7365751C>A	ENST00000502583.1	-	9	2707	c.2143G>T	c.(2143-2145)Gga>Tga	p.G715*	CAGE1_ENST00000338150.4_Nonsense_Mutation_p.G715*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.G693*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.G552*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.G688*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	688										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTTTGGCTCCCAGAAGGGTA	0.348000													3	23					0.115264	0.117444	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20215695	20215695	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20215695G>T	ENST00000331723.1	+	1	109	c.109G>T	c.(109-111)Gct>Tct	p.A37S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTTACATTGCTATTGTCCT	0.383000													11	247					0.000978159	0.00108714	1	1	0
GLI3	2737	broad.mit.edu	37	7	42004735	42004735	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:42004735C>A	ENST00000395925.3	-	15	4020	c.3936G>T	c.(3934-3936)atG>atT	p.M1312I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1312					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						CCTGGTTCTGCATGCCATTCA	0.647000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	54					0.00448238	0.00481618	1	1	0
CAPN13	92291	broad.mit.edu	37	2	30987150	30987150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:30987150G>C	ENST00000295055.8	-	6	723	c.547C>G	c.(547-549)Ctg>Gtg	p.L183V	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.L183V	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	183	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)					CCATAGTGCAGATCGGAATAG	0.582000													5	36					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9781399	9781399	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:9781399G>A	ENST00000383829.2	+	3	1720	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	BRPF1_ENST00000433861.2_Missense_Mutation_p.R439H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R439H|BRPF1_ENST00000457855.1_Missense_Mutation_p.R439H|BRPF1_ENST00000302054.3_Missense_Mutation_p.R439H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	439					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)					TTCAGTGTCCGCAAGACAGCC	0.602000													6	30					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47712256	47712256	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47712256C>A	ENST00000525123.1	-	10	1288	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.G335W|AGBL2_ENST00000528244.1_Missense_Mutation_p.G297W|AGBL2_ENST00000298861.4_Missense_Mutation_p.G335W	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	335					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						GGCTTCATCCCTACAGTATAA	0.428000													22	134					7.33532e-06	8.99384e-06	1	1	0
EP400	57634	broad.mit.edu	37	12	132547186	132547186	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:132547186A>G	ENST00000333577.4	+	48	8491	c.8382A>G	c.(8380-8382)ccA>ccG	p.P2794P	EP400_ENST00000330386.6_Silent_p.P2677P|EP400_ENST00000332482.4_Silent_p.P2721P|EP400_ENST00000389562.2_Silent_p.P2757P|EP400_ENST00000389561.2_Silent_p.P2758P			Q96L91	EP400_HUMAN	E1A binding protein p400	2794					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)		TGCAAGTTCCACAGATCCAGG	0.602000													8	57					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59620758	59620758	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:59620758G>C	ENST00000257264.3	-	8	1262	c.1158C>G	c.(1156-1158)atC>atG	p.I386M		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	386					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATACAGGTGATATAGGGCC	0.488000													17	150					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47786823	47786823	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47786823T>C	ENST00000263773.5	-	2	324	c.313_splice	c.e2+1	p.T104_splice	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	104										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						AAAGCATACCTGTTGCTTTAA	0.393000													27	199					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064751	73064751	+	RNA	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:73064751G>C	ENST00000429829.1	-	0	7837					NR_001564.2																						CCTGCCAGAAGGGAAAGGAAG	0.493000													9	47					0	0	1	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51821254	51821254	+	RNA	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:51821254T>A	ENST00000456967.1	-	0	1380					NR_038275.1																						ATCCTCATCATCAAAGAGCCC	0.552000													12	122					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72698952	72698952	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:72698952A>T	ENST00000341689.3	+	3	401	c.347A>T	c.(346-348)cAa>cTa	p.Q116L	TMEM202_ENST00000567679.1_Missense_Mutation_p.N31Y	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	116						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GATTATCTCCAATATTCCAGG	0.458000													10	62					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168698251	168698251	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:168698251C>A	ENST00000367817.3	-	1	251	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	54	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCACTATCACCTGCCCCTGGG	0.552000													12	72					6.40141e-05	7.46369e-05	1	1	0
NLN	57486	broad.mit.edu	37	5	65054573	65054573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:65054573C>T	ENST00000380985.5	+	2	399	c.221C>T	c.(220-222)gCt>gTt	p.A74V	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	74					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GTGTACGATGCTGTTGGAATG	0.443000													7	115					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177909766	177909766	+	Silent	SNP	C	C	T	rs34633883		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177909766C>T	ENST00000308284.6	-	17	2195	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	702					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						TCCGAAGTTGCGCTAGCCAAT	0.567000													4	25					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929079	44929079	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:44929079G>T	ENST00000377967.4	+	17	2220	c.2179G>T	c.(2179-2181)Gtg>Ttg	p.V727L	KDM6A_ENST00000543216.1_Missense_Mutation_p.V648L|KDM6A_ENST00000536777.1_Missense_Mutation_p.V682L|KDM6A_ENST00000382899.4_Missense_Mutation_p.V734L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	727					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)		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						CATATTGACGGTGCCTGAAAC	0.507000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								3	22					0.004672	0.00498676	1	1	0
XAB2	56949	broad.mit.edu	37	19	7688636	7688636	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:7688636T>A	ENST00000358368.4	-	8	1137	c.1100A>T	c.(1099-1101)cAc>cTc	p.H367L	XAB2_ENST00000534844.1_Missense_Mutation_p.H364L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	367					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						GCGGCCCTGGTGCAGGGCGAC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)					11	51					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112642541	112642541	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:112642541C>T	ENST00000471858.1	-	7	1193	c.961G>A	c.(961-963)Gac>Aac	p.D321N	CD200R1_ENST00000308611.3_Missense_Mutation_p.D344N|CD200R1_ENST00000295863.4_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	321					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTATGGAGGTCTGTGTCAACT	0.378000													7	63					0	0	1	0	0
HN1L	90861	broad.mit.edu	37	16	1748969	1748969	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:1748969G>T	ENST00000248098.3	+	5	600	c.543G>T	c.(541-543)ccG>ccT	p.P181P	HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000382711.5_Silent_p.P165P|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000562684.1_Silent_p.P209P|HN1L_ENST00000382710.4_Silent_p.P169P	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	181						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAACCCACCGGGAGGCAAAT	0.602000													17	80					3.32936e-07	4.28363e-07	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121222140	121222140	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:121222140G>C	ENST00000297848.3	+	12	1737	c.1467_splice	c.e12+1	p.E489_splice	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Splice_Site_p.E489_splice|COL14A1_ENST00000247781.3_Splice_Site_p.E394_splice|COL14A1_ENST00000537875.1_Splice_Site_p.E489_splice	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	489	Fibronectin type-III 3.				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)			ATGAAAAAGAGGTAACCACTT	0.373000													9	66					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23707243	23707243	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:23707243G>T	ENST00000256797.4	-	14	1894	c.1726C>A	c.(1726-1728)Cgc>Agc	p.R576S	ERN2_ENST00000457008.2_Missense_Mutation_p.R476S	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	528	Protein kinase.				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)		CCTGCCCCGCGGCCCAGCACG	0.637000													4	39					0.150653	0.152925	1	1	0
TSHZ2	128553	broad.mit.edu	37	20	51872767	51872767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:51872767C>T	ENST00000371497.5	+	2	3657	c.2770C>T	c.(2770-2772)Ccc>Tcc	p.P924S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.P921S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P921S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	924					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGGCCACCCCATCTTTTA	0.473000													5	60					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69964264	69964264	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:69964264C>A	ENST00000305231.7	+	2	774	c.728C>A	c.(727-729)cCc>cAc	p.P243H	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.P243H	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	243					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGGAAGACCCACTACATTA	0.353000													16	91					2.31682e-05	2.74084e-05	1	1	0
SLC24A3	57419	broad.mit.edu	37	20	19673993	19673993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:19673993G>A	ENST00000328041.6	+	13	1612	c.1415G>A	c.(1414-1416)tGg>tAg	p.W472*	RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	472						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						AAGCCGCGCTGGGAGAAATGG	0.527000													5	59					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538379	31538379	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:31538379G>C	ENST00000261592.5	-	7	1357	c.1060C>G	c.(1060-1062)Cct>Gct	p.P354A	NOL4_ENST00000535384.1_Missense_Mutation_p.P69A|NOL4_ENST00000269185.4_Missense_Mutation_p.P240A|NOL4_ENST00000589544.1_Missense_Mutation_p.P354A|NOL4_ENST00000538587.1_Missense_Mutation_p.P280A|NOL4_ENST00000535475.1_Missense_Mutation_p.P199A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	354						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						CTATGTGCAGGAGACTGAAAA	0.383000													13	112					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975852	76975852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:76975852G>T	ENST00000409911.1	-	3	1968	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581Q|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P581Q	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	581						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)		GTAGATGGCCGGTGCTGCCGA	0.592000													11	143					6.40141e-05	7.46369e-05	1	1	0
THSD1	55901	broad.mit.edu	37	13	52951826	52951826	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:52951826C>G	ENST00000349258.4	-	4	2664	c.2120G>C	c.(2119-2121)cGt>cCt	p.R707P	THSD1_ENST00000544466.1_Missense_Mutation_p.R381P|THSD1_ENST00000258613.4_Missense_Mutation_p.R760P	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	760						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CGGTCCCCGACGAGCTCTGTG	0.547000													45	130					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244165	8244165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:8244165G>A	ENST00000332175.8	+	15	3447	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	PTPRM_ENST00000444013.1_Missense_Mutation_p.E591K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E742K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E804K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E804K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	804					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)				AAACTGCGACGAGGCTTTCTC	0.483000													10	110					0	0	1	0	0
MB21D1	115004	broad.mit.edu	37	6	74150012	74150012	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:74150012G>A	ENST00000370315.3	-	3	1128	c.1034C>T	c.(1033-1035)tCa>tTa	p.S345L	MB21D1_ENST00000370318.1_Missense_Mutation_p.S345L	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	345										central_nervous_system(1)|large_intestine(4)|lung(1)	6						AACTTTTGCTGAAAGCCAGTT	0.393000													10	96					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175360426	175360426	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175360426G>A	ENST00000367674.1	-	7	2213	c.1505C>T	c.(1504-1506)aCa>aTa	p.T502I	TNR_ENST00000263525.2_Missense_Mutation_p.T502I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	502	Fibronectin type-III 2.				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)					GCACTCACCTGTGGAGACGCT	0.542000													15	81					0	0	1	0	0
C7orf50	84310	broad.mit.edu	37	7	1049731	1049731	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:1049731G>T	ENST00000397098.3	-	3	1104	c.178C>A	c.(178-180)Cca>Aca	p.P60T	C7orf50_ENST00000397100.2_Missense_Mutation_p.P60T|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.P60T			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	60							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		TGCTCCTCTGGGGACAGCTCT	0.617000													4	40					0.00909568	0.00960694	1	1	0
GUSB	2990	broad.mit.edu	37	7	65445375	65445375	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:65445375G>T	ENST00000304895.4	-	2	362	c.232C>A	c.(232-234)Cca>Aca	p.P78T	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.P78T|GUSB_ENST00000421103.1_Missense_Mutation_p.P78T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	78					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GAGGGAACTGGCATGTCCACG	0.632000													3	21					6.4e-05	7.46369e-05	1	1	0
SALL4	57167	broad.mit.edu	37	20	50407722	50407722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:50407722G>T	ENST00000217086.4	-	2	1411	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	434					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						GCCTTCACCTGGGGATGTCGG	0.582000													11	59					7.03913e-09	9.65639e-09	1	1	0
ALG10	84920	broad.mit.edu	37	12	34175678	34175678	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:34175678C>T	ENST00000266483.2	+	1	463	c.144C>T	c.(142-144)taC>taT	p.Y48Y	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Silent_p.Y48Y	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	48					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)				CGCAGCGCTACTGTGAGGGCC	0.622000													23	252					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234355440	234355440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:234355440G>T	ENST00000264057.2	+	12	1429	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.E429*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	473					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)	CGAGGATTCCGAGGTATTGCT	0.592000													7	56					0.00307968	0.00332671	1	1	0
NFAT5	10725	broad.mit.edu	37	16	69689631	69689631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:69689631C>A	ENST00000349945.1	+	7	2395	c.843C>A	c.(841-843)tgC>tgA	p.C281*	NFAT5_ENST00000432919.1_Nonsense_Mutation_p.C375*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.C375*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.C281*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.C281*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.C357*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	357	RHD.				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						CAACTCCTTGCAAAGAAGTGG	0.428000													13	79					7.93312e-07	1.00312e-06	1	1	0
TMEM86A	144110	broad.mit.edu	37	11	18723412	18723412	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:18723412C>T	ENST00000280734.2	+	3	675	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	193						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						ACCTGACCATCGCCCTCAACA	0.577000													6	91					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988122	113988122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113988122G>T	ENST00000297405.5	-	7	1530	c.1286C>A	c.(1285-1287)cCa>cAa	p.P429Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.P389Q|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.P429Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	429						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						AGCATGTCTTGGTCTTCTCCT	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	120					1.5842e-08	2.14052e-08	1	1	0
IKBKB	3551	broad.mit.edu	37	8	42179608	42179608	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:42179608G>A	ENST00000520810.1	+	18	1961	c.1775G>A	c.(1774-1776)cGg>cAg	p.R592Q	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.R590Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R533Q|IKBKB_ENST00000379708.3_Missense_Mutation_p.R369Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	592					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)	GAAATGGTACGGCTGCTGCTT	0.537000													13	119					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727027	141727027	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141727027G>T	ENST00000475668.2	+	9	1149	c.1095_splice	c.e9+1	p.E365_splice	MGAM_ENST00000549489.2_Splice_Site_p.E365_splice			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	365	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)	AATATCTAGAGGTAAACTTAG	0.413000													18	87					1.02788e-11	1.49915e-11	1	1	0
IL4R	3566	broad.mit.edu	37	16	27367165	27367165	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:27367165G>C	ENST00000395762.2	+	8	966	c.707G>C	c.(706-708)gGc>gCc	p.G236A	IL4R_ENST00000543915.2_Missense_Mutation_p.G236A|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.G236A|IL4R_ENST00000380922.3_Missense_Mutation_p.G221A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	236					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCCTGCTGGGCGTCAGCGTT	0.617000													14	73					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379125	138379125	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:138379125C>A	ENST00000356818.2	+	4	3318	c.2769C>A	c.(2767-2769)ggC>ggA	p.G923G	PPP1R26_ENST00000401470.3_Silent_p.G923G|PPP1R26_ENST00000605660.1_Silent_p.G923G|PPP1R26_ENST00000605286.1_Silent_p.G923G|PPP1R26_ENST00000604351.1_Silent_p.G923G|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	923						nucleolus	protein binding										TCAGCCAGGGCGGGAAGGGGC	0.697000													30	67					4.74835e-14	7.18478e-14	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119344239	119344239	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:119344239G>T	ENST00000338891.7	-	3	1464	c.1021C>A	c.(1021-1023)Caa>Aaa	p.Q341K	FAM184A_ENST00000352896.5_Missense_Mutation_p.Q221K|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q221K|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q341K|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q221K|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	341										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AGCTGTTTTTGAAGAACCTAA	0.363000													12	46					3.03607e-14	4.60253e-14	1	1	0
SFTPD	6441	broad.mit.edu	37	10	81706396	81706396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:81706396G>A	ENST00000372292.3	-	2	60	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	7					cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GACCAGTGCAGAGAGGAGGAA	0.527000													4	22					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98060712	98060712	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:98060712T>A	ENST00000370192.3	-	9	961	c.861A>T	c.(859-861)gaA>gaT	p.E287D		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	287					'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)	CTTTATTGGGTTCTGGCAAAC	0.373000													7	58					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249510	153249510	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:153249510C>G	ENST00000281708.4	-	9	2497	c.1268G>C	c.(1267-1269)gGa>gCa	p.G423A	FBXW7_ENST00000603548.1_Missense_Mutation_p.G423A|FBXW7_ENST00000263981.5_Missense_Mutation_p.G343A|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305A|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423A|FBXW7_ENST00000393956.3_Missense_Mutation_p.G247A	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	423					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.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|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)				TGACCATACTCCACCTGTATG	0.373000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								12	136					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125282154	125282154	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:125282154C>T	ENST00000340750.1	+	1	735	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GCTCTCACCTCTCTGTGGTGT	0.473000													14	69					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48273984	48273984	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:48273984A>T	ENST00000225964.5	-	12	970	c.852T>A	c.(850-852)ggT>ggA	p.G284G		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	284	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)	TTACCTTAGGACCAGCAGGAC	0.507000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						34	289					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51944776	51944776	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:51944776C>A	ENST00000371117.3	-	5	587	c.312G>T	c.(310-312)ctG>ctT	p.L104L	PKHD1_ENST00000340994.4_Silent_p.L104L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	104	IPT/TIG 1; atypical.				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)					CCAGGAAGTACAGACCCTCAT	0.488000													27	121					4.22769e-11	6.12182e-11	1	1	0
HIST1H4B	8366	broad.mit.edu	37	6	26027317	26027317	+	Missense_Mutation	SNP	G	G	A	rs149158970		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26027317G>A	ENST00000377364.3	-	1	163	c.164C>T	c.(163-165)aCt>aTt	p.T55I		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	55					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACGCCACGAGTCTCCTCATA	0.562000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	62					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3991379	3991379	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:3991379G>T	ENST00000404826.2	+	7	1116	c.977G>T	c.(976-978)aGt>aTt	p.S326I	SDK1_ENST00000389531.3_Missense_Mutation_p.S326I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	326	Ig-like C2-type 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)		GAGGACCTGAGTGTGACCTGG	0.587000													10	48					7.48243e-07	9.52095e-07	1	1	0
CHD7	55636	broad.mit.edu	37	8	61778055	61778055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:61778055G>T	ENST00000423902.2	+	38	9036	c.8557G>T	c.(8557-8559)Gag>Tag	p.E2853*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.E804*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2853					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)			GAATGAAGACGAGAACAAAGA	0.493000													5	36					0.014758	0.0154462	1	1	0
TBX21	30009	broad.mit.edu	37	17	45821647	45821647	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45821647C>T	ENST00000177694.1	+	4	1066	c.855C>T	c.(853-855)aaC>aaT	p.N285N		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	285					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGCCTGCAACGCTTCCAACA	0.562000													9	108					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56700249	56700249	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:56700249T>A	ENST00000389934.3	-	4	493	c.376A>T	c.(376-378)Aag>Tag	p.K126*	TEX14_ENST00000240361.8_Nonsense_Mutation_p.K126*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.K126*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	126						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)					GCCCAAGTCTTCGGGTTTTGA	0.552000													6	102					0	0	1	0	0
GTF2F2	2963	broad.mit.edu	37	13	45841372	45841372	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:45841372A>T	ENST00000340473.6	+	7	632	c.491A>T	c.(490-492)gAa>gTa	p.E164V	GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	164					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	p.E164A(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|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;0.000647)		ATATAGATCGAATATGAAAGG	0.333000													14	40					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42418311	42418311	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:42418311T>A	ENST00000328823.9	+	5	496	c.465T>A	c.(463-465)taT>taA	p.Y155*	WBP2NL_ENST00000543212.1_Nonsense_Mutation_p.Y81*	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	155					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TGGGAATTTATGTAATTACTG	0.418000													20	119					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127222068	127222068	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:127222068T>C	ENST00000321407.2	-	2	2752	c.2328A>G	c.(2326-2328)tgA>tgG	p.*776W		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	0						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						GAAAATGGCATCATCTCTTGC	0.463000													24	54					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16217179	16217179	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:16217179C>A	ENST00000339732.5	+	1	1024	c.521C>A	c.(520-522)cCc>cAc	p.P174H	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.P174H	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AGGGCTCTGCCCGAGGTGCGG	0.607000													7	23					0.00198382	0.00216905	1	1	0
NFE2	4778	broad.mit.edu	37	12	54688989	54688989	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:54688989T>A	ENST00000540264.2	-	1	553	c.44A>T	c.(43-45)cAg>cTg	p.Q15L	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.Q15L|NFE2_ENST00000553070.1_Missense_Mutation_p.Q15L|NFE2_ENST00000435572.2_Missense_Mutation_p.Q15L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	15	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGTGGACAGCTGTATCACCCT	0.587000													6	52					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364294	5364294	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5364294A>C	ENST00000300773.2	-	1	515	c.461T>G	c.(460-462)gTt>gGt	p.V154G	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	154			V -> I (in dbSNP:rs12273630).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAACAACGGATACAAA	0.438000													6	77					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260292	30260292	+	Splice_Site	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:30260292T>C	ENST00000359358.4	-	7	1868		c.e7-2			NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTACACCCCCTGTGAAATAAA	0.393000													16	147					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149174789	149174789	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:149174789T>A	ENST00000340622.3	-	5	858	c.578A>T	c.(577-579)gAg>gTg	p.E193V	ZNF746_ENST00000458143.2_Missense_Mutation_p.E193V			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	193					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)			GAGCTGGAGCTCACCCTCCTG	0.662000													10	31					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671734	49671734	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:49671734A>T	ENST00000561648.1	-	4	1382	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	ZNF423_ENST00000563137.2_Nonsense_Mutation_p.C383*|ZNF423_ENST00000535559.1_Nonsense_Mutation_p.C326*|ZNF423_ENST00000262383.2_Nonsense_Mutation_p.C443*|ZNF423_ENST00000567169.1_Nonsense_Mutation_p.C326*|ZNF423_ENST00000562520.1_Nonsense_Mutation_p.C383*|ZNF423_ENST00000562871.1_Nonsense_Mutation_p.C383*	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	443					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)				GGCAGATCTGACATGTGTGGC	0.572000													11	66					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127399180	127399180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:127399180G>T	ENST00000468137.1	+	11	1489	c.873G>T	c.(871-873)gaG>gaT	p.E291D	ABTB1_ENST00000453791.2_Missense_Mutation_p.E291D|ABTB1_ENST00000393363.3_Missense_Mutation_p.E291D|ABTB1_ENST00000232744.8_Missense_Mutation_p.E433D			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	433	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCGGCAGGAGACGGACTCTA	0.677000													4	17					0.000602214	0.000673014	1	1	0
KDM1A	23028	broad.mit.edu	37	1	23383993	23383993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:23383993G>T	ENST00000400181.4	+	8	1111	c.1007G>T	c.(1006-1008)cGa>cTa	p.R336L	KDM1A_ENST00000356634.3_Missense_Mutation_p.R316L|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.R336L	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	316	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						GTGGGTGGACGAGTTGCCACA	0.428000													6	41					0.0293803	0.0303184	1	1	0
KY	339855	broad.mit.edu	37	3	134338041	134338041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:134338041G>A	ENST00000508956.1	-	7	653	c.596C>T	c.(595-597)aCc>aTc	p.T199I	KY_ENST00000508041.1_5'UTR|KY_ENST00000503669.1_Missense_Mutation_p.T220I|KY_ENST00000423778.2_Missense_Mutation_p.T220I			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	220						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGTCTTCTGGGTCCGCAGGAT	0.562000													10	94					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833586	43833586	+	Silent	SNP	C	C	T	rs144816086		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:43833586C>T	ENST00000319294.6	+	5	652	c.621C>T	c.(619-621)agC>agT	p.S207S	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	207						cytosol|nucleus		p.S207R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGAGGCTGAGCAATTTAACTA	0.532000													8	37					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152826383	152826383	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:152826383G>T	ENST00000367255.5	-	9	1332	c.731C>A	c.(730-732)aCt>aAt	p.T244N	SYNE1_ENST00000367248.3_Missense_Mutation_p.T251N|SYNE1_ENST00000423061.1_Missense_Mutation_p.T251N|SYNE1_ENST00000413186.2_Missense_Mutation_p.T244N|SYNE1_ENST00000341594.5_Missense_Mutation_p.T244N|SYNE1_ENST00000367253.4_Missense_Mutation_p.T244N|SYNE1_ENST00000466159.2_Missense_Mutation_p.T244N|SYNE1_ENST00000448038.1_Missense_Mutation_p.T251N|SYNE1_ENST00000265368.4_Missense_Mutation_p.T244N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	244	Actin-binding.|CH 2.				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)		TTCGGCGATAGTGAAAGCATC	0.443000										HNSCC(10;0.0054)			12	37					2.27111e-07	2.94552e-07	1	1	0
NCCRP1	342897	broad.mit.edu	37	19	39688732	39688732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:39688732C>T	ENST00000339852.4	+	2	399	c.377C>T	c.(376-378)aCc>aTc	p.T126I		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	126	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACTGGTCCCACCCAGCGACCC	0.622000													21	178					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508324	49508324	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:49508324G>A	ENST00000396029.3	-	5	3494	c.2927C>T	c.(2926-2928)cCt>cTt	p.P976L	ADNP_ENST00000396032.3_Missense_Mutation_p.P976L|ADNP_ENST00000349014.3_Missense_Mutation_p.P976L|ADNP_ENST00000371602.4_Missense_Mutation_p.P976L	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	976						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						TTGGGATCCAGGCCCACTCTC	0.488000													11	139					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51052999	51052999	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:51052999C>A	ENST00000442544.2	+	28	4740	c.4124C>A	c.(4123-4125)cCt>cAt	p.P1375H	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1008H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1375			P -> H (in a colorectal carcinoma).		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)		CCCACTCTTCCTAAGACCCAT	0.458000													11	73					1.05317e-09	1.4851e-09	1	1	0
CA8	767	broad.mit.edu	37	8	61178546	61178546	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:61178546A>T	ENST00000317995.4	-	3	619	c.355T>A	c.(355-357)Tgg>Agg	p.W119R		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	119					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCTCTTCCCCAGTGAAATCTC	0.393000													7	43					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57532247	57532247	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:57532247A>T	ENST00000243077.3	+	2	539	c.73A>T	c.(73-75)Aag>Tag	p.K25*	LRP1_ENST00000553277.1_Nonsense_Mutation_p.K25*|LRP1_ENST00000554174.1_Nonsense_Mutation_p.K25*|LRP1_ENST00000338962.4_Nonsense_Mutation_p.K25*	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	25	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)	CCTAGCCCCTAAGACTTGCAG	0.527000													13	140					0	0	1	0	0
C10orf111	221060	broad.mit.edu	37	10	15138705	15138705	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:15138705T>G	ENST00000378207.3	-	2	392	c.119A>C	c.(118-120)aAg>aCg	p.K40T		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	40						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						TCTTACTGCCTTTCTCTTTTC	0.502000													14	71					0	0	1	0	0
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389533	52389533	+	RNA	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:52389533G>T	ENST00000443374.1	+	0	226																											TCTTCAAGAAGGGGACCTTGC	0.473000													8	55					0.00307968	0.00332671	1	1	0
OR2T27	403239	broad.mit.edu	37	1	248814116	248814116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248814116G>A	ENST00000344889.3	-	1	69	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P24S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGCCAGGGGAAACGGGCG	0.493000													14	93					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768579	121768579	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:121768579G>T	ENST00000282561.3	+	2	743	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	196					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)	CCCACATCAGGTGGACTGTTT	0.483000													14	109					3.35478e-16	5.16316e-16	1	1	0
CD244	51744	broad.mit.edu	37	1	160811021	160811021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160811021C>T	ENST00000368034.4	-	3	811	c.634G>A	c.(634-636)Gac>Aac	p.D212N	CD244_ENST00000368032.2_Missense_Mutation_p.D212N|CD244_ENST00000368033.3_Missense_Mutation_p.D217N|CD244_ENST00000322302.7_Intron	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	217	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTGACAGTCCTGAGTGAGA	0.512000													9	62					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769440	31769440	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:31769440T>A	ENST00000240587.4	-	2	1586	c.1259A>T	c.(1258-1260)aAa>aTa	p.K420I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	420					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCCCCTTTTTCATAGCAGA	0.572000													55	133					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100606798	100606798	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:100606798C>G	ENST00000319509.7	+	4	1888	c.1888C>G	c.(1888-1890)Ctg>Gtg	p.L630V						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GATCCTGTCCCTGAGGTAGGA	0.507000													4	16					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132537	11132537	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:11132537T>G	ENST00000358026.2	+	19	3037	c.2753T>G	c.(2752-2754)cTt>cGt	p.L918R	SMARCA4_ENST00000344626.4_Missense_Mutation_p.L918R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L918R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L918R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L918R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L918R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L918R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	918	Helicase ATP-binding.				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)				CAGAACAAGCTTCCCGAGCTC	0.612000			"""F, N, Mis"""		NSCLC								8	36					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868991	140868991	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140868991C>T	ENST00000252087.1	+	1	184	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		62	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTTGAGCCGGCGGCTGCA	0.547000													5	55					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497332	28497332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:28497332C>G	ENST00000412168.2	+	2	281	c.192C>G	c.(190-192)atC>atG	p.I64M	GPX5_ENST00000469384.1_Missense_Mutation_p.I64M|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	64					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GCAAGCACATCCTCTTCGTCA	0.438000													13	53					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046646	175046646	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175046646C>A	ENST00000239462.4	+	2	205	c.92C>A	c.(91-93)cCc>cAc	p.P31H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	31					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)		CTGGAGCCTCCCGGCTGCAGC	0.597000													17	100					4.14922e-12	6.07349e-12	1	1	0
BAI3	577	broad.mit.edu	37	6	69949024	69949024	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:69949024G>C	ENST00000370598.1	+	20	3541	c.2720G>C	c.(2719-2721)cGc>cCc	p.R907P	BAI3_ENST00000238918.8_Missense_Mutation_p.R113P	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	907					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R907P(1)		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)				AGGTACATACGCTCTGAGAGA	0.368000													13	103					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12704637	12704637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:12704637C>T	ENST00000388918.5	+	6	1322	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	TYRP1_ENST00000381137.2_Missense_Mutation_p.P107L|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.P108L	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	398					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)		CCAAATGATCCTATTTTTGTC	0.448000									Oculocutaneous Albinism				30	82					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160899681	160899681	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:160899681C>A	ENST00000335388.5	-	0	1203					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGGGTTGTTTCCCAGAATCTG	0.483000													7	35					2.7689e-08	3.72878e-08	1	1	0
TYK2	7297	broad.mit.edu	37	19	10488921	10488921	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:10488921C>A	ENST00000525621.1	-	3	643	c.162G>T	c.(160-162)gaG>gaT	p.E54D	TYK2_ENST00000264818.6_Missense_Mutation_p.E54D|TYK2_ENST00000529370.1_Missense_Mutation_p.E54D|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	54	FERM.				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)			TGCAGACTTCCTCAGCTGTCA	0.617000													10	46					1.58986e-06	1.99164e-06	1	1	0
LINC00922	283867	broad.mit.edu	37	16	65397190	65397190	+	RNA	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:65397190A>C	ENST00000569736.1	-	0	490				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						TGGACTCCCAAGGTCCTATAA	0.418000													8	28					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777748	237777748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:237777748G>T	ENST00000366574.2	+	37	5637	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1758*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1772*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1774	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)			CATTAGTAATGAATGTTACCA	0.498000													26	104					1.64293e-13	2.46288e-13	1	1	0
BHMT2	23743	broad.mit.edu	37	5	78373342	78373342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:78373342G>T	ENST00000255192.3	+	2	139	c.73G>T	c.(73-75)Gga>Tga	p.G25*	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Nonsense_Mutation_p.G25*	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	25	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)	GGTTGTGATTGGAGATGGCAG	0.488000													8	114					0.00307968	0.00332671	1	1	0
RTN4RL1	146760	broad.mit.edu	37	17	1840777	1840777	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:1840777C>T	ENST00000331238.5	-	2	357	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	113					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGCGTCCGCAGCTGCCGGT	0.642000													10	36					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25475879	25475879	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:25475879C>A	ENST00000453082.2	+	0	1474					NR_003343.1																						GGTGCTCAGCCCCAGTGCACT	0.607000													10	57					2.17888e-05	2.58902e-05	1	1	0
EPHB1	2047	broad.mit.edu	37	3	134885831	134885831	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:134885831A>G	ENST00000398015.3	+	9	2112	c.1742A>G	c.(1741-1743)cAt>cGt	p.H581R	EPHB1_ENST00000493838.1_Missense_Mutation_p.H142R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	581						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						AAGCTCCAGCATTACAGCACA	0.542000													12	219					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34180272	34180272	+	Silent	SNP	G	G	C	rs145807635		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:34180272G>C	ENST00000373381.4	-	21	3497	c.3321C>G	c.(3319-3321)ccC>ccG	p.P1107P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1067	CUB 7.					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)				GACGGTACCCGGGGAAGCAGG	0.662000													75	175					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537461	5537461	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5537461C>A	ENST00000380184.1	-	1	474	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	71	Ubiquitin-like.							p.V71L(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)		AAGACCAGCACTAGTTGGTCC	0.498000													5	69					0.000602214	0.000673014	1	1	0
MTHFD1	4522	broad.mit.edu	37	14	64894130	64894130	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:64894130C>T	ENST00000555709.1	+	12	1590	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	MTHFD1_ENST00000545908.1_Silent_p.L457L|MTHFD1_ENST00000216605.7_Silent_p.L457L|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Silent_p.L381L	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	401	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)	GTGCCCATCTCTACCAGAATG	0.512000													6	107					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121209254	121209254	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:121209254C>A	ENST00000264233.5	-	16	2652	c.2522_splice	c.e16-1	p.A842_splice		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	842					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)		GCCTTCCGGGCACTACACAAG	0.428000								DNA polymerases (catalytic subunits)					7	117					0.00307968	0.00332671	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884717	228884717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:228884717G>A	ENST00000392056.3	-	7	899	c.853C>T	c.(853-855)Cga>Tga	p.R285*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.R285*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	285						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)		TCTGGAGATCGTTCTGTTTTA	0.443000													17	215					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657168	81657168	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:81657168C>A	ENST00000550584.2	-	30	3852	c.3555_splice	c.e30-1	p.S1186_splice	PPFIA2_ENST00000541570.2_Splice_Site_p.S722_splice|PPFIA2_ENST00000552948.1_Splice_Site_p.S1165_splice|PPFIA2_ENST00000443686.3_Splice_Site_p.S1081_splice|PPFIA2_ENST00000548586.1_Splice_Site_p.S1180_splice|PPFIA2_ENST00000549325.1_Splice_Site_p.S1171_splice|PPFIA2_ENST00000407050.4_Splice_Site_p.S1085_splice|PPFIA2_ENST00000549396.1_Splice_Site_p.S1186_splice|PPFIA2_ENST00000541017.1_Splice_Site_p.S372_splice|PPFIA2_ENST00000550359.2_Splice_Site_p.S1033_splice|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Splice_Site_p.S1174_splice	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1085										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						CTTGTCATCACTCTGCCAGTA	0.403000													6	41					0.0215528	0.0223551	1	1	0
RYR2	6262	broad.mit.edu	37	1	237754126	237754126	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:237754126A>C	ENST00000366574.2	+	31	4311	c.3994A>C	c.(3994-3996)Aat>Cat	p.N1332H	RYR2_ENST00000542537.1_Missense_Mutation_p.N1316H|RYR2_ENST00000360064.6_Missense_Mutation_p.N1330H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1332	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)			TGGGCCCAAGAATGACTTGGA	0.517000													6	95					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328918	88328918	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:88328918C>T	ENST00000325089.6	+	2	1494	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	SLITRK5_ENST00000400028.3_Silent_p.R184R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	425						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)					CTGTCGTGCGCAGGACAGACT	0.572000													5	38					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168208	36168208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:36168208G>A	ENST00000357641.6	+	2	362	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	BRPF3_ENST00000534400.1_Missense_Mutation_p.A37T|BRPF3_ENST00000534694.1_Missense_Mutation_p.A37T|BRPF3_ENST00000543502.1_Missense_Mutation_p.A37T|BRPF3_ENST00000443324.2_Missense_Mutation_p.A37T|BRPF3_ENST00000339717.7_Missense_Mutation_p.A37T	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	37					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						ATATGCCCAGGCCCAGCGGAT	0.582000													5	70					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473175	22473175	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:22473175C>T	ENST00000557788.2	-	0	95																											TCTCCGAAGGCTTCACCAGTC	0.652000													9	96					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506784	155506784	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155506784C>T	ENST00000302053.3	-	5	1875	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	FGA_ENST00000403106.3_Silent_p.K599K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	599					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)	TTTTATAGCTCTTGCTTTCAA	0.458000													12	65					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661321	6661321	+	Silent	SNP	G	G	A	rs140183045	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6661321G>A	ENST00000299441.3	-	2	1935	c.1524C>T	c.(1522-1524)gtC>gtT	p.V508V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	508	Cadherin 5.				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)		GGCTATAAGTGACCTGACCAT	0.592000													6	25					0	0	1	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38708932	38708932	+	RNA	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38708932A>G	ENST00000417039.1	-	0	696																											CTCGCCAGGCATCCTCGTGGA	0.577000													7	13					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18765618	18765618	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:18765618C>A	ENST00000396170.1	-	4	1490	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	PTPN5_ENST00000396167.2_Missense_Mutation_p.G76C|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.G52C|PTPN5_ENST00000358540.2_Missense_Mutation_p.G76C|PTPN5_ENST00000396171.4_Missense_Mutation_p.G76C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	76						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTCCCAGCGCCTCGAGGTGGT	0.637000													18	152					3.32936e-07	4.28363e-07	1	1	0
GC	2638	broad.mit.edu	37	4	72631247	72631247	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:72631247A>T	ENST00000273951.8	-	4	718	c.375T>A	c.(373-375)gcT>gcA	p.A125A	GC_ENST00000513476.1_Silent_p.A125A|GC_ENST00000504199.1_Silent_p.A144A|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	125	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)	GGTGTTTCAGAGCAGCCATGC	0.502000													18	128					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76264621	76264621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:76264621G>A	ENST00000274368.4	+	7	1302	c.880G>A	c.(880-882)Gtg>Atg	p.V294M	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	294					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)		CGTAAATCGTGTGACTTTTGA	0.453000													5	64					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139164331	139164331	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:139164331G>C	ENST00000423192.1	+	5	719	c.558G>C	c.(556-558)ctG>ctC	p.L186L	ECT2L_ENST00000367682.2_Silent_p.L186L|ECT2L_ENST00000541398.1_Silent_p.L117L			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	186					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						AAAAGTGCCTGAGGAAAAGAA	0.398000			"""N, Splice, Mis"""		ETP ALL								11	75					0	0	1	0	0
IFNA8	3445	broad.mit.edu	37	9	21409540	21409540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:21409540G>C	ENST00000380205.1	+	1	395	c.365G>C	c.(364-366)tGt>tCt	p.C122S		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	122				SCVM -> VLCD (in Ref. 3; CAA23806 and 4; CAA23811).	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)		CTGGAGTCCTGTGTGATGCAG	0.478000													12	155					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78943013	78943013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:78943013C>A	ENST00000545128.1	+	32	4885	c.4347C>A	c.(4345-4347)tgC>tgA	p.C1449*		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					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						GTGGGAGCTGCATGGCCAACG	0.602000													14	193					0.0242445	0.0251148	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77407610	77407610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:77407610C>A	ENST00000560626.2	-	7	4604	c.4129G>T	c.(4129-4131)Gtc>Ttc	p.V1377F	PEAK1_ENST00000312493.4_Missense_Mutation_p.V1377F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1377	Protein kinase.			LAVR -> SQEF (in Ref. 2; BAC87076).	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										CTCTGCCGGACAGCCAAGCTG	0.438000													5	60					0.0215528	0.0223551	1	1	0
CDH20	28316	broad.mit.edu	37	18	59195439	59195439	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:59195439C>G	ENST00000262717.4	+	7	1655	c.1257C>G	c.(1255-1257)acC>acG	p.T419T	CDH20_ENST00000536675.2_Silent_p.T419T|CDH20_ENST00000538374.1_Silent_p.T419T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	419	Cadherin 4.				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)				CAGATGTGACCAACAACTCAA	0.433000													33	176					0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64079699	64079699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:64079699G>T	ENST00000508024.1	+	4	490	c.289G>T	c.(289-291)Gga>Tga	p.G97*	CWC27_ENST00000381070.3_Nonsense_Mutation_p.G97*			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	97	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TAATCGGAGAGGACTGGTTGC	0.393000													9	152					5.4927e-09	7.57356e-09	1	1	0
AMT	275	broad.mit.edu	37	3	49455133	49455133	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:49455133C>A	ENST00000273588.3	-	9	1354	c.1052G>T	c.(1051-1053)tGc>tTc	p.C351F	AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.C254F|AMT_ENST00000538581.1_Missense_Mutation_p.C295F|AMT_ENST00000458307.2_Missense_Mutation_p.C307F|AMT_ENST00000395338.2_Missense_Mutation_p.C351F	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	351					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGGGGAGGGGCAGCCACTAGT	0.597000													29	79					7.26314e-15	1.1052e-14	1	1	0
MARCH1	55016	broad.mit.edu	37	4	164506925	164506925	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:164506925C>T	ENST00000503008.1	-	6	1375	c.399G>A	c.(397-399)gaG>gaA	p.E133E	MARCH1_ENST00000514618.1_Silent_p.E389E|MARCH1_ENST00000274056.7_Silent_p.E133E|MARCH1_ENST00000339875.5_Silent_p.E116E	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	133					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAGCTTGGTCTCCATTATGA	0.483000													14	69					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579830	140579830	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140579830T>C	ENST00000354757.3	+	1	483	c.483T>C	c.(481-483)gaT>gaC	p.D161D	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		161	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGATTTAGATGTAGGAATCA	0.408000													5	83					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137716	40137716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:40137716G>A	ENST00000278198.2	-	2	2090	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R43W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R43W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R43W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	43					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)				GTCTGAGCCCGCACCAGACCA	0.542000													7	32					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806472	6806472	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6806472C>A	ENST00000307401.4	+	1	225	c.204C>A	c.(202-204)ctC>ctA	p.L68L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	68					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)		AGCTCTCTCTCATGGACCTCC	0.557000													16	143					1.15088e-07	1.50471e-07	1	1	0
PSD3	23362	broad.mit.edu	37	8	18490169	18490169	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:18490169A>T	ENST00000440756.2	-	11	2472	c.2370T>A	c.(2368-2370)agT>agA	p.S790R	PSD3_ENST00000327040.8_Missense_Mutation_p.S788R|PSD3_ENST00000428502.2_Missense_Mutation_p.S117R|PSD3_ENST00000523619.1_Missense_Mutation_p.S723R|PSD3_ENST00000286485.8_Missense_Mutation_p.S254R			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	789	PH.				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)		CCAAGAATCCACTTTTGTACA	0.368000													4	48					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518646	113518646	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:113518646C>G	ENST00000284601.3	-	4	2569	c.2501G>C	c.(2500-2502)aGg>aCg	p.R834T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	834					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						ACATTTCTCCCTGTCATGTGT	0.373000													9	117					0	0	1	0	0
CD99	4267	broad.mit.edu	37	X	2645376	2645376	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:2645376G>T	ENST00000381184.1	+	9	599	c.518G>T	c.(517-519)cGt>cTt	p.R173L	CD99_ENST00000482405.2_Intron|CD99_ENST00000381187.3_Intron|CD99_ENST00000381192.3_Intron			P14209	CD99_HUMAN	CD99 molecule	0			N -> I (in dbSNP:rs4717).		cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGGATCCGCCGTGAAGCTGGG	0.502000													6	22					0.00198382	0.00216905	1	1	0
RNF40	9810	broad.mit.edu	37	16	30774845	30774845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:30774845C>A	ENST00000324685.6	+	4	842	c.407C>A	c.(406-408)aCt>aAt	p.T136N	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.T136N|RNF40_ENST00000563683.1_Missense_Mutation_p.T136N	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	136					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)			TGTGATGGGACTCCTCTCCCA	0.617000													11	57					4.68919e-08	6.23169e-08	1	1	0
DPEP1	1800	broad.mit.edu	37	16	89703741	89703741	+	Missense_Mutation	SNP	G	G	A	rs148240484	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:89703741G>A	ENST00000393092.3	+	7	1012	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	DPEP1_ENST00000421184.1_Missense_Mutation_p.V241M|DPEP1_ENST00000261615.4_Missense_Mutation_p.V241M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	241					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGCCTACAGCGTGTGCGCAAG	0.687000													11	34					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477633	6477633	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:6477633G>A	ENST00000525074.1	-	6	1717	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	TRIM3_ENST00000537602.1_Silent_p.P363P|TRIM3_ENST00000536344.1_Silent_p.P322P|TRIM3_ENST00000345851.3_Silent_p.P441P|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Silent_p.P441P	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	441					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)		CATGGCTGCCGGGGCCGCCAG	0.667000													6	36					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914628	94914628	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:94914628C>G	ENST00000334708.3	-	2	548	c.484G>C	c.(484-486)Gga>Cga	p.G162R	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	162					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)		GCAAAAGCTCCATAAAGCTCC	0.468000													15	232					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89474740	89474740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474740C>T	ENST00000370481.4	-	10	1769	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	517						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCTCTTTCTCTTCCATCATC	0.438000													10	58					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16911675	16911675	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:16911675C>T	ENST00000377833.4	-	59	9479	c.9414G>A	c.(9412-9414)caG>caA	p.Q3138Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3138	CUB 23.				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)	CTTTTGCTGTCTGAAATGAAT	0.433000													10	118					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119460324	119460324	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:119460324G>T	ENST00000450136.1	+	2	464	c.303G>T	c.(301-303)cgG>cgT	p.R101R	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.R101R|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	101					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						TCATGTGTCGGTCCTGTGGGC	0.597000													16	100					9.16793e-09	1.24709e-08	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79960036	79960036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:79960036G>T	ENST00000360280.3	+	52	7527	c.7267G>T	c.(7267-7269)Gaa>Taa	p.E2423*	VPS13A_ENST00000376634.4_Nonsense_Mutation_p.E2423*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.E2384*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.E2423*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2423					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						CACAAAGAATGAACTTGTTCA	0.318000													6	107					0.0215528	0.0223551	1	1	0
PSD4	23550	broad.mit.edu	37	2	113940308	113940308	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:113940308G>A	ENST00000245796.6	+	2	470	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PSD4_ENST00000441564.2_Missense_Mutation_p.R92Q|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	92					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCAAACCCGGGCCACTGAC	0.642000													8	55					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39376173	39376173	+	Missense_Mutation	SNP	G	G	T	rs73078542	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39376173G>T	ENST00000545653.1	-	12	2640	c.2110C>A	c.(2110-2112)Cca>Aca	p.P704T	DAB2_ENST00000339788.6_Missense_Mutation_p.P507T|DAB2_ENST00000320816.6_Missense_Mutation_p.P725T|DAB2_ENST00000509337.1_Missense_Mutation_p.P704T	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	725	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	p.P725S(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)			TTGGTAACTGGCAGGGAAACT	0.428000													5	73					0.0215528	0.0223551	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761496	96761496	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:96761496G>T	ENST00000295266.4	+	1	258	c.195G>T	c.(193-195)atG>atT	p.M65I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	65					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)	ACTACAGGATGATGCTGACTG	0.463000													5	59					0.000602214	0.000673014	1	1	0
TAOK3	51347	broad.mit.edu	37	12	118619223	118619223	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:118619223C>T	ENST00000392533.3	-	15	2009	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	TAOK3_ENST00000537952.1_Missense_Mutation_p.E47K|TAOK3_ENST00000419821.2_Missense_Mutation_p.E507K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	507					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)					TTCTCCAGCTCGATGGACGAG	0.562000											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	63					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659320	39659320	+	Missense_Mutation	SNP	C	C	G	rs140780704	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:39659320C>G	ENST00000246635.3	-	4	812	c.766G>C	c.(766-768)Ggc>Cgc	p.G256R	KRT13_ENST00000587544.1_Missense_Mutation_p.G256R|KRT13_ENST00000336861.3_Missense_Mutation_p.G256R	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	256	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGACCTGGCCGACCACCTGG	0.587000													75	314					0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804104	160804104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:160804104C>T	ENST00000392781.2	-	8	1186	c.439G>A	c.(439-441)Gat>Aat	p.D147N	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.D147N|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.D147N|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.D147N|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.D147N|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.D147N	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	147					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TCTAAAAAATCTTGTCGGATT	0.383000													17	101					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92014251	92014251	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:92014251C>G	ENST00000450295.1	-	5	1031	c.255G>C	c.(253-255)gtG>gtC	p.V85V	SEMA4D_ENST00000339861.4_Silent_p.V85V|SEMA4D_ENST00000455551.2_Silent_p.V85V|SEMA4D_ENST00000422704.2_Silent_p.V85V|SEMA4D_ENST00000420987.1_Silent_p.V85V|SEMA4D_ENST00000438547.2_Silent_p.V85V|SEMA4D_ENST00000343780.4_Silent_p.V85V|SEMA4D_ENST00000356444.2_Silent_p.V85V			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	85	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						CCTTCCAATACACCTGTTGGG	0.343000													5	79					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77108131	77108131	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:77108131G>A	ENST00000426216.2	+	25	2855		c.e25-1		ATP9B_ENST00000307671.7_Splice_Site|ATP9B_ENST00000543761.1_Splice_Site	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B						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)		TCTCTCTCCAGGCTGTGTTTT	0.562000													10	86					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683344	84683344	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:84683344G>T	ENST00000286744.5	+	24	4248	c.4024G>T	c.(4024-4026)Ggc>Tgc	p.G1342C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1342C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1342	Ig-like C2-type 3.					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)			ATCTCTGAGTGGCAATGTTTC	0.423000													11	104					5.50884e-06	6.76465e-06	1	1	0
CFAP221	200373	broad.mit.edu	37	2	120362332	120362332	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120362332C>A	ENST00000602047.1	+	10	1130	c.18C>A	c.(16-18)caC>caA	p.H6Q	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.H292Q			Q4G0U5	PCDP1_HUMAN		292						cilium	calmodulin binding					Colorectal(110;0.196)					TAAATTTTCACCGACCGCCAG	0.448000													10	61					1.58986e-06	1.99164e-06	1	1	0
TMEM217	221468	broad.mit.edu	37	6	37183008	37183008	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:37183008G>A	ENST00000336655.2	-	3	695	c.656C>T	c.(655-657)cCc>cTc	p.P219L	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	219						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						acaggtgctgggggctgagct	0.403000													20	63					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89512990	89512990	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:89512990C>A	ENST00000498435.1	-	0	299																											GAAATCTGTCCCAGATCCACT	0.493000													17	104					2.37509e-13	3.54727e-13	1	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133661523	133661523	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:133661523C>T	ENST00000310926.4	-	11	1824	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	SLCO2A1_ENST00000493729.1_Silent_p.P441P	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	517					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						GGAAGATGGCCGGGAGCAGGA	0.562000													6	90					0	0	1	0	0
REEP3	221035	broad.mit.edu	37	10	65354573	65354573	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:65354573C>T	ENST00000373758.4	+	3	324	c.141C>T	c.(139-141)ctC>ctT	p.L47L	REEP3_ENST00000298249.4_Silent_p.L32L	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	47						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTTGCTCTCTATACTGTGA	0.353000													6	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585325	179585325	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179585325G>T	ENST00000589042.1	-	80	23388	c.23164C>A	c.(23164-23166)Caa>Aaa	p.Q7722K	TTN_ENST00000342992.6_Missense_Mutation_p.Q6478K|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q7405K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7405	Ig-like 59.						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)			ATTTCACATTGGAGAATCACA	0.388000													5	25					1.23904e-05	1.49648e-05	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113519006	113519006	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113519006G>C	ENST00000297405.5	-	29	5053	c.4809C>G	c.(4807-4809)aaC>aaG	p.N1603K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N1563K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N1499K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N1603K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1603	CUB 9.					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						GATGAGGGAAGTTTGGTGAAA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	53					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113483598	113483598	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:113483598C>T	ENST00000505019.1	-	18	4751	c.4626G>A	c.(4624-4626)ctG>ctA	p.L1542L		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										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)		TCAAAGTAGTCAGTTCTGTGC	0.353000													3	10					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672399	75672399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:75672399C>T	ENST00000370855.5	-	24	2166	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Missense_Mutation_p.D555N	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	685						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						CTTTCCAGATCTTCACCTGTA	0.413000													11	67					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49723237	49723237	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:49723237G>T	ENST00000551245.1	+	11	1275	c.1164_splice	c.e11+1	p.W388_splice	TROAP_ENST00000547923.1_Splice_Site_p.W96_splice|TROAP_ENST00000257909.3_Splice_Site_p.W388_splice			Q12815	TROAP_HUMAN	trophinin associated protein	388					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						CCCTGCCCTGGGTAAGTATCA	0.607000													14	41					3.27435e-08	4.37302e-08	1	1	0
FAM220A	84792	broad.mit.edu	37	7	6370094	6370094	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:6370094A>T	ENST00000313324.4	-	2	1159	c.692T>A	c.(691-693)cTt>cAt	p.L231H		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	231						nucleus											GGTGCTTTTAAGCATTTTCTT	0.408000													19	97					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736094	4736094	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:4736094G>A	ENST00000545990.2	-	5	2498	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V	AKAP3_ENST00000228850.1_Silent_p.V658V	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	658					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTATCTGGCTGACAGCCATCT	0.507000													5	63					0	0	1	0	0
WDR53	348793	broad.mit.edu	37	3	196281250	196281250	+	Silent	SNP	G	G	A	rs149053894	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:196281250G>A	ENST00000332629.5	-	4	1476	c.909C>T	c.(907-909)aaC>aaT	p.N303N	WDR53_ENST00000429115.1_Silent_p.N142N|WDR53_ENST00000433160.1_Silent_p.N144N	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	303										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTACTGAAGCGTTAGTATTTC	0.398000													14	124					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482369	142482369	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:142482369C>T	ENST00000603901.1	+	0	749					NR_001296.3																						AGCTAAAGCCCCTGGTCACTC	0.502000													6	73					0	0	1	0	0
OOSP2	219990	broad.mit.edu	37	11	59812145	59812145	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:59812145T>A	ENST00000278855.2	+	3	430	c.243_splice	c.e3-1	p.V82_splice	PLAC1L_ENST00000532905.1_Splice_Site_p.V51_splice	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		82						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						CTCTCCTAGGTAGTTTCTGAG	0.388000													11	34					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452994	64452994	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:64452994G>C	ENST00000394323.2	-	2	911	c.411C>G	c.(409-411)ttC>ttG	p.F137L		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		137						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ccatggaactgaagattacgg	0.448000													5	35					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)		GGGGGCAGCTCGTGGTGAGGC	0.567000		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)			13	49					9.31168e-06	1.13653e-05	1	1	0
ANK2	287	broad.mit.edu	37	4	114277745	114277745	+	Missense_Mutation	SNP	C	C	A	rs146085234	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:114277745C>A	ENST00000357077.4	+	38	8024	c.7971C>A	c.(7969-7971)agC>agA	p.S2657R	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2624R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2624					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)		CTTCGGAGAGCAGGAAGGTGT	0.483000													14	68					1.5842e-08	2.14052e-08	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182374391	182374391	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:182374391G>A	ENST00000397033.2	+	16	2132	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	568					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)	TTAGAAAGATGTGCGGGACAT	0.403000													7	80					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936587	30936587	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:30936587G>C	ENST00000355537.3	+	2	2265	c.2118G>C	c.(2116-2118)caG>caC	p.Q706H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	706					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)					GCCTCTCCCAGACCGGGAGTG	0.682000													6	32					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145691	107145691	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:107145691T>C	ENST00000245323.4	-	5	848	c.699A>G	c.(697-699)tcA>tcG	p.S233S		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	233					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tgatgCATCCTGAAGCAATCC	0.567000													15	64					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515259	56515259	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:56515259C>T	ENST00000390649.3	+	2	240	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	80	DAPIN.					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)		TTCAGACATTCAAGGAATTAC	0.438000													9	99					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34810251	34810251	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:34810251G>T	ENST00000338074.2	+	21	2733	c.2572G>T	c.(2572-2574)Gta>Tta	p.V858L	EPB41L1_ENST00000373950.2_Missense_Mutation_p.V749L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.V678L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.V857L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.V756L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.V756L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	858	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGATATGCTGGTAACCAAAGC	0.522000													13	115					1.65356e-20	2.56938e-20	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8389292	8389292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:8389292C>T	ENST00000381196.4	-	34	4869	c.4326G>A	c.(4324-4326)atG>atA	p.M1442I	PTPRD_ENST00000397611.3_Missense_Mutation_p.M1032I|PTPRD_ENST00000397617.3_Missense_Mutation_p.M1035I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M1442I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1429I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M1032I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1420I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M1035I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1442I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M1036I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M1035I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1442	Tyrosine-protein phosphatase 1.				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)		GTTCCCATATCATTCTCCAAA	0.393000										TSP Lung(15;0.13)			35	122					0	0	1	0	0
FAM9A	171482	broad.mit.edu	37	X	8764377	8764377	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:8764377T>C	ENST00000543214.1	-	6	555	c.420A>G	c.(418-420)atA>atG	p.I140M	FAM9A_ENST00000381003.3_Missense_Mutation_p.I140M	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	140						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTGCTTTATCTATTTTTATCA	0.303000													3	9					0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70175525	70175525	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:70175525A>G	ENST00000342745.4	+	5	903	c.590A>G	c.(589-591)cAg>cGg	p.Q197R		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	197						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)		CCCAGAGTACAGATTGTGCTG	0.582000													16	70					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76257309	76257309	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:76257309G>A	ENST00000529032.1	+	19	3742	c.3742G>A	c.(3742-3744)Gct>Act	p.A1248T	C11orf30_ENST00000533248.1_Missense_Mutation_p.A1157T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1249T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A1150T|C11orf30_ENST00000524767.1_Missense_Mutation_p.A1263T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1249T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1248T|C11orf30_ENST00000343878.3_Intron			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1248					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						CCAAAAGAAAGCTGAAGAGAG	0.438000													14	91					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12557595	12557595	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:12557595G>T	ENST00000358136.3	+	68	12834	c.12704G>T	c.(12703-12705)gGg>gTg	p.G4235V	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.G233V|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4210V|VPS13D_ENST00000543710.1_Missense_Mutation_p.G39V|VPS13D_ENST00000471923.1_5'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4234					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)		TGCTGCACGGGGCCCCAGGGG	0.502000													8	43					4.68919e-08	6.23169e-08	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701371	143701371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:143701371C>A	ENST00000408922.2	+	1	350	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	94					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)					GCATCTCTTTCACACTCTGTA	0.478000													10	168					3.86212e-05	4.52916e-05	1	1	0
ZNF121	7675	broad.mit.edu	37	19	9677154	9677154	+	Missense_Mutation	SNP	C	C	A	rs142823332		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9677154C>A	ENST00000586602.1	-	6	1051	c.635G>T	c.(634-636)cGc>cTc	p.R212L	ZNF121_ENST00000320451.6_Missense_Mutation_p.R212L			P58317	ZN121_HUMAN	zinc finger protein 121	212				R -> C (in Ref. 2; M99593).	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						AAGGCCTGAGCGCCCAGCGAA	0.408000													16	62					1.52009e-12	2.2454e-12	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31855669	31855669	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:31855669G>C	ENST00000396184.3	-	16	1886	c.1682C>G	c.(1681-1683)tCt>tGt	p.S561C	PDE1C_ENST00000321453.7_Missense_Mutation_p.S561C|PDE1C_ENST00000396191.1_Missense_Mutation_p.S561C|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.S561C|PDE1C_ENST00000396193.1_Missense_Mutation_p.S621C	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	561					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)			AGCTTTGCCAGATGCGCCTTC	0.507000													9	151					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795355	142795355	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:142795355G>T	ENST00000370498.1	-	2	1076	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	108										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.527000													21	249					2.20474e-14	3.34855e-14	1	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740025	140740025	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140740025C>A	ENST00000522605.1	+	1	323	c.323C>A	c.(322-324)aCt>aAt	p.T108N	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_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)			GATTTCGATACTGTCGCTGAA	0.383000													18	77					2.35188e-11	3.41784e-11	1	1	0
CPED1	79974	broad.mit.edu	37	7	120655770	120655770	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:120655770C>T	ENST00000310396.5	+	3	768	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.L101F|CPED1_ENST00000450913.2_Missense_Mutation_p.L101F	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AAGGGCCATACTCTACAGGCC	0.428000													9	28					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96961275	96961275	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:96961275C>A	ENST00000323853.5	-	14	1870	c.1793G>T	c.(1792-1794)cGc>cTc	p.R598L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	598	Helicase ATP-binding 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						ACCACCCTTGCGGGTGATGAT	0.562000													6	85					0.00116845	0.00129152	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73849780	73849780	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:73849780T>C	ENST00000334126.7	-	5	1166	c.940A>G	c.(940-942)Aag>Gag	p.K314E	C2CD3_ENST00000313663.7_Missense_Mutation_p.K314E|C2CD3_ENST00000539061.1_Missense_Mutation_p.K314E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	314						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)					AGAAGATCCTTGGTAGGGAGG	0.418000													11	172					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52789977	52789977	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:52789977G>T	ENST00000257974.2	-	7	1185	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	370	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)		GCCTCGCCCTGCTGCTCTGCC	0.627000													4	34					2.56e-06	3.18718e-06	1	1	0
A3GALT2	127550	broad.mit.edu	37	1	33778153	33778153	+	Missense_Mutation	SNP	G	G	A	rs72889865	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:33778153G>A	ENST00000442999.3	-	3	145	c.146C>T	c.(145-147)tCg>tTg	p.S49L	RP11-415J8.3_ENST00000457957.2_RNA|RP11-415J8.3_ENST00000588828.1_RNA	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				CATTGTGGCCGAAGGGCAGAC	0.632000													6	105					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143790809	143790809	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:143790809G>A	ENST00000264170.4	+	12	1218	c.960G>A	c.(958-960)ctG>ctA	p.L320L	KYNU_ENST00000409512.1_Silent_p.L320L	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	320					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)	TCTCAGAACTGCAGTTAATCC	0.368000													23	142					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056433	48056433	+	Missense_Mutation	SNP	G	G	T	rs145073310	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:48056433G>T	ENST00000316364.5	+	11	1467	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	SEMA6D_ENST00000358066.4_Missense_Mutation_p.R343L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R343L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R343L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R343L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R343L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R343L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R343L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	343	Sema.				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)		TTCAAAGGACGGTTTAAGGAA	0.418000													8	63					0.0477658	0.0489781	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27514201	27514201	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:27514201C>G	ENST00000356183.4	-	11	1901	c.1886G>C	c.(1885-1887)cGc>cCc	p.R629P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R629P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	629						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						CTCGATTAAGCGAAGATTGGT	0.488000													3	16					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903751	4903751	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:4903751C>A	ENST00000380378.1	+	1	703	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	OR51T1_ENST00000322049.1_Missense_Mutation_p.L208M|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	208					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)		TCAGCTCTACCTGAATGGCAC	0.448000													7	93					0.00198382	0.00216905	1	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933598	209933598	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:209933598G>C	ENST00000367024.1	+	3	730	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E72Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E72Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	72						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)		GAGGAACCTGGAGCTAGAGGA	0.612000													5	43					0	0	1	0	0
TSN	7247	broad.mit.edu	37	2	122514814	122514814	+	Splice_Site	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:122514814A>C	ENST00000389682.3	+	2	313		c.e2-1		TSN_ENST00000409193.1_Splice_Site|TSN_ENST00000498545.1_Intron|TSN_ENST00000536142.1_Splice_Site	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin						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)				AATTCTCTCTAGGAAATCAGA	0.363000													7	56					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079872	57079872	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:57079872C>G	ENST00000316981.3	-	5	912	c.433G>C	c.(433-435)Gca>Cca	p.A145P	PLAG1_ENST00000429357.2_Missense_Mutation_p.A145P|PLAG1_ENST00000423799.2_Missense_Mutation_p.A63P	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	145	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCACTTGTTGCGGCATGCAAG	0.468000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								4	47					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40768857	40768857	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:40768857C>T	ENST00000372748.3	-	29	1645	c.1548_splice	c.e29-1	p.G517_splice	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	517	Triple-helical region 3 (COL3).				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)			GCATCCCGGCCCTGAAAGCAG	0.632000													3	18					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22418000	22418000	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:22418000T>G	ENST00000344548.3	+	7	817	c.566T>G	c.(565-567)gTg>gGg	p.V189G	CDC42_ENST00000421089.2_Missense_Mutation_p.V231G|CDC42_ENST00000400259.1_Missense_Mutation_p.V189G	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	189					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CGCAGGTGTGTGCTGCTATGA	0.418000													14	55					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754488	31754488	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:31754488C>T	ENST00000405650.1	-	0	752				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AATGATCTCACCGAGGAAATT	0.463000													4	25					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801872	185801872	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:185801872A>G	ENST00000302277.6	+	4	2343	c.1749A>G	c.(1747-1749)aaA>aaG	p.K583K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	583						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						TAAGGTTGAAAGAGACCCATG	0.299000													7	60					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25924662	25924662	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:25924662G>C	ENST00000356865.6	-	21	4437	c.4326C>G	c.(4324-4326)tcC>tcG	p.S1442S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1442					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)		GCGACCAGGAGGAAATCCAGT	0.612000													10	41					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108779	75108779	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:75108779C>A	ENST00000309664.5	+	3	481	c.342C>A	c.(340-342)taC>taA	p.Y114*	LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.Y114*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	114	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGTGTGGTACACCCGGGGCA	0.672000													11	79					5.50884e-06	6.76465e-06	1	1	0
OR2M7	391196	broad.mit.edu	37	1	248486989	248486989	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248486989G>T	ENST00000317965.2	-	1	910	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	294					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)			TCACTTCCTTGTTGCGGAGGC	0.433000													17	71					2.23348e-06	2.78496e-06	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42281446	42281446	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:42281446G>C	ENST00000282030.5	+	2	431	c.135G>C	c.(133-135)ggG>ggC	p.G45G	SETBP1_ENST00000426838.4_Silent_p.G45G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	45						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)		CAGGACCTGGGAAGGGGATCC	0.627000									Schinzel-Giedion syndrome				4	42					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168127602	168127602	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:168127602T>A	ENST00000519560.1	-	27	3346	c.2927A>T	c.(2926-2928)cAc>cTc	p.H976L	SLIT3_ENST00000404867.3_Missense_Mutation_p.H976L|SLIT3_ENST00000332966.8_Missense_Mutation_p.H983L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	976	EGF-like 2.				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)			CCCATCCTTGTGGCTGTCACT	0.522000													6	17					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189270	53189270	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:53189270T>G	ENST00000417996.2	-	1	631	c.557A>C	c.(556-558)gAg>gCg	p.E186A	KRT3_ENST00000309505.3_Missense_Mutation_p.E186A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	186	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GGGGTCGATCTCCACATTGAG	0.547000													15	45					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938651	2938651	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:2938651C>A	ENST00000378404.2	+	1	606	c.401C>A	c.(400-402)cCc>cAc	p.P134H		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	134						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)		TTCGGCGTGCCCGCTTTCTAC	0.632000													5	58					0.000602214	0.000673014	1	1	0
TCP10L2	401285	broad.mit.edu	37	6	167585672	167585672	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:167585672G>T	ENST00000366832.2	+	2	171	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	14										endometrium(1)|kidney(2)|lung(3)	6						GCCCAAGGAGGGCACCCACCC	0.657000													4	16					1	1	1	1	0
MASP1	5648	broad.mit.edu	37	3	186974553	186974553	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:186974553T>C	ENST00000337774.5	-	5	1032	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	MASP1_ENST00000392472.2_Missense_Mutation_p.T102A|MASP1_ENST00000392470.2_Missense_Mutation_p.T189A|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.T215A|MASP1_ENST00000169293.6_Missense_Mutation_p.T215A	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	215	CUB 2.|Interaction with FCN2.				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)		AGCTCGATGGTATACAGGCAT	0.512000													9	131					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197326133	197326133	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:197326133T>C	ENST00000367400.3	+	5	1296	c.1161T>C	c.(1159-1161)ccT>ccC	p.P387P	CRB1_ENST00000543483.1_Silent_p.P86P|CRB1_ENST00000535699.1_Silent_p.P318P|CRB1_ENST00000538660.1_Silent_p.P387P|CRB1_ENST00000367399.2_Silent_p.P275P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	387	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						TCTGTCAGCCTGGATTCACAG	0.468000													20	50					0	0	1	0	0
CD320	51293	broad.mit.edu	37	19	8367821	8367821	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:8367821C>A	ENST00000301458.5	-	4	610	c.546G>T	c.(544-546)ggG>ggT	p.G182G	CD320_ENST00000537716.2_Silent_p.G140G	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	182					regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						TCACAGGGGGCCCCATGGTTG	0.602000													4	42					0.00024832	0.000283794	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38344913	38344913	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:38344913A>G	ENST00000374618.3	+	5	2039	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.K620E|ZNF33A_ENST00000432900.2_Missense_Mutation_p.K627E|ZNF33A_ENST00000458705.2_Missense_Mutation_p.K620E	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	620						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						CTTCTACCAGAAGTCACAACT	0.358000													5	62					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128396883	128396883	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:128396883G>A	ENST00000409455.1	-	10	1619	c.984C>T	c.(982-984)ccC>ccT	p.P328P	LIMS2_ENST00000409286.1_Silent_p.P181P|LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000409808.2_Silent_p.P328P|LIMS2_ENST00000409754.1_Silent_p.P181P|LIMS2_ENST00000410011.1_Silent_p.P328P|LIMS2_ENST00000355119.4_Silent_p.P333P|LIMS2_ENST00000545738.2_Silent_p.P355P|LIMS2_ENST00000410038.1_Silent_p.P181P|LIMS2_ENST00000409254.1_Silent_p.P181P|LIMS2_ENST00000324938.5_Silent_p.P357P			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	333					cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CTGTGGCCTTGGGCTGGGCCT	0.632000													8	123					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77792089	77792089	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:77792089T>C	ENST00000407578.2	-	21	3209	c.2943A>G	c.(2941-2943)ggA>ggG	p.G981G	MYCBP2_ENST00000357337.6_Silent_p.G943G|MYCBP2_ENST00000544440.2_Silent_p.G943G|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	943					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)		GAGTGGGACATCCCCTAGGTT	0.383000													9	61					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963800	88963800	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:88963800G>T	ENST00000333190.4	+	4	2113	c.1504G>T	c.(1504-1506)Ggt>Tgt	p.G502C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	502						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)			AACAGAATTGGGTAAGAAGCC	0.383000										HNSCC(36;0.09)			8	57					1.26484e-09	1.77122e-09	1	1	0
MIR517B	574483	broad.mit.edu	37	19	54224374	54224374	+	RNA	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:54224374C>G	ENST00000385102.1	+	0	45					NR_030205.1																						AAGAAAAGATCGTGCATCCCT	0.408000													31	108					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78217284	78217284	+	RNA	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:78217284A>T	ENST00000567226.1	-	0	218																											TCACATCCCCAGGTGAGTGGC	0.532000													4	36					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68613677	68613677	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:68613677G>T	ENST00000234313.7	+	5	695	c.516G>T	c.(514-516)agG>agT	p.R172S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	172	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)		AGTCTGTTAGGAATCGCCAGG	0.522000													12	36					2.68362e-12	3.94248e-12	1	1	0
GALNT15	117248	broad.mit.edu	37	3	16260957	16260957	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:16260957G>T	ENST00000339732.5	+	7	1943	c.1440G>T	c.(1438-1440)ctG>ctT	p.L480L	GALNT15_ENST00000437509.1_Silent_p.L480L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AAAGGAGACTGGGTTGTCGGA	0.532000													18	159					4.96729e-08	6.56885e-08	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139277987	139277987	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139277987C>A	ENST00000395297.1	-	4	426	c.256G>T	c.(256-258)Gct>Tct	p.A86S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	86										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)			AAGACCACAGCATCATTTATG	0.498000										HNSCC(54;0.14)			9	54					1.12685e-05	1.36711e-05	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41668079	41668079	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:41668079C>A	ENST00000400454.1	-	10	2562	c.2085G>T	c.(2083-2085)caG>caT	p.Q695H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	695	Ig-like C2-type 8.				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)				GGTCCCGTGGCTGAACCACAA	0.433000													10	44					0.00829132	0.00882659	1	1	0
HIP1	3092	broad.mit.edu	37	7	75178230	75178230	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:75178230C>G	ENST00000336926.6	-	23	2391	c.2365G>C	c.(2365-2367)Gcc>Ccc	p.A789P	HIP1_ENST00000434438.2_Missense_Mutation_p.A789P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	789	I/LWEQ.				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						GCTGAAGTGGCCGCCATCTCC	0.567000			T	PDGFRB	CMML								39	192					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146480533	146480533	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:146480533G>A	ENST00000392299.2	+	3	1220	c.750G>A	c.(748-750)caG>caA	p.Q250Q	GRM1_ENST00000361719.2_Silent_p.Q250Q|GRM1_ENST00000355289.4_Silent_p.Q250Q|GRM1_ENST00000282753.1_Silent_p.Q250Q|GRM1_ENST00000492807.2_Silent_p.Q250Q|GRM1_ENST00000507907.1_Silent_p.Q250Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	250					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)	TGGCTGCCCAGGAAGGCCTCT	0.512000													18	93					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95390855	95390855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:95390855G>C	ENST00000336148.5	-	13	2379	c.2255C>G	c.(2254-2256)tCt>tGt	p.S752C		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)			CCATACTCTAGACATTGCCTA	0.358000								Direct reversal of damage;Homologous recombination					9	34					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737172	4737172	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:4737172G>C	ENST00000545990.2	-	5	1420	c.896C>G	c.(895-897)tCc>tGc	p.S299C	AKAP3_ENST00000228850.1_Missense_Mutation_p.S299C	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	299					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTTCATGATGGAGACCATCAT	0.463000													5	47					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145515554	145515554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:145515554C>A	ENST00000528838.1	+	1	275	c.115C>A	c.(115-117)Ccg>Acg	p.P39T		NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	39						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)			CTGCTGGAGCCCGGTGAGGGC	0.801000													3	6					1	1	1	1	0
CFTR	1080	broad.mit.edu	37	7	117267747	117267747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:117267747G>A	ENST00000003084.6	+	22	3772	c.3640G>A	c.(3640-3642)Gat>Aat	p.D1214N	CFTR_ENST00000454343.1_Missense_Mutation_p.D1153N|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1214	ABC transporter 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)	GACTGTCAAAGATCTCACAGC	0.428000									Cystic Fibrosis				18	63					0	0	1	0	0
RPL7	6129	broad.mit.edu	37	8	74204133	74204133	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:74204133C>T	ENST00000396467.1	-	4	321	c.183G>A	c.(181-183)gtG>gtA	p.V61V	RPL7_ENST00000396466.1_Silent_p.V61V|RPL7_ENST00000352983.2_Silent_p.V101V|RPL7_ENST00000396465.1_Silent_p.V61V	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	101					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)			CCTTTGGGCTCACTCCATTGA	0.393000													14	117					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83352785	83352785	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:83352785C>A	ENST00000262752.2	-	19	1855	c.1848G>T	c.(1846-1848)ttG>ttT	p.L616F	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L616F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	616	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTACCCAGCCAACATTGTGT	0.308000													7	73					0.00307968	0.00332671	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35425630	35425630	+	Nonsense_Mutation	SNP	G	G	T	rs151297319		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:35425630G>T	ENST00000287272.2	+	3	357	c.337G>T	c.(337-339)Gaa>Taa	p.E113*	UNC5D_ENST00000420357.1_Nonsense_Mutation_p.E113*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.E108*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.E113*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.E113*			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	113	Ig-like.				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)		GAAGGTCCGCGAAGTGTTCAT	0.483000													14	194					2.31682e-05	2.74084e-05	1	1	0
RPLP0P2	113157	broad.mit.edu	37	11	61404303	61404303	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:61404303C>T	ENST00000496593.1	+	0	907					NR_002775.2																						TGCGGCAAGGCCGTGGTGCTG	0.557000													3	22					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928019	196928019	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:196928019G>T	ENST00000367415.4	+	5	736	c.622G>T	c.(622-624)Gta>Tta	p.V208L	CFHR2_ENST00000367421.3_Missense_Mutation_p.V208L|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	208	Sushi 4.					extracellular region		p.V208I(1)		large_intestine(2)|ovary(1)|skin(3)	6						AGATCCATGTGTAATATCACA	0.279000													6	25					0.00116845	0.00129152	1	1	0
KIF25	3834	broad.mit.edu	37	6	168431458	168431458	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:168431458A>C	ENST00000443060.2	+	4	489	c.98A>C	c.(97-99)tAt>tCt	p.Y33S	KIF25_ENST00000354419.2_Missense_Mutation_p.Y33S|KIF25_ENST00000351261.3_Missense_Mutation_p.Y33S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	33	Kinesin-motor.				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)		CTCAGGGTTTATGGTCCAGCA	0.478000													6	70					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396231	101396231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:101396231C>T	ENST00000372774.3	-	3	322	c.73G>A	c.(73-75)Gat>Aat	p.D25N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.D25N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	25	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						ccttcatcatcaggctctact	0.488000													3	20					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475422	16475422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:16475422C>A	ENST00000358432.5	-	3	428	c.274G>T	c.(274-276)Gag>Tag	p.E92*	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	92					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)	AAGATACGCTCAGCCTCTCCT	0.537000													13	67					1.49906e-05	1.79976e-05	1	1	0
C6	729	broad.mit.edu	37	5	41160391	41160391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:41160391C>A	ENST00000263413.3	-	11	1801	c.1537G>T	c.(1537-1539)Gag>Tag	p.E513*	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Nonsense_Mutation_p.E513*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	513	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)				GCTGCATACTCTTGCAAAGCT	0.522000													26	96					6.32553e-13	9.39527e-13	1	1	0
PROKR1	10887	broad.mit.edu	37	2	68882461	68882461	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:68882461C>A	ENST00000303786.3	+	3	1355	c.935C>A	c.(934-936)aCc>aAc	p.T312N	PROKR1_ENST00000394342.2_Missense_Mutation_p.T312N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	312						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						TTCTTCCCCACCGTGTTTGTG	0.572000													14	67					7.93312e-07	1.00312e-06	1	1	0
CFAP221	200373	broad.mit.edu	37	2	120362333	120362333	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120362333C>A	ENST00000602047.1	+	10	1131	c.19C>A	c.(19-21)Cga>Aga	p.R7R	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Silent_p.R293R			Q4G0U5	PCDP1_HUMAN		293						cilium	calmodulin binding					Colorectal(110;0.196)					AAATTTTCACCGACCGCCAGC	0.448000													11	62					1.08611e-07	1.42695e-07	1	1	0
MCC	4163	broad.mit.edu	37	5	112406805	112406805	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:112406805C>T	ENST00000302475.4	-	10	1904	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.L384L|MCC_ENST00000408903.3_Silent_p.L637L	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	447					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)		ACTGCAAGGCCAGCCTCAGCG	0.483000													8	77					0	0	1	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709239	38709239	+	RNA	SNP	T	T	C	rs112834477		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709239T>C	ENST00000417039.1	-	0	696																											GCCTCATATCTGGGGGAATGT	0.567000													24	65					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70118979	70118979	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:70118979A>T	ENST00000245479.2	+	2	923	c.551A>T	c.(550-552)aAc>aTc	p.N184I		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	184					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCGGTGAAGAACGGGCAGGCG	0.672000													13	81					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220853	20220853	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:20220853A>C	ENST00000361479.5	+	3	708	c.640A>C	c.(640-642)Aaa>Caa	p.K214Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K214Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	214	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAAGGAGTCCAAAAAGCCCaa	0.333000													5	22					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466453	68466453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:68466453G>A	ENST00000478136.1	+	3	632	c.142G>A	c.(142-144)Gca>Aca	p.A48T	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.A48T	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	48						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TGAAGTGATAGCAGCACACCG	0.478000													18	42					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113256776	113256776	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113256776G>C	ENST00000297405.5	-	65	10493	c.10249C>G	c.(10249-10251)Cct>Gct	p.P3417A	CSMD3_ENST00000343508.3_Missense_Mutation_p.P3377A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3248A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3347A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3417	Sushi 28.					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						GCATGAGCAGGAGTTTCTGGC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	73					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120620118	120620118	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120620118G>T	ENST00000263708.2	+	3	916	c.145G>T	c.(145-147)Gat>Tat	p.D49Y		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	49	FERM.					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)	ACAGAAACATGATCAGGGGCA	0.348000													9	48					0.00829132	0.00882659	1	1	0
RPAP1	26015	broad.mit.edu	37	15	41819207	41819207	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:41819207C>A	ENST00000304330.4	-	14	1922	c.1806G>T	c.(1804-1806)tgG>tgT	p.W602C	RPAP1_ENST00000561603.1_Missense_Mutation_p.W602C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	602						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCACAGGAGACCAACTGGTGG	0.547000													27	106					9.39395e-14	1.41347e-13	1	1	0
CD38	952	broad.mit.edu	37	4	15780132	15780132	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:15780132T>C	ENST00000226279.2	+	1	232	c.95T>C	c.(94-96)gTc>gCc	p.V32A		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	32					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AGTATCCTGGTCCTGATCCTC	0.662000													14	105					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31522450	31522450	+	Missense_Mutation	SNP	G	G	A	rs150976596	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:31522450G>A	ENST00000331075.5	+	3	1409	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	INPP5J_ENST00000405300.1_Missense_Mutation_p.D87N|INPP5J_ENST00000412277.2_Missense_Mutation_p.D387N|INPP5J_ENST00000404390.3_Missense_Mutation_p.D86N|INPP5J_ENST00000400294.2_Missense_Mutation_p.D87N			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	454	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TGACGACAGCGACGGCGCAGA	0.667000													12	175					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356286	201356286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:201356286G>A	ENST00000391967.2	-	3	504	c.203C>T	c.(202-204)gCa>gTa	p.A68V	LAD1_ENST00000367313.3_Missense_Mutation_p.A82V	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	68						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGGCACCTCTGCTTCTTCCAC	0.557000													10	56					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33697258	33697258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:33697258C>T	ENST00000253193.7	+	5	1784	c.1582C>T	c.(1582-1584)Cag>Tag	p.Q528*		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	528					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					ACTGCGCACGCAGGAATACAG	0.657000													5	17					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745717	77745717	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745717A>T	ENST00000409088.3	-	3	1692	c.1278T>A	c.(1276-1278)atT>atA	p.I426I	LRRTM4_ENST00000409884.1_Silent_p.I426I|LRRTM4_ENST00000409093.1_Silent_p.I426I|LRRTM4_ENST00000409282.1_Silent_p.I427I|LRRTM4_ENST00000409911.1_Silent_p.I427I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	426						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)		CACTCCCGGCAATAATTTTGT	0.493000													5	57					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445638	42445638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:42445638C>G	ENST00000381668.5	-	33	3298	c.3067G>C	c.(3067-3069)Gga>Cga	p.G1023R	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G1008R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1023					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)	GAGTAGATTCCAAAAAACACC	0.448000													4	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179462705	179462705	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179462705T>C	ENST00000589042.1	-	293	57416	c.57192A>G	c.(57190-57192)agA>agG	p.R19064R	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.R16496R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.R9999R|TTN_ENST00000591111.1_Silent_p.R17423R|TTN_ENST00000342175.6_Silent_p.R10191R|TTN_ENST00000359218.5_Silent_p.R10124R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17423	Fibronectin type-III 38.						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)			TGTTGACTGCTCTAACTCTAA	0.408000													21	96					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30629351	30629351	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:30629351T>A	ENST00000358107.4	-	4	748	c.749A>T	c.(748-750)cAa>cTa	p.Q250L	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.Q120L			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	120					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						GCTTTCCTTTTGGCAAAATTC	0.378000													5	62					0	0	1	0	0
MAPK14	1432	broad.mit.edu	37	6	36020566	36020566	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:36020566C>T	ENST00000229795.3	+	2	654	c.207C>T	c.(205-207)taC>taT	p.Y69Y	MAPK14_ENST00000229794.4_Silent_p.Y69Y|MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000310795.4_Silent_p.Y69Y	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	69	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|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 muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AAAGAACCTACAGAGAACTGC	0.378000													10	69					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24357694	24357694	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:24357694G>T	ENST00000175238.6	+	18	2010	c.1927G>T	c.(1927-1929)Gat>Tat	p.D643Y	ADAM7_ENST00000380789.1_Missense_Mutation_p.D643Y|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D415Y|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	643	Cys-rich.				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)		cttccaggtggatggccacgg	0.428000													3	19					0.00024832	0.000283794	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139672721	139672721	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139672721A>T	ENST00000303045.6	-	44	3689	c.3243T>A	c.(3241-3243)ggT>ggA	p.G1081G	COL22A1_ENST00000435777.1_Silent_p.G1061G|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1081	Collagen-like 9.|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)			TTCCTGGTGCACCCTAAGAGA	0.468000										HNSCC(7;0.00092)			6	50					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155303875	155303875	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:155303875T>C	ENST00000460012.1	-	5	846	c.489A>G	c.(487-489)agA>agG	p.R163R	PLCH1_ENST00000447496.2_Silent_p.R181R|PLCH1_ENST00000334686.6_Silent_p.R163R|PLCH1_ENST00000340059.7_Silent_p.R181R|PLCH1_ENST00000494598.1_Silent_p.R181R|PLCH1_ENST00000414191.1_Silent_p.R163R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	181	EF-hand 1.				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)			GTCTGACTTTTCTTCGGGGCA	0.353000													15	103					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83723604	83723604	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:83723604C>A	ENST00000297977.5	-	3	1238	c.1127G>T	c.(1126-1128)cGg>cTg	p.R376L	HDX_ENST00000506585.2_Missense_Mutation_p.R318L|HDX_ENST00000373177.2_Missense_Mutation_p.R376L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	376						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						TAATGAGGTCCGTGGTGTCAA	0.363000													5	22					0.000602214	0.000673014	1	1	0
OR51T1	401665	broad.mit.edu	37	11	4903750	4903750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:4903750C>A	ENST00000380378.1	+	1	702	c.702C>A	c.(700-702)taC>taA	p.Y234*	OR51T1_ENST00000322049.1_Nonsense_Mutation_p.Y207*|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	207					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)		TTCAGCTCTACCTGAATGGCA	0.443000													7	94					0.00198382	0.00216905	1	1	0
BAI3	577	broad.mit.edu	37	6	69703759	69703759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:69703759T>C	ENST00000370598.1	+	11	2655	c.1834T>C	c.(1834-1836)Tat>Cat	p.Y612H		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	612					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)				AAAAAATTTCTATGCAGGCGA	0.458000													28	148					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147964138	147964138	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:147964138C>A	ENST00000361727.3	+	21	3911	c.3395C>A	c.(3394-3396)cCt>cAt	p.P1132H	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P191H	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1132	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)			GATCATTATCCTTCTGTGAGT	0.458000										HNSCC(39;0.1)			16	100					4.75885e-15	7.26871e-15	1	1	0
PRSS58	136541	broad.mit.edu	37	7	141954934	141954934	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141954934G>T	ENST00000552471.1	-	3	696	c.377C>A	c.(376-378)aCt>aAt	p.T126N	PRSS58_ENST00000547058.2_Missense_Mutation_p.T126N			Q8IYP2	PRS58_HUMAN	protease, serine, 58	126	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTCAGAGATAGTTTGGTAGGG	0.403000													9	164					5.4927e-09	7.57356e-09	1	1	0
OR2T8	343172	broad.mit.edu	37	1	248085145	248085145	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248085145T>G	ENST00000319968.4	+	1	826	c.826T>G	c.(826-828)Tat>Gat	p.Y276D		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCAGCCTTCTATACTATGTT	0.493000													14	184					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942260	144942260	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:144942260G>A	ENST00000525985.1	-	2	5233	c.5162C>T	c.(5161-5163)cCc>cTc	p.P1721L				P58107	EPIPL_HUMAN	epiplakin 1	1721						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)			GTCGTCGCTGGGGTCCGCCAG	0.667000													19	90					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786768	45786768	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:45786768G>T	ENST00000397928.1	+	4	1000	c.555G>T	c.(553-555)cgG>cgT	p.R185R	TRPM2_ENST00000397932.2_Silent_p.R185R|TRPM2_ENST00000300481.9_Silent_p.R185R|TRPM2_ENST00000300482.5_Silent_p.R185R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	185						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						TGAAGCCGCGGCTGAAGAGCA	0.632000													6	44					0.00198382	0.00216905	1	1	0
FAM73B	84895	broad.mit.edu	37	9	131825526	131825526	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:131825526G>A	ENST00000358369.4	+	10	1240	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	FAM73B_ENST00000406926.2_Intron|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	338						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CCCTCAGGACGGAGCTGCTGG	0.692000													5	51					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47200530	47200530	+	Missense_Mutation	SNP	G	G	A	rs113148315		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:47200530G>A	ENST00000539589.1	-	9	1294	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	PACSIN3_ENST00000298838.6_Missense_Mutation_p.R318W	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	318					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						TCAGGGCTCCGGCCACCCTTC	0.612000													22	108					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86541495	86541495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:86541495C>T	ENST00000450689.2	-	15	2247	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.D521N|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.D448N	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	688						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTGCTAAAGTCATAGTGCAAA	0.378000													19	101					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53573696	53573696	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:53573696C>T	ENST00000025008.5	-	10	2027	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	RB1CC1_ENST00000435644.2_Missense_Mutation_p.E502K|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E502K|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	502					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)				CTTACAACCTCAACAACAGCT	0.358000													24	76					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105908	168105908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:168105908C>T	ENST00000409195.1	+	9	8095	c.8006C>T	c.(8005-8007)tCc>tTc	p.S2669F	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2669F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2447F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2494					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						ATTATGCAATCCAAATCAGCT	0.408000													15	67					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43709755	43709755	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:43709755G>C	ENST00000377564.3	+	2	584	c.191G>C	c.(190-192)aGa>aCa	p.R64T	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.R64T	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	64	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTTAATCGAAGAGATGGTGAG	0.458000													8	33					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67431900	67431900	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:67431900G>A	ENST00000349015.3	-	8	1278	c.840C>T	c.(838-840)ccC>ccT	p.P280P	ALDH3B2_ENST00000530069.1_Silent_p.P280P	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	280					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)	ACAGGGCCAGGGGCTTCTCCT	0.627000													19	142					0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926091	50926091	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50926091G>C	ENST00000595883.1	+	4	161	c.136G>C	c.(136-138)Gac>Cac	p.D46H	SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Missense_Mutation_p.D46H|SPIB_ENST00000270632.7_Missense_Mutation_p.D46H|SPIB_ENST00000596074.1_Intron	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	46	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.D46Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTCCCTGTGGGACTGGACTGT	0.647000													10	69					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43100272	43100272	+	Missense_Mutation	SNP	G	G	A	rs148069775		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:43100272G>A	ENST00000230419.4	+	7	1296	c.1075G>A	c.(1075-1077)Gcg>Acg	p.A359T	PTK7_ENST00000352931.2_Missense_Mutation_p.A359T|PTK7_ENST00000349241.2_Missense_Mutation_p.A359T|PTK7_ENST00000345201.2_Missense_Mutation_p.A359T|PTK7_ENST00000471863.1_Missense_Mutation_p.A359T|PTK7_ENST00000481273.1_Missense_Mutation_p.A367T	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	359	Ig-like C2-type 4.				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)			GTGGGAGCACGCGGGAGTCCG	0.627000													17	30					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38945426	38945426	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:38945426G>T	ENST00000450244.1	-	12	1970	c.1772C>A	c.(1771-1773)aCt>aAt	p.T591N	SCN11A_ENST00000456224.3_Missense_Mutation_p.T591N|SCN11A_ENST00000302328.3_Missense_Mutation_p.T591N|SCN11A_ENST00000444237.2_Missense_Mutation_p.T591N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	591					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)	CAAGAAGACAGTGTTGATGAT	0.433000													17	47					1.15088e-07	1.50471e-07	1	1	0
DPPA4	55211	broad.mit.edu	37	3	109050613	109050613	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:109050613G>T	ENST00000335658.6	-	4	412	c.358C>A	c.(358-360)Cgc>Agc	p.R120S	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	120						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GCACACAGGCGCTTATATGCA	0.433000													13	115					0.000151284	0.000174376	1	1	0
TMC5	79838	broad.mit.edu	37	16	19451506	19451506	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:19451506G>T	ENST00000396229.2	+	3	895	c.146G>T	c.(145-147)gGc>gTc	p.G49V	TMC5_ENST00000541464.1_Missense_Mutation_p.G49V|TMC5_ENST00000542583.2_Missense_Mutation_p.G49V|TMC5_ENST00000381414.4_Missense_Mutation_p.G49V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	49						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						GACTACCCCGGCACCAGGAGC	0.493000													17	93					7.07596e-05	8.23829e-05	1	1	0
APC2	10297	broad.mit.edu	37	19	1460307	1460307	+	Missense_Mutation	SNP	C	C	A	rs150932990		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:1460307C>A	ENST00000535453.1	+	10	3144	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Missense_Mutation_p.D203E|APC2_ENST00000233607.2_Missense_Mutation_p.D477E			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	477					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)		CCTTTGGGGACGTTGCCAACA	0.617000													15	67					1.3612e-06	1.71317e-06	1	1	0
AKAP10	11216	broad.mit.edu	37	17	19843111	19843111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:19843111C>T	ENST00000225737.6	-	8	1394	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D413N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	413	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGAAGTTATCTGCTGCCAAC	0.373000													7	47					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69606538	69606538	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:69606538G>A	ENST00000374403.3	+	19	2187	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	KIF4A_ENST00000374388.3_Missense_Mutation_p.R702H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	702	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						GTGCTCAGACGTAAAACGGAG	0.378000													14	14					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801952	148801952	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:148801952C>A	ENST00000378061.2	-	4	1143	c.1011G>T	c.(1009-1011)cgG>cgT	p.R337R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	337					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)			GGCGGAAGCACCGGTCACACT	0.667000													25	56					3.73808e-20	5.78615e-20	1	1	0
PNPLA6	10908	broad.mit.edu	37	19	7619586	7619586	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:7619586G>T	ENST00000221249.6	+	24	2928	c.2497G>T	c.(2497-2499)Gac>Tac	p.D833Y	PNPLA6_ENST00000600737.1_Missense_Mutation_p.D871Y|PNPLA6_ENST00000414982.3_Missense_Mutation_p.D881Y|PNPLA6_ENST00000545201.2_Missense_Mutation_p.D806Y|PNPLA6_ENST00000450331.3_Missense_Mutation_p.D833Y	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	872					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						GGGCCTGGGGGACCAGGAGCC	0.682000													5	61					1	1	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944461	55944461	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55944461A>C	ENST00000312298.1	+	1	368	c.368A>C	c.(367-369)tAt>tCt	p.Y123S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TATGACCGCTATGTGGCCATT	0.453000													15	100					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536837	44536837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:44536837G>T	ENST00000187879.8	+	4	1172	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G377V	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	337					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)				GTCCACACTGGAGAAAAGCCA	0.428000													9	83					0.00448238	0.00481618	1	1	0
ACAP3	116983	broad.mit.edu	37	1	1233269	1233269	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:1233269C>A	ENST00000354700.5	-	14	1263	c.1061G>T	c.(1060-1062)tGg>tTg	p.W354L	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.W312L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	354	PH.				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						AGCCTGGACCCAGGCTTGCCG	0.701000													8	43					0.0381472	0.0391651	1	1	0
KLHL18	23276	broad.mit.edu	37	3	47384244	47384244	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:47384244G>A	ENST00000232766.5	+	9	1282	c.1262G>A	c.(1261-1263)aGt>aAt	p.S421N	KLHL18_ENST00000455924.2_Missense_Mutation_p.S309N	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	421										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCGAATCGCAGTGCTGCTGGG	0.522000													9	42					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115468961	115468961	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:115468961G>C	ENST00000369522.3	+	22	2103	c.1863_splice	c.e22+1	p.E621_splice	SYCP1_ENST00000369518.1_Splice_Site_p.E621_splice	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	621					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)		TTCAGCAGGAGGTATGTATTT	0.259000													3	14					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766636	64766636	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:64766636G>T	ENST00000536360.1	-	3	1244	c.431C>A	c.(430-432)aCt>aAt	p.T144N				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	144					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)		AGCCACTTTAGTTGTACTACG	0.348000													13	25					1.05317e-09	1.4851e-09	1	1	0
SFMBT2	57713	broad.mit.edu	37	10	7218053	7218053	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:7218053C>A	ENST00000361972.4	-	17	1973	c.1883G>T	c.(1882-1884)cGa>cTa	p.R628L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R628L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	628					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						GGCACAGACTCGGCGGCAGAA	0.453000													8	79					3.09899e-07	3.99997e-07	1	1	0
N6AMT1	29104	broad.mit.edu	37	21	30255315	30255315	+	Silent	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:30255315A>C	ENST00000303775.5	-	2	238	c.213T>G	c.(211-213)gcT>gcG	p.A71A	N6AMT1_ENST00000351429.3_Silent_p.A71A	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	71					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						ACATGTACAAAGCCTGAGGGC	0.343000													8	38					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157160214	157160214	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:157160214C>G	ENST00000295927.3	+	3	737	c.592C>G	c.(592-594)Cca>Gca	p.P198A	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	198	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AAGCGTGCATCCAGTGAGACC	0.378000													39	103					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011481	21011481	+	Missense_Mutation	SNP	C	C	T	rs145334570	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:21011481C>T	ENST00000381545.3	+	5	554	c.335C>T	c.(334-336)tCt>tTt	p.S112F	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S112F|LST3_ENST00000381541.3_Missense_Mutation_p.S112F|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S112F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S112F|SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000540229.1_Missense_Mutation_p.S112F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	112			S -> A (in dbSNP:rs4149117).		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)					ATTTTGACATCTTTACCACAT	0.328000													14	81					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905570	129905570	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:129905570T>A	ENST00000368654.3	-	13	4909	c.4534A>T	c.(4534-4536)Aag>Tag	p.K1512*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.K1152*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1512	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)				AGACTTCTCTTGGACTGTGGC	0.502000													41	237					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654192	179654192	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179654192A>T	ENST00000589042.1	-	13	2195	c.1971T>A	c.(1969-1971)tcT>tcA	p.S657S	TTN_ENST00000342992.6_Silent_p.S657S|TTN_ENST00000460472.2_Silent_p.S611S|TTN_ENST00000591111.1_Silent_p.S657S|TTN_ENST00000360870.5_Silent_p.S657S|TTN_ENST00000342175.6_Silent_p.S611S|TTN_ENST00000359218.5_Silent_p.S611S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	657							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)			CTGCTATTGTAGACAAGGCAG	0.383000													7	86					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2482998	2482998	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2482998G>C	ENST00000397066.4	+	3	296	c.208G>C	c.(208-210)Gcc>Ccc	p.A70P		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	70	F-box.				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)				GGACAACCACGCCAGTGTGTG	0.607000													3	17					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777670	137777670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:137777670C>G	ENST00000350339.2	+	5	386	c.372C>G	c.(370-372)taC>taG	p.Y124*	FCN2_ENST00000291744.6_Nonsense_Mutation_p.Y162*	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	162	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGCCACGTACAAGCAGGGCT	0.677000													8	49					0	0	1	0	0
GAGE2B	645037	broad.mit.edu	37	X	49236841	49236841	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:49236841G>A	ENST00000381725.1	+	2	94	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_001098411.3	NP_001091881.1			G antigen 2B																		ATGAGTTGGCGAGGAAGATCG	0.463000													20	167					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33148763	33148763	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:33148763G>C	ENST00000374820.2	-	11	1175	c.1155C>G	c.(1153-1155)taC>taG	p.Y385*	PIGU_ENST00000452740.2_3'UTR			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	405					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AGGCATAGAAGTAATCAGAGA	0.592000													4	19					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751189	140751189	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140751189C>T	ENST00000576222.1	+	1	1359	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGGAGCCCTGGACCGGGA	0.468000													15	54					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725621	28725621	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:28725621G>C	ENST00000257197.3	-	7	1153	c.892C>G	c.(892-894)Cca>Gca	p.P298A	DSC1_ENST00000257198.5_Missense_Mutation_p.P298A|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	298	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)			CCGGTATCTGGGTGTATGGAG	0.388000													11	108					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29464014	29464014	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:29464014C>T	ENST00000182377.4	+	7	1090	c.822C>T	c.(820-822)gaC>gaT	p.D274D	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Silent_p.D274D|FAR2_ENST00000547116.1_Silent_p.D177D	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	274					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGCAGACGTAATTCCAG	0.418000													13	149					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168351917	168351917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:168351917G>T	ENST00000366806.2	+	30	4004	c.3862G>T	c.(3862-3864)Gag>Tag	p.E1288*	MLLT4_ENST00000400822.3_Nonsense_Mutation_p.E1287*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.E1271*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.E1295*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.E1288*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.E1288*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1288					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)		TTACCAACTTGAGCGGCATCG	0.413000			T	MLL	AL								7	68					1.26484e-09	1.77122e-09	1	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128851369	128851369	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:128851369C>T	ENST00000310343.9	-	16	1679	c.1680G>A	c.(1678-1680)ctG>ctA	p.L560L	ARHGAP32_ENST00000527272.1_Silent_p.L211L|ARHGAP32_ENST00000392657.3_Silent_p.L211L|ARHGAP32_ENST00000524655.1_Silent_p.L486L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	560	Rho-GAP.				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						CAACGTGATTCAGGATGAACT	0.512000													18	74					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90458311	90458311	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:90458311C>T	ENST00000335725.4	+	13	1667	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	TDP1_ENST00000393454.2_Silent_p.L473L|TDP1_ENST00000357382.3_Silent_p.L234L|TDP1_ENST00000393452.3_Silent_p.L473L|TDP1_ENST00000555880.1_Silent_p.L473L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	473					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACAGAATTGGCTGCATTCCTA	0.308000								Repair of DNA-protein crosslinks					13	78					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215632324	215632324	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:215632324T>C	ENST00000260947.4	-	6	1584	c.1450A>G	c.(1450-1452)Aag>Gag	p.K484E	BARD1_ENST00000449967.2_Missense_Mutation_p.K340E	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	484					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)		ACCAATGCCTTATGCTGGAGC	0.408000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	40					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103369742	103369742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:103369742G>T	ENST00000560371.1	+	10	1328	c.1111G>T	c.(1111-1113)Gcg>Tcg	p.A371S	TRAF3_ENST00000392745.2_Missense_Mutation_p.A371S|TRAF3_ENST00000347662.4_Missense_Mutation_p.A346S|TRAF3_ENST00000539721.1_Missense_Mutation_p.A288S|TRAF3_ENST00000351691.5_Missense_Mutation_p.A346S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	371					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			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)		GGACAAGAGCGCGGGGCAAGT	0.697000													9	51					1.12685e-05	1.36711e-05	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23812127	23812127	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:23812127T>A	ENST00000314520.3	+	1	1674	c.1198T>A	c.(1198-1200)Tgc>Agc	p.C400S	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Missense_Mutation_p.C160S	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	400						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)		CAACAAGGCCTGCAGGTATTT	0.517000													19	102					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222784	44222784	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:44222784C>G	ENST00000393812.3	-	4	1101	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E227Q|SLC35B2_ENST00000537814.1_Missense_Mutation_p.E187Q	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	320					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	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)			GCCCCCTGTTCTAGCAGTGAG	0.557000													5	32					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39376172	39376172	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39376172G>C	ENST00000545653.1	-	12	2641	c.2111C>G	c.(2110-2112)cCa>cGa	p.P704R	DAB2_ENST00000339788.6_Missense_Mutation_p.P507R|DAB2_ENST00000320816.6_Missense_Mutation_p.P725R|DAB2_ENST00000509337.1_Missense_Mutation_p.P704R	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	725	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)			TTTGGTAACTGGCAGGGAAAC	0.428000													5	70					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119331897	119331897	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:119331897C>A	ENST00000273371.4	+	5	668	c.596C>A	c.(595-597)gCc>gAc	p.A199D	PLA1A_ENST00000494440.1_Missense_Mutation_p.A183D|PLA1A_ENST00000488919.1_Missense_Mutation_p.A26D|PLA1A_ENST00000495992.1_Missense_Mutation_p.A183D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	199					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						TACACCAGGGCCAGTGTGGAA	0.582000													4	16					1.23904e-05	1.49648e-05	1	1	0
OR51B5	282763	broad.mit.edu	37	11	5364327	5364327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:5364327C>A	ENST00000300773.2	-	1	482	c.428G>T	c.(427-429)gGg>gTg	p.G143V	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G143E(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTCCCAGCCCAATCTTCAC	0.448000													6	73					3.59834e-05	4.23827e-05	1	1	0
TRGV4	6977	broad.mit.edu	37	7	38393495	38393495	+	RNA	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:38393495C>G	ENST00000390345.2	-	0	508																											GGGGCCTTCCCCTCCTGGTGT	0.512000													24	73					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15498141	15498141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:15498141C>T	ENST00000455584.2	-	16	2741	c.2698G>A	c.(2698-2700)Gga>Aga	p.G900R	CDRT1_ENST00000354433.3_Missense_Mutation_p.G90R|CDRT1_ENST00000395906.3_Missense_Mutation_p.G590R|CDRT1_ENST00000583965.1_Intron																							TCAGTGCTTCCTGAGAGGAGA	0.557000													5	46					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11729026	11729026	+	Silent	SNP	C	C	A	rs149895684		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:11729026C>A	ENST00000381486.2	+	10	1614	c.1314C>A	c.(1312-1314)ctC>ctA	p.L438L	GREB1_ENST00000381483.2_Silent_p.L438L|GREB1_ENST00000234142.5_Silent_p.L438L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	438						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)		AGATGCAGCTCCTGCTTACCG	0.627000													7	81					0.248553	0.249789	1	1	0
FBXO4	26272	broad.mit.edu	37	5	41934243	41934243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:41934243G>A	ENST00000296812.2	+	5	787	c.731G>A	c.(730-732)aGa>aAa	p.R244K	FBXO4_ENST00000281623.3_Missense_Mutation_p.R244K|FBXO4_ENST00000509134.1_Missense_Mutation_p.R244K	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	244					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGAAAGGAAAGAGATAGAGCA	0.383000													4	44					0	0	1	0	0
TEX37	200523	broad.mit.edu	37	2	88828934	88828934	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:88828934A>G	ENST00000303254.3	+	4	627	c.485A>G	c.(484-486)cAt>cGt	p.H162R		NM_152670.2	NP_689883.1			testis expressed 37																		CTTCATTGCCATATAGTCAAG	0.527000													8	60					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65054572	65054572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:65054572G>A	ENST00000380985.5	+	2	398	c.220G>A	c.(220-222)Gct>Act	p.A74T	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	74					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GGTGTACGATGCTGTTGGAAT	0.443000													7	117					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15295128	15295128	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:15295128C>A	ENST00000263388.2	-	16	2619	c.2544G>T	c.(2542-2544)caG>caT	p.Q848H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	848					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)			CATTGATGTCCTGATCGCAGG	0.597000													10	32					4.68919e-08	6.23169e-08	1	1	0
SSPO	23145	broad.mit.edu	37	7	149482270	149482270	+	RNA	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:149482270T>C	ENST00000378016.2	+	0	2944							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)			CAGTGGGCAGTGGTACCTGCC	0.632000													19	96					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135977032	135977032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:135977032G>A	ENST00000393160.3	-	16	2517	c.2164C>T	c.(2164-2166)Cgc>Tgc	p.R722C	RALGDS_ENST00000542690.1_Missense_Mutation_p.R848C|RALGDS_ENST00000372047.3_Missense_Mutation_p.R765C|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.R777C|RALGDS_ENST00000372062.3_Missense_Mutation_p.R748C|RALGDS_ENST00000393157.3_Missense_Mutation_p.R776C	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	777					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)		GAGACAGAGCGCTTGTGGGTG	0.652000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								15	76					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52972134	52972134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:52972134G>T	ENST00000349258.4	-	3	798	c.254C>A	c.(253-255)aCa>aAa	p.T85K	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T85K	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	85						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AAACTTTAGTGTTCCCTGGGA	0.498000													5	82					0.000602214	0.000673014	1	1	0
OR4K5	79317	broad.mit.edu	37	14	20389120	20389120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20389120G>A	ENST00000315915.4	+	1	380	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	119					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)		TGTTTCGATGGCCTATGACAG	0.458000													18	342					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873016	55873016	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55873016G>T	ENST00000313503.1	+	1	498	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L166F(2)		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)					TGAGCAGATTGCATTTCTACG	0.423000										HNSCC(53;0.14)			39	151					1.04594e-18	1.61591e-18	1	1	0
OR2T11	127077	broad.mit.edu	37	1	248790290	248790290	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248790290T>A	ENST00000330803.2	-	1	201	c.140A>T	c.(139-141)cAg>cTg	p.Q47L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	47					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)			AGAGTCCACCTGAATCAAGAA	0.498000													7	118					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22249073	22249073	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:22249073G>A	ENST00000324559.8	+	7	906	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	197						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						ACATCGGCAGGAGCTCTTCCT	0.453000													9	100					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005293	1005293	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:1005293A>G	ENST00000537687.1	+	24	7063	c.6420A>G	c.(6418-6420)gcA>gcG	p.A2140A	WNK1_ENST00000535572.1_Silent_p.A1632A|WNK1_ENST00000530271.2_Silent_p.A2378A|WNK1_ENST00000315939.6_Silent_p.A1880A|WNK1_ENST00000340908.4_Silent_p.A1473A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1880					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)			CAGAAGATGCAAAGTCTGTTC	0.413000													6	64					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129316	248129316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248129316C>T	ENST00000366480.3	+	1	782	c.683C>T	c.(682-684)gCc>gTc	p.A228V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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;0.0152)			CCATTCCTAGCCATTCTGGCT	0.463000													19	58					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70209175	70209175	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:70209175G>C	ENST00000550536.1	+	11	1837	c.1380G>C	c.(1378-1380)ttG>ttC	p.L460F	RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000247833.7_Missense_Mutation_p.L444F|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000551641.1_Missense_Mutation_p.L238F|RAB3IP_ENST00000553099.1_Missense_Mutation_p.L238F|RAB3IP_ENST00000325555.9_Missense_Mutation_p.L238F|RAB3IP_ENST00000550847.1_Missense_Mutation_p.L151F|RAB3IP_ENST00000483530.2_3'UTR	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	460					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)			TTATGCAGTTGAGAAAAGAGA	0.378000													7	76					0	0	1	0	0
UXT	8409	broad.mit.edu	37	X	47518279	47518279	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:47518279T>C	ENST00000335890.2	-	1	237	c.84A>G	c.(82-84)aaA>aaG	p.K28K	RP1-212G6.7_ENST00000591832.1_RNA|RP1-212G6.7_ENST00000590504.1_RNA|UXT_ENST00000333119.3_Silent_p.K16K	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	16					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AGCGCAGCACTTTCTCCCCCG	0.652000													5	10					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219900384	219900384	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:219900384G>A	ENST00000341552.5	-	5	443	c.360C>T	c.(358-360)ccC>ccT	p.P120P	CCDC108_ENST00000295729.2_Silent_p.P55P|CCDC108_ENST00000453220.1_Silent_p.P120P|CCDC108_ENST00000409865.3_Silent_p.P109P|CCDC108_ENST00000441968.1_Silent_p.P120P|CCDC108_ENST00000324264.6_Silent_p.P55P|CCDC108_ENST00000410037.1_Silent_p.P55P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	120						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)		TGGAGCTTGCGGGCTGTTCAG	0.567000													13	53					0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159894304	159894304	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:159894304C>A	ENST00000434826.2	-	2	308	c.224G>T	c.(223-225)aGt>aTt	p.S75I	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	75			S -> G (in dbSNP:rs662473).							large_intestine(2)|lung(3)	5						ACCAATTTCACTGACGTACTC	0.373000													3	17					0.115264	0.117444	1	1	0
CCDC171	203238	broad.mit.edu	37	9	15778999	15778999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:15778999G>T	ENST00000380701.3	+	20	3260	c.2932G>T	c.(2932-2934)Gga>Tga	p.G978*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.G978*	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	978																	GCAAATACTTGGATTTACACA	0.383000													11	36					7.03913e-09	9.65639e-09	1	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070625	32070625	+	RNA	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:32070625A>G	ENST00000566806.1	-	0	499																											GCTTCTGGATACACCTTCACC	0.532000													6	20					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124845049	124845049	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:124845049A>T	ENST00000529051.1	+	5	833	c.574A>T	c.(574-576)Aaa>Taa	p.K192*	CCDC15_ENST00000344762.5_Nonsense_Mutation_p.K192*			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	192						centrosome		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	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;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373000													3	17					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394892	154394892	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:154394892G>A	ENST00000435029.4	+	1	1633	c.1473G>A	c.(1471-1473)gcG>gcA	p.A491A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	491					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			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)			TTGATACTGCGGTAGAAGAAG	0.443000													12	91					0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52338810	52338810	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:52338810T>C	ENST00000261845.5	+	2	960	c.153T>C	c.(151-153)atT>atC	p.I51I		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	51	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TCAAGAAAATTGTCCTTACTG	0.383000													19	112					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541650	96541650	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:96541650T>C	ENST00000371321.3	+	5	797	c.715T>C	c.(715-717)Ttt>Ctt	p.F239L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	239					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAACCTTGCTTTTATGGAAAG	0.318000													8	46					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148482	34148482	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:34148482G>T	ENST00000346193.3	-	1	1965	c.1914C>A	c.(1912-1914)acC>acA	p.T638T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	638										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						GGTCCTCATGGGTTGCTCTGT	0.453000													6	33					3.59834e-05	4.23827e-05	1	1	0
PLXNC1	10154	broad.mit.edu	37	12	94653490	94653490	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:94653490G>T	ENST00000258526.4	+	19	3480	c.3231G>T	c.(3229-3231)aaG>aaT	p.K1077N	PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K124N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1077					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						AAAAGCAGAAGAACTTTTCTG	0.418000													17	66					2.94398e-08	3.94484e-08	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13922416	13922416	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:13922416C>G	ENST00000265104.4	-	5	564	c.460G>C	c.(460-462)Gat>Cat	p.D154H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	154	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)					TCTGCCGCATCTAACATGTTA	0.463000									Kartagener syndrome				8	36					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152823749	152823749	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:152823749C>G	ENST00000370186.1	+	15	2897	c.2571C>G	c.(2569-2571)gcC>gcG	p.A857A	ATP2B3_ENST00000370181.2_Silent_p.A857A|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000359149.3_Silent_p.A871A|ATP2B3_ENST00000263519.4_Silent_p.A871A|ATP2B3_ENST00000349466.2_Silent_p.A871A|ATP2B3_ENST00000393842.1_Silent_p.A857A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	871					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)					TCACAGGTGCCTGCATTACTC	0.557000													6	38					0	0	1	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709067	38709067	+	RNA	SNP	A	A	G	rs113173138		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709067A>G	ENST00000417039.1	-	0	696																											ATGATTATCCAAAATGTTTCA	0.537000													9	40					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88383887	88383887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:88383887C>T	ENST00000419482.2	+	2	275	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	SMYD1_ENST00000444564.2_Missense_Mutation_p.R64C|SMYD1_ENST00000438570.1_Missense_Mutation_p.R64C|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	64					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						GAAGCTCCATCGCTGTGGGCA	0.507000													11	63					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10488920	10488920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:10488920C>A	ENST00000525621.1	-	3	644	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	TYK2_ENST00000264818.6_Nonsense_Mutation_p.E55*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E55*|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	55	FERM.				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)			ATGCAGACTTCCTCAGCTGTC	0.617000													9	46					2.17888e-05	2.58902e-05	1	1	0
OR4F4	26682	broad.mit.edu	37	15	102462372	102462372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:102462372C>T	ENST00000326183.3	-	1	926	c.891G>A	c.(889-891)tgG>tgA	p.W297*		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	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)			AATGTGCATCCCATTTTCTCA	0.338000													24	457					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32595908	32595908	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:32595908C>G	ENST00000286827.3	-	9	2281		c.e9-1		TIAM1_ENST00000541036.1_Splice_Site|TIAM1_ENST00000469412.1_Splice_Site	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						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			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						AGACAAAGATCTATGGTAGTG	0.418000													12	39					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325765	79325765	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:79325765C>A	ENST00000428286.1	-	8	1548	c.348G>T	c.(346-348)ggG>ggT	p.G116G	PRUNE2_ENST00000376718.3_Silent_p.G475G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	475					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCGCCACCGCCCCTTCAGGGA	0.597000													8	27					5.18039e-06	6.40024e-06	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904773	144904773	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:144904773A>T	ENST00000370490.1	+	1	5085	c.830A>T	c.(829-831)cAt>cTt	p.H277L	SLITRK2_ENST00000413937.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.H277L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.H277L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	277						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCAGCCATGCTGACACC	0.557000													15	74					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	111000960	111000960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:111000960G>A	ENST00000394780.3	+	26	3130	c.3118G>A	c.(3118-3120)Gat>Aat	p.D1040N	ALG13_ENST00000251943.4_Missense_Mutation_p.D857N|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1040					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						GAGGAGAGAAGATGGCATACA	0.433000													6	35					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725738	30725738	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:30725738A>G	ENST00000361762.2	+	1	3702	c.2694A>G	c.(2692-2694)gtA>gtG	p.V898V	PCDH7_ENST00000543491.1_Silent_p.V898V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	898					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						TCTTAATTGTAGTGATGGCAA	0.408000													13	61					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913830	160913830	+	RNA	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:160913830T>A	ENST00000335388.5	-	0	490					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GAATGAATCCTCTAGGCTTGG	0.498000													15	105					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20109935	20109935	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:20109935T>G	ENST00000541730.1	-	11	1403	c.808A>C	c.(808-810)Aag>Cag	p.K270Q	MBOAT1_ENST00000324607.7_Missense_Mutation_p.K419Q			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	419					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TACACAGCCTTGAGAGCTCTT	0.502000													17	73					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308798	248308798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248308798G>C	ENST00000366476.1	+	1	349	c.349G>C	c.(349-351)Gtt>Ctt	p.V117L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	117					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)			TCTGTTGGCTGTTATGTCTTA	0.438000													21	498					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47182395	47182395	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:47182395A>G	ENST00000447411.1	-	3	332	c.126T>C	c.(124-126)ttT>ttC	p.F42F	SLC38A4_ENST00000266579.4_Silent_p.F42F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	42					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTCATTAGCAAATTGACTGA	0.348000													9	82					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64597448	64597448	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64597448G>A	ENST00000342711.5	-	30	3461	c.3462C>T	c.(3460-3462)agC>agT	p.S1154S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1154	CNH.				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						AGAGACGCACGCTGGGGCCGC	0.662000													5	61					0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8278194	8278194	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:8278194C>T	ENST00000229332.5	+	2	367	c.120C>T	c.(118-120)acC>acT	p.T40T	CLEC4A_ENST00000352620.3_Silent_p.T40T|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	40					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)		AAAGTAATACCGGATTCCCCA	0.403000													31	42					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053533	114053533	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:114053533T>C	ENST00000369422.3	+	5	521	c.521T>C	c.(520-522)gTc>gCc	p.V174A		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	174	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCTCCCTTTGTCCTGGAGGCA	0.433000													5	41					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	19					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89474698	89474698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89474698C>T	ENST00000370481.4	-	10	1811	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	531						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCCATCTTCTCAGTCAATTGT	0.428000													5	64					0	0	1	0	0
DBI	1622	broad.mit.edu	37	2	120125881	120125881	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:120125881G>A	ENST00000542275.1	+	2	394	c.310_splice	c.e2+1	p.E104_splice	DBI_ENST00000393103.2_Splice_Site_p.E44_splice|DBI_ENST00000535757.1_Splice_Site_p.E60_splice|DBI_ENST00000311521.4_Splice_Site_p.E60_splice|DBI_ENST00000409094.1_Splice_Site_p.E60_splice|DBI_ENST00000535617.1_Splice_Site_p.E85_splice|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000355857.3_Splice_Site_p.E43_splice	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	43					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						CATAAATACAGGTATGCAGAG	0.527000													5	79					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522187	97522187	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:97522187G>T	ENST00000375315.2	+	1	122	c.122G>T	c.(121-123)gGg>gTg	p.G41V	C9orf3_ENST00000277198.2_Missense_Mutation_p.G41V|C9orf3_ENST00000297979.5_Missense_Mutation_p.G41V	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	41					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)		GTCATTGAGGGGACCATAGTG	0.443000													15	72					2.61681e-11	3.79603e-11	1	1	0
KATNAL1	84056	broad.mit.edu	37	13	30854276	30854276	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:30854276C>A	ENST00000380615.3	-	3	414	c.247G>T	c.(247-249)Gat>Tat	p.D83Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D83Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	83						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)		ACAGGGAAATCTGGAGGCTTG	0.373000													7	20					0.00198382	0.00216905	1	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156933337	156933337	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:156933337T>C	ENST00000368194.3	-	12	2052	c.1013A>G	c.(1012-1014)tAt>tGt	p.Y338C	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.Y298C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	298	RGSL.				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)					ACCCGGGTCATAGTCTTCCTC	0.428000													9	83					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54006650	54006650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:54006650G>A	ENST00000396328.1	-	6	811	c.572C>T	c.(571-573)tCa>tTa	p.S191L	WDR72_ENST00000557913.1_Missense_Mutation_p.S190L|WDR72_ENST00000559418.1_Missense_Mutation_p.S191L|WDR72_ENST00000360509.5_Missense_Mutation_p.S191L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	191										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)		GTTGATAGATGAGGAAAGATC	0.338000													6	44					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158224881	158224881	+	Missense_Mutation	SNP	G	G	C	rs3087217		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158224881G>C	ENST00000289429.5	+	2	599	c.66G>C	c.(64-66)aaG>aaC	p.K22N		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	22			K -> N (in dbSNP:rs3087217).		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)	CAGGGCTCAAGGAGCCTCTCT	0.478000													12	88					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993495	76993495	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:76993495G>A	ENST00000302345.2	-	2	704	c.210C>T	c.(208-210)ccC>ccT	p.P70P	CANT1_ENST00000591773.1_Silent_p.P70P|CANT1_ENST00000392446.5_Silent_p.P70P	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	70					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)			CATTGTGGGTGGGGGGCCTGC	0.672000			T	ETV4	prostate								29	88					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95843345	95843345	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:95843345G>T	ENST00000398107.2	+	2	547	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L	ZNF2_ENST00000295210.6_Missense_Mutation_p.V51L|ZNF2_ENST00000453539.2_Missense_Mutation_p.V51L|ZNF2_ENST00000340539.5_Missense_Mutation_p.V51L|ZNF2_ENST00000425369.1_Missense_Mutation_p.V9L	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	51				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)		TAACAGCATTGTGTCATTGGG	0.517000													21	99					1.50039e-11	2.18435e-11	1	1	0
TCF20	6942	broad.mit.edu	37	22	42607617	42607617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:42607617G>A	ENST00000359486.3	-	1	3831	c.3695C>T	c.(3694-3696)cCt>cTt	p.P1232L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1232L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1232					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						AACACTACCAGGTTTGGATGA	0.498000													9	79					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432892	104432892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:104432892C>T	ENST00000361820.3	-	3	2402	c.1802G>A	c.(1801-1803)gGg>gAg	p.G601E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	601					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)	CTTTCCATCCCCTACAATATA	0.463000													7	58					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676787	33676787	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:33676787C>T	ENST00000532280.1	-	0	710					NR_023917.1																						GGCTCTGGACCGCAGCCGGGT	0.662000													7	12					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45361915	45361915	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45361915C>T	ENST00000560629.1	+	4	433	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	ITGB3_ENST00000559488.1_Silent_p.S156S|ITGB3_ENST00000571680.1_Silent_p.S156S|ITGB3_ENST00000435993.2_Silent_p.S109S			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.		D -> N (in GT).|D -> Y (in GT; type B).		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)	ATCTGTGGAGCATCCAGAACC	0.527000													13	108					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160162614	160162614	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:160162614A>T	ENST00000368079.3	+	2	559	c.284A>T	c.(283-285)gAc>gTc	p.D95V	CASQ1_ENST00000368078.3_Missense_Mutation_p.D101V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	101						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)			GTCCTAGAAGACAAGGGTGTT	0.493000											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	169					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74972149	74972149	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:74972149C>A	ENST00000262144.6	-	8	680	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	184										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGATATTCCACTGCTGTACTG	0.463000													20	88					7.41877e-09	1.01428e-08	1	1	0
ST7	7982	broad.mit.edu	37	7	116593615	116593615	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:116593615C>G	ENST00000265437.5	+	1	235	c.21C>G	c.(19-21)ggC>ggG	p.G7G	ST7_ENST00000393451.3_Silent_p.G7G|ST7_ENST00000323984.3_Silent_p.G7G|ST7-AS1_ENST00000456775.1_RNA|ST7_ENST00000393449.1_Silent_p.G7G|ST7_ENST00000393446.2_Silent_p.G7G	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	7						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)		CGGCCACGGGCTTTCTGGAGC	0.612000													6	58					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231280994	231280994	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:231280994A>T	ENST00000264052.5	+	0	338				SP100_ENST00000340126.4_De_novo_Start_InFrame|SP100_ENST00000409824.1_De_novo_Start_InFrame|SP100_ENST00000409112.1_De_novo_Start_InFrame|SP100_ENST00000427101.2_De_novo_Start_InFrame|SP100_ENST00000341950.4_De_novo_Start_InFrame|SP100_ENST00000409341.1_De_novo_Start_InFrame	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen						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)		AGGCCCACGCAGGGCCTAGGG	0.627000													8	23					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7702036	7702036	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7702036G>T	ENST00000572933.1	+	55	10019	c.8559_splice	c.e55+1	p.E2853_splice	DNAH2_ENST00000389173.2_Splice_Site_p.E2853_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2853	AAA 4 (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)				AATTTGAAGAGGTAGGATTCC	0.532000													8	70					0.000274275	0.000311256	1	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26032207	26032207	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:26032207T>C	ENST00000244661.2	-	1	81	c.82A>G	c.(82-84)Aag>Gag	p.K28E		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	28					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GGCGCGCTCTTGCGAGCAGCC	0.612000													30	172					0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132874321	132874321	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:132874321G>A	ENST00000275200.1	+	1	490	c.490G>A	c.(490-492)Ggt>Agt	p.G164S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	164						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CACGTACAGCGGTGCTGTGTT	0.493000													32	227					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101063362	101063362	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:101063362C>A	ENST00000313669.7	+	0	455				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		TGGCCGGGGCCCTGCGCCAAC	0.647000													12	41					0.0202918	0.0212106	1	1	0
FGF14	2259	broad.mit.edu	37	13	103053968	103053968	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:103053968T>C	ENST00000376131.4	-	1	156	c.61A>G	c.(61-63)Aag>Gag	p.K21E	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGATCCTTGTGGTTGCAT	0.403000													14	43					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660576	46660576	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46660576G>A	ENST00000544460.1	+	1	4965	c.4711G>A	c.(4711-4713)Gga>Aga	p.G1571R	TDRD6_ENST00000316081.6_Missense_Mutation_p.G1571R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1571	Tudor 7.				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)			TCCTTATATTGGAGATCCTTG	0.383000													17	123					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974743	44974743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:44974743G>T	ENST00000340446.4	-	1	1739	c.1448C>A	c.(1447-1449)cCt>cAt	p.P483H		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	483	Ala-rich.					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)		TTCATCTGCAGGAGGCTCCGT	0.502000													6	40					0.00116845	0.00129152	1	1	0
RLBP1	6017	broad.mit.edu	37	15	89760507	89760507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:89760507G>A	ENST00000268125.5	-	5	629	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	64					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TGCAGCTCTCGCACTGCCTCC	0.642000													18	87					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065731	35065731	+	Silent	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:35065731A>T	ENST00000382002.5	-	10	1755	c.1329T>A	c.(1327-1329)ccT>ccA	p.P443P	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Silent_p.P342P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.P342P	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	443					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)	GTGCACCTGCAGGGCCCACAG	0.498000													30	134					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233334708	233334708	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:233334708C>G	ENST00000258229.8	-	15	3277	c.3043G>C	c.(3043-3045)Gca>Cca	p.A1015P	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A148P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1015						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)				AAGCAGACTGCGTGGAGCAGG	0.468000													3	12					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14502569	14502569	+	Silent	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:14502569T>G	ENST00000249923.3	-	9	1332	c.1032A>C	c.(1030-1032)gcA>gcC	p.A344A	COPB1_ENST00000439561.2_Silent_p.A344A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	344					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						CAAGATCCAGTGCTAACTGCA	0.363000													7	105					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20599920	20599920	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20599920G>C	ENST00000504154.1	+	33	3846	c.3594G>C	c.(3592-3594)ctG>ctC	p.L1198L	SLIT2_ENST00000273739.5_Silent_p.L1211L|SLIT2_ENST00000503837.1_Silent_p.L1194L|SLIT2_ENST00000503823.1_Silent_p.L1190L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1198	Laminin G-like.				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						GAATCCTCCTGTATAAGGGTG	0.483000													6	107					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282338	28282338	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:28282338C>G	ENST00000373894.3	+	6	1025	c.834C>G	c.(832-834)caC>caG	p.H278Q	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.H278Q|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.H230Q|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	278					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TCGGGCACCACCACACCGACA	0.562000													6	53					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007220	131007220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:131007220C>A	ENST00000307968.7	-	13	2832	c.2833G>T	c.(2833-2835)Gag>Tag	p.E945*	FNIP1_ENST00000307954.8_Nonsense_Mutation_p.E928*|FNIP1_ENST00000510461.1_Nonsense_Mutation_p.E973*|FNIP1_ENST00000514667.1_Intron	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)		ATCTCATCCTCTTCTGCCCAA	0.403000													10	95					3.86212e-05	4.52916e-05	1	1	0
KIFC1	3833	broad.mit.edu	37	6	33371793	33371793	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:33371793G>C	ENST00000428849.2	+	6	1093	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	215					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						TTGTGTCCTGGAGCTGGAAGA	0.577000													9	115					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58639352	58639352	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:58639352T>A	ENST00000598312.1	-	4	1752	c.1519A>T	c.(1519-1521)Agg>Tgg	p.R507W	ZNF329_ENST00000358067.4_Missense_Mutation_p.R507W	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	507					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)		GGACCCTCCCTGCTATGGAGT	0.512000													15	184					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6990518	6990518	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:6990518G>T	ENST00000381309.3	+	12	2345	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	KDM4C_ENST00000381306.3_Missense_Mutation_p.D594Y|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.D616Y|KDM4C_ENST00000543771.1_Missense_Mutation_p.D594Y|KDM4C_ENST00000536108.1_Missense_Mutation_p.D413Y|KDM4C_ENST00000428870.2_Missense_Mutation_p.D281Y	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	594					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						GGCGCCAAGTGATGAAGGTGA	0.403000													10	24					7.48243e-07	9.52095e-07	1	1	0
NEB	4703	broad.mit.edu	37	2	152432252	152432252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:152432252G>A	ENST00000397345.3	-	107	17172	c.16970C>T	c.(16969-16971)cCa>cTa	p.P5657L	NEB_ENST00000604864.1_Missense_Mutation_p.P5657L|NEB_ENST00000172853.10_Missense_Mutation_p.P3956L|NEB_ENST00000427231.2_Missense_Mutation_p.P5657L|NEB_ENST00000409198.1_Missense_Mutation_p.P3956L|NEB_ENST00000603639.1_Missense_Mutation_p.P5657L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5672					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)		ATTAATTTCTGGAGTATCTGG	0.358000													34	173					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890519	55890519	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55890519C>A	ENST00000313472.3	+	1	671	c.671C>A	c.(670-672)aCc>aAc	p.T224N		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTCTCTCTACCATCCTGAAA	0.413000													13	142					4.14922e-12	6.07349e-12	1	1	0
LRRTM3	347731	broad.mit.edu	37	10	68686993	68686993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:68686993G>T	ENST00000361320.4	+	2	897	c.319G>T	c.(319-321)Gga>Tga	p.G107*	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	107						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGCTTTTAATGGAATACGCAG	0.358000													13	114					2.68362e-12	3.94248e-12	1	1	0
CHD4	1108	broad.mit.edu	37	12	6709540	6709540	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:6709540A>T	ENST00000309577.6	-	9	1248	c.1085T>A	c.(1084-1086)gTg>gAg	p.V362E	CHD4_ENST00000544484.1_Missense_Mutation_p.V359E|CHD4_ENST00000544040.1_Missense_Mutation_p.V355E|CHD4_ENST00000357008.2_Missense_Mutation_p.V362E			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	362					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						ATAACCATCCACAGCAGTCAC	0.562000													12	90					0	0	1	0	0
S100A16	140576	broad.mit.edu	37	1	153580603	153580603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:153580603C>T	ENST00000368704.1	-	2	210	c.25G>A	c.(25-27)Gag>Aag	p.E9K	S100A16_ENST00000368703.2_Missense_Mutation_p.E9K|S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368705.2_Missense_Mutation_p.E9K|S100A16_ENST00000368706.4_Missense_Mutation_p.E9K			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	9						cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	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)			ACTGCCTTCTCCAGCTCCGTG	0.547000													6	58					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2321975	2321975	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:2321975C>G	ENST00000290974.2	-	7	1064	c.725G>C	c.(724-726)gGa>gCa	p.G242A	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G172A|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G212A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	242					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.G242E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTTCAGAGGTCCGTCCGCATA	0.602000													4	47					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812914	2812914	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2812914G>T	ENST00000301740.8	+	11	2934	c.2385G>T	c.(2383-2385)agG>agT	p.R795S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	795	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						CACCACCCAGGCGCAGTCGCT	0.522000													24	319					9.57634e-11	1.37927e-10	1	1	0
IGSF5	150084	broad.mit.edu	37	21	41165460	41165460	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:41165460G>A	ENST00000380588.4	+	8	1151		c.e8-1			NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5							integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTCTGTTGCAGACACCGCTTC	0.413000													14	67					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635788	83635788	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:83635788C>G	ENST00000404547.1	+	1	692	c.692C>G	c.(691-693)aCc>aGc	p.T231S	NRG3_ENST00000372141.2_Missense_Mutation_p.T231S			P56975	NRG3_HUMAN	neuregulin 3	231	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCATACGCTACCTCCTCCTAC	0.612000													3	22					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74648348	74648348	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:74648348C>A	ENST00000354431.4	-	3	638	c.447G>T	c.(445-447)tgG>tgT	p.W149C	LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.W149C|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.W149C	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	149	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTGAGAGGCCATATACTGT	0.388000													6	77					0.217242	0.218867	1	1	0
REC8	9985	broad.mit.edu	37	14	24642506	24642506	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:24642506C>T	ENST00000311457.3	+	6	947	c.348C>T	c.(346-348)agC>agT	p.S116S	REC8_ENST00000559919.1_Silent_p.S116S			O95072	REC8_HUMAN	REC8 meiotic recombination protein	116					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)		CCAGACCCAGCCTGCTGCTTC	0.557000													74	100					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108652357	108652357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:108652357C>T	ENST00000218006.2	-	9	2123	c.1832G>A	c.(1831-1833)gGt>gAt	p.G611D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	611	Protein kinase.				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						ATAGAAGAAACCCAATAAAGG	0.443000													22	45					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20525726	20525726	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20525726C>A	ENST00000504154.1	+	14	1616	c.1364C>A	c.(1363-1365)gCc>gAc	p.A455D	SLIT2_ENST00000273739.5_Missense_Mutation_p.A459D|SLIT2_ENST00000503837.1_Missense_Mutation_p.A459D|SLIT2_ENST00000503823.1_Missense_Mutation_p.A455D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	455	LRRCT 2.				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						ACCAGTGGTGCCCGTTGCACC	0.488000													13	134					1.5842e-08	2.14052e-08	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33658365	33658365	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:33658365G>T	ENST00000504830.1	-	7	1449	c.1114C>A	c.(1114-1116)Cct>Act	p.P372T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P372T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	372	Peptidase M12B.				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						CTGCGGTGAGGCTGACACATT	0.507000										HNSCC(64;0.19)			20	138					1.01871e-10	1.45943e-10	1	1	0
RXFP2	122042	broad.mit.edu	37	13	32376514	32376514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:32376514G>A	ENST00000298386.2	+	18	2308	c.2237G>A	c.(2236-2238)gGa>gAa	p.G746E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G722E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	746						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)		ATAACACTTGGAGACAGTATA	0.368000													49	167					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386085	50386085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50386085G>A	ENST00000221543.5	+	8	1162	c.863G>A	c.(862-864)cGc>cAc	p.R288H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R255H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	288						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)		GAGTGGGCACGCCACGTGGGC	0.667000													4	41					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675534	100675534	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:100675534A>C	ENST00000306151.4	+	3	901	c.837A>C	c.(835-837)agA>agC	p.R279S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	279	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)					CATTAACAAGAATGCCTCTCA	0.507000													19	215					0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133044184	133044184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:133044184C>A	ENST00000207771.3	-	8	1456	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y	VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000509351.1_3'UTR					vanin 3											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)		AAGCGTCCATCTCTTGAAATC	0.502000													3	18					0.115264	0.117444	1	1	0
C11orf74	119710	broad.mit.edu	37	11	36680588	36680588	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:36680588A>T	ENST00000334307.5	+	6	633	c.518A>T	c.(517-519)cAa>cTa	p.Q173L	C11orf74_ENST00000347206.4_Missense_Mutation_p.Q99L|C11orf74_ENST00000534635.1_Missense_Mutation_p.Q99L|C11orf74_ENST00000446510.2_Intron	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	173										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GATGAAGTTCAACTTTTTTCA	0.323000													5	24					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339085	16339085	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:16339085C>A	ENST00000400202.1	-	3	2141	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	NRIP1_ENST00000400199.1_Missense_Mutation_p.D477Y|NRIP1_ENST00000318948.4_Missense_Mutation_p.D477Y			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	477	Repression domain 2.				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)		ATATCTACATCTGGGACTTTT	0.388000													30	93					1.80694e-10	2.57952e-10	1	1	0
PSMA1	5682	broad.mit.edu	37	11	14539270	14539270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:14539270C>A	ENST00000530457.1	-	4	627	c.97G>T	c.(97-99)Gct>Tct	p.A33S	PSMA1_ENST00000555531.1_Missense_Mutation_p.A58S|PSMA1_ENST00000418988.2_Missense_Mutation_p.A64S|PSMA1_ENST00000396394.2_Missense_Mutation_p.A58S|PSMA1_ENST00000396393.1_Missense_Mutation_p.A58S|PSMA1_ENST00000419365.2_Missense_Mutation_p.A58S			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	58					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						TTCTGATGAGCTGCAAGCTCT	0.323000													4	50					0.00024832	0.000283794	1	1	0
CEP97	79598	broad.mit.edu	37	3	101446256	101446256	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:101446256G>T	ENST00000341893.3	+	3	968	c.216G>T	c.(214-216)cgG>cgT	p.R72R	CEP97_ENST00000327230.4_Silent_p.R72R|CEP97_ENST00000494050.1_Silent_p.R72R			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	72						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						GGCTGGTTCGGATGATGGGTG	0.348000													7	127					5.18039e-06	6.40024e-06	1	1	0
FRY	10129	broad.mit.edu	37	13	32786436	32786436	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:32786436C>T	ENST00000380250.3	+	35	5095	c.4599C>T	c.(4597-4599)acC>acT	p.T1533T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1533					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)		CAGGAACCACCTCTAGCAGCA	0.418000													3	16					0	0	1	0	0
ASB18	401036	broad.mit.edu	37	2	237150053	237150053	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:237150053C>A	ENST00000330842.6	-	1	205	c.111G>T	c.(109-111)ctG>ctT	p.L37L	ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	66					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		CCCCTGCGACCAGGGCAGTGT	0.532000													8	51					1.26484e-09	1.77122e-09	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072475	34072475	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:34072475G>T	ENST00000254466.6	-	6	2068	c.2041C>A	c.(2041-2043)Cct>Act	p.P681T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P665T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	681					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)		GCTGGCTTAGGGGAGCCAGTC	0.607000													20	205					1.33834e-09	1.87089e-09	1	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253745	32253745	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:32253745A>C	ENST00000332378.4	-	1	129	c.99T>G	c.(97-99)gaT>gaG	p.D33E		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	33						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGCAGTCAGCATCAGTGGTGG	0.562000													12	81					0	0	1	0	0
IGLV3-32	28787	broad.mit.edu	37	22	22937305	22937305	+	RNA	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:22937305G>C	ENST00000390303.2	+	0	162																											TCACCTGCCAGGGAGACAGCA	0.582000											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	69					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108067951	108067951	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:108067951G>C	ENST00000369022.2	-	3	464	c.255C>G	c.(253-255)caC>caG	p.H85Q	SCML4_ENST00000369021.3_Missense_Mutation_p.H114Q|SCML4_ENST00000369020.3_Missense_Mutation_p.H143Q			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	143					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)		GCTTCTGCTGGTGGGCGCAGT	0.627000													10	85					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79763573	79763573	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:79763573A>G	ENST00000335016.5	+	4	604	c.438A>G	c.(436-438)ctA>ctG	p.L146L	BMP2K_ENST00000502871.1_Silent_p.L146L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	146	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATAAGAAGCTACAGACGGGTT	0.358000													5	41					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113245866	113245866	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:113245866C>T	ENST00000401783.2	-	10	2374	c.2038_splice	c.e10+1	p.G680_splice	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Splice_Site_p.G680_splice|SVEP1_ENST00000374461.1_Splice_Site_p.G657_splice|SVEP1_ENST00000374469.1_Splice_Site_p.G657_splice	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	680	HYR 2.				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						GTCACCTCACCTGAGTTGTCT	0.433000													5	20					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6416879	6416879	+	Silent	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:6416879A>C	ENST00000398148.3	-	13	1289	c.1197T>G	c.(1195-1197)ggT>ggG	p.G399G		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	399	Gly-rich.				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						CCCCTGGAGGACCTGGGGGAC	0.667000													8	34					0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25076387	25076387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:25076387C>T	ENST00000216338.4	-	4	609	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	189	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TTTGGATCCCCCACACAAATC	0.522000													14	287					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770278	53770278	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:53770278T>A	ENST00000311170.4	-	1	694	c.641A>T	c.(640-642)cAg>cTg	p.Q214L		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	214					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ATCAATGTGCTGGACCCGCTG	0.532000										HNSCC(26;0.072)			8	21					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169391364	169391364	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:169391364T>A	ENST00000545005.1	-	4	812	c.305A>T	c.(304-306)aAc>aTc	p.N102I	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.N102I|CCDC181_ENST00000367806.3_Missense_Mutation_p.N102I					coiled-coil domain containing 181																		CTGGAAAGAGTTTTCACTATC	0.393000													8	57					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054205	64054205	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64054205C>A	ENST00000539851.1	+	2	676	c.209C>A	c.(208-210)gCc>gAc	p.A70D	GPR137_ENST00000377702.4_Missense_Mutation_p.A70D|GPR137_ENST00000438980.2_Missense_Mutation_p.A70D|GPR137_ENST00000313074.3_Missense_Mutation_p.A70D|GPR137_ENST00000411458.1_Missense_Mutation_p.A128D	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	70						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTGCTCTGGGCCGCCTTGCGT	0.612000													39	215					2.05212e-20	3.18256e-20	1	1	0
CDH12	1010	broad.mit.edu	37	5	21802442	21802442	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:21802442G>T	ENST00000382254.1	-	10	2176	c.1090C>A	c.(1090-1092)Cct>Act	p.P364T	CDH12_ENST00000504376.2_Missense_Mutation_p.P364T|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.P324T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	364	Cadherin 3.				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						TCTTTGAAAGGGCCCGCCGAG	0.498000										HNSCC(59;0.17)			7	47					0.0381472	0.0391651	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458275	248458275	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248458275C>T	ENST00000317996.1	-	1	605	c.606G>A	c.(604-606)gtG>gtA	p.V202V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GGAGCATTAACACACAGCAGA	0.542000													10	97					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224983	59224983	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:59224983G>T	ENST00000300127.2	+	1	573	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGCTCCAGGTGGTAAAACT	0.512000													18	135					9.16793e-09	1.24709e-08	1	1	0
TAF5L	27097	broad.mit.edu	37	1	229738406	229738406	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:229738406C>G	ENST00000366675.3	-	4	596	c.508G>C	c.(508-510)Gac>Cac	p.D170H	TAF5L_ENST00000366676.1_Missense_Mutation_p.D170H|TAF5L_ENST00000258281.2_Missense_Mutation_p.D170H	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	170					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)				TTGTAGCTGTCTTCTTGGAGA	0.468000													8	130					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11718489	11718489	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:11718489C>T	ENST00000381486.2	+	6	1004	c.704C>T	c.(703-705)aCg>aTg	p.T235M	GREB1_ENST00000381483.2_Missense_Mutation_p.T235M|GREB1_ENST00000263834.5_Missense_Mutation_p.T235M|GREB1_ENST00000389825.3_Missense_Mutation_p.T125M|GREB1_ENST00000234142.5_Missense_Mutation_p.T235M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	235						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)		CTGGAGAGCACGGCTGCCTTC	0.602000													12	100					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6329146	6329146	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:6329146G>A	ENST00000381129.3	-	6	869	c.789C>T	c.(787-789)atC>atT	p.I263I	AIPL1_ENST00000576776.1_Silent_p.I239I|AIPL1_ENST00000576307.1_Silent_p.I203I|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000574506.1_Silent_p.I251I|AIPL1_ENST00000250087.5_Silent_p.I200I|AIPL1_ENST00000570466.1_Silent_p.I241I	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	263					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGGCCTTCACGATGCCTGTGG	0.657000													9	16					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113299424	113299424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113299424C>T	ENST00000297405.5	-	58	9444	c.9200G>A	c.(9199-9201)aGa>aAa	p.R3067K	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3027K|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2898K|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2997K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3067	Sushi 22.					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						GCTTTCCTGTCTAGAGCCATG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	101					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740523	141740523	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:141740523G>C	ENST00000475668.2	+	21	2429	c.2373_splice	c.e21-1	p.G792_splice	MGAM_ENST00000549489.2_Splice_Site_p.G792_splice			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	792	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)	ATGCATCAGGGGAGCCAAGTG	0.473000													5	26					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170015866	170015866	+	Silent	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:170015866T>A	ENST00000367765.1	-	3	1687	c.186A>T	c.(184-186)tcA>tcT	p.S62S	KIFAP3_ENST00000367767.1_Silent_p.S58S|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000361580.2_Silent_p.S102S	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	102					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCCTGACAATGAATCACGGC	0.368000													24	79					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46661594	46661594	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:46661594C>A	ENST00000544460.1	+	1	5983	c.5729C>A	c.(5728-5730)cCt>cAt	p.P1910H	TDRD6_ENST00000316081.6_Missense_Mutation_p.P1910H	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1910					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)			CTAGAACTACCTACAGCCCAG	0.473000													10	79					1	1	1	1	0
SERBP1	26135	broad.mit.edu	37	1	67880878	67880878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:67880878G>A	ENST00000370994.4	-	7	1192	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	SERBP1_ENST00000361219.6_Missense_Mutation_p.R366C|SERBP1_ENST00000370990.5_Missense_Mutation_p.R375C|SERBP1_ENST00000370995.2_Missense_Mutation_p.R381C	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	381					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						CGGTTTGGGCGCCCACCACGC	0.517000													12	87					0	0	1	0	0
C15orf53	400359	broad.mit.edu	37	15	38990415	38990415	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:38990415G>T	ENST00000318792.1	+	2	219	c.209G>T	c.(208-210)gGa>gTa	p.G70V		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	70										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		tggaatctgggAGAAGATGCT	0.493000													7	49					8.12818e-05	9.40913e-05	1	1	0
PROX1	5629	broad.mit.edu	37	1	214209100	214209100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:214209100G>T	ENST00000366958.4	+	5	2745	c.2137G>T	c.(2137-2139)Gtc>Ttc	p.V713F	PROX1_ENST00000261454.4_Missense_Mutation_p.V713F|PROX1_ENST00000498508.2_Missense_Mutation_p.V713F|PROX1_ENST00000435016.1_Missense_Mutation_p.V713F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	713	Prospero-like.				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)		CATATACAAGGTCATCTGCAA	0.428000													15	37					1.3612e-06	1.71317e-06	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76486632	76486632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:76486632C>A	ENST00000307431.8	+	9	1681	c.1296C>A	c.(1294-1296)taC>taA	p.Y432*	CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.Y436*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Y384*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Y360*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	433	Laminin G-like 2.				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						CGAATCTCTACCAGCCAGGAA	0.433000													6	27					0.00116845	0.00129152	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98762651	98762651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:98762651C>T	ENST00000266058.4	-	35	4209	c.3964G>A	c.(3964-3966)Gag>Aag	p.E1322K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1322K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1322	Laminin G-like.				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)		TCCTGCAGCTCGTTGTTGATG	0.602000													10	162					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43704470	43704470	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:43704470G>C	ENST00000264663.5	+	22	3446	c.3225G>C	c.(3223-3225)gcG>gcC	p.A1075A	NNT_ENST00000344920.4_Silent_p.A1075A|NNT_ENST00000512996.2_Silent_p.A944A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1075					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)	CATGTGACGCGCTCCAGGCGA	0.438000													13	97					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685408	125685408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:125685408G>A	ENST00000371126.1	-	1	1426	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	395										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						TGCAGGTCCCGAAGAGGACTC	0.572000													10	46					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186517	73186517	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:73186517T>A	ENST00000286657.4	-	7	1052	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	339	Peptidase M12B.				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)			AGATCTTTGCTGTTGGGACGC	0.448000													13	92					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38877111	38877111	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:38877111G>A	ENST00000334928.6	-	3	923	c.791C>T	c.(790-792)gCc>gTc	p.A264V	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	264	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGAAGCTTTGGCTGCTAAGGA	0.642000													18	62					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090557	111090557	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:111090557G>T	ENST00000262839.2	-	6	2403	c.1485C>A	c.(1483-1485)tcC>tcA	p.S495S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	495					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						CTGTGAACAGGGATATGAGAC	0.483000													20	45					7.41877e-09	1.01428e-08	1	1	0
OVGP1	5016	broad.mit.edu	37	1	111957433	111957433	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:111957433G>T	ENST00000369732.3	-	11	1745	c.1690C>A	c.(1690-1692)Cct>Act	p.P564T		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	564					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.P564T(1)|p.P628T(1)		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)		TTCCTTCTAGGGGCCACTGTA	0.522000													12	109					2.27111e-07	2.94552e-07	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140221704	140221704	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140221704T>C	ENST00000531613.1	+	1	798	c.798T>C	c.(796-798)gcT>gcC	p.A266A	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A266A	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)			AACTGAATGCTTCTGATCCGG	0.388000													15	46					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89728399	89728399	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:89728399G>T	ENST00000343435.5	-	10	1968	c.1432C>A	c.(1432-1434)Cag>Aag	p.Q478K	GBP5_ENST00000370459.3_Missense_Mutation_p.Q478K|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	478						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)		GTGAGAGCCTGGTCAGTCTGT	0.378000													10	37					2.68362e-12	3.94248e-12	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88965939	88965939	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:88965939C>A	ENST00000333190.4	+	4	4252	c.3643C>A	c.(3643-3645)Cag>Aag	p.Q1215K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1215						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)			CACGTTCCTGCAGCATTTTGC	0.498000										HNSCC(36;0.09)			10	128					1.58986e-06	1.99164e-06	1	1	0
C7orf63	79846	broad.mit.edu	37	7	89917652	89917652	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:89917652A>G	ENST00000389297.4	+	15	2012	c.1761A>G	c.(1759-1761)acA>acG	p.T587T	C7orf63_ENST00000497910.1_Silent_p.T569T|C7orf63_ENST00000316089.8_Silent_p.T587T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	587							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTTAGTACATTGGACAGCA	0.378000													22	77					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71101181	71101181	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:71101181G>T	ENST00000288168.10	-	15	2151	c.2138C>A	c.(2137-2139)cCa>cAa	p.P713Q	HYDIN_ENST00000393550.2_Intron|HYDIN_ENST00000393567.2_Intron|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000448089.2_Intron			Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	696										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)				AGAGCAAGCTGGGGAGCAATA	0.587000													5	25					0.000602214	0.000673014	1	1	0
COQ10A	93058	broad.mit.edu	37	12	56663953	56663953	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:56663953C>G	ENST00000308197.5	+	5	857	c.596C>G	c.(595-597)tCt>tGt	p.S199C	COQ10A_ENST00000433805.2_Missense_Mutation_p.S167C|COQ10A_ENST00000546544.1_Missense_Mutation_p.S182C	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	199						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GAATTTCGTTCTCTGCTGCAC	0.483000													15	165					0	0	1	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41131448	41131448	+	Missense_Mutation	SNP	C	C	T	rs147796875	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:41131448C>T	ENST00000421990.2	-	3	610	c.265G>A	c.(265-267)Gat>Aat	p.D89N	PTGES3L_ENST00000453594.1_Missense_Mutation_p.D89N|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D89N|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D51N|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D28N|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D28N	NM_001136042.2	NP_001129514.2																					TCCACTCCATCGGCATTCTTG	0.512000													43	435					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231738190	231738190	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:231738190A>G	ENST00000326427.6	+	2	305	c.179A>G	c.(178-180)tAc>tGc	p.Y60C	ITM2C_ENST00000409704.2_5'UTR|ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000326407.6_Missense_Mutation_p.Y60C|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	60					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCGTGTGCTACCTGTCGATG	0.637000													7	42					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554308	140554308	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140554308G>A	ENST00000231137.3	+	1	2066	c.1892G>A	c.(1891-1893)aGc>aAc	p.S631N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		631	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)			AGGCTGCTGAGCGAGCGCGAC	0.687000													10	160					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432301	3432301	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:3432301A>C	ENST00000336727.3	+	17	4637	c.3733A>C	c.(3733-3735)Agc>Cgc	p.S1245R	RGS12_ENST00000382788.3_Missense_Mutation_p.S1245R|RGS12_ENST00000344733.5_Missense_Mutation_p.S1245R|RGS12_ENST00000338806.4_Missense_Mutation_p.S597R|RGS12_ENST00000306648.7_3'UTR|RGS12_ENST00000538395.1_3'UTR	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1245						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)		TAGCAAGAGAAGCGCCACAGG	0.652000													6	30					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231339746	231339746	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:231339746G>T	ENST00000444294.3	+	6	2520	c.1662G>T	c.(1660-1662)ggG>ggT	p.G554G	TRIM67_ENST00000366653.5_Silent_p.G556G|TRIM67_ENST00000366652.2_Silent_p.G556G|TRIM67_ENST00000449018.3_Silent_p.G494G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	556	Fibronectin type-III.					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)				ACGGTGCCGGGGGACAGTTCC	0.642000													5	59					2.0095e-06	2.50954e-06	1	1	0
SETX	23064	broad.mit.edu	37	9	135206728	135206728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:135206728G>C	ENST00000372169.2	-	8	1128	c.946C>G	c.(946-948)Caa>Gaa	p.Q316E	SETX_ENST00000393220.1_Missense_Mutation_p.Q316E|SETX_ENST00000224140.5_Missense_Mutation_p.Q316E			Q7Z333	SETX_HUMAN	senataxin	316					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)		ATAATGGTTTGAAATGCCACA	0.423000													6	86					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68943583	68943583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:68943583C>A	ENST00000456315.2	-	11	2299	c.2185G>T	c.(2185-2187)Gag>Tag	p.E729*	DEPDC1_ENST00000370966.5_Nonsense_Mutation_p.E445*	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	729					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)		TCATCAAACTCCTGAGCACTA	0.348000													25	143					4.72057e-08	6.26309e-08	1	1	0
C1orf162	128346	broad.mit.edu	37	1	112020707	112020707	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:112020707G>T	ENST00000343534.5	+	6	680	c.430G>T	c.(430-432)Gac>Tac	p.D144Y	C1orf162_ENST00000369718.3_Missense_Mutation_p.D119Y|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	144						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)		TGCAGACTTTGACCCCATTGT	0.423000													12	72					5.50884e-06	6.76465e-06	1	1	0
GAGE1	2543	broad.mit.edu	37	X	49369621	49369621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:49369621G>A	ENST00000381709.2	+	5	463	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	GAGE1_ENST00000381700.6_Intron			Q13065	GAGE1_HUMAN	G antigen 1	118					cellular defense response							Ovarian(276;0.236)					tcactatgttgcccagactgg	0.423000													5	25					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35162966	35162966	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:35162966C>A	ENST00000156471.5	-	31	3980	c.3755G>T	c.(3754-3756)gGa>gTa	p.G1252V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1252						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)		GTTTGGTCTTCCAATCAATGG	0.338000													4	35					0.150653	0.152925	1	1	0
ST8SIA4	7903	broad.mit.edu	37	5	100191928	100191928	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:100191928G>A	ENST00000231461.5	-	4	986	c.676C>T	c.(676-678)Cct>Tct	p.P226S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	226					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATGAAAGCAGGAATCCAAAGG	0.418000													9	78					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30545865	30545865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:30545865C>T	ENST00000326195.8	+	4	341	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ABCF1_ENST00000376545.3_Nonsense_Mutation_p.R77*|ABCF1_ENST00000396515.4_Nonsense_Mutation_p.R77*	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	77					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						AAAAAAAAAGCGAGATACCCG	0.493000													16	77					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327745	88327745	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:88327745C>A	ENST00000325089.6	+	2	321	c.102C>A	c.(100-102)gtC>gtA	p.V34V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	34						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)					CATCTCTCGTCCTTTCGTGTG	0.463000													18	88					4.75885e-15	7.26871e-15	1	1	0
EML2	24139	broad.mit.edu	37	19	46137675	46137675	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:46137675C>A	ENST00000536630.1	-	7	813	c.675G>T	c.(673-675)ggG>ggT	p.G225G	EML2_ENST00000587152.1_Silent_p.G279G|EML2_ENST00000589876.1_Silent_p.G78G|EML2_ENST00000245925.3_Silent_p.G78G	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	78					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)		ACACTATCTCCCCGGTGGGCA	0.557000													6	20					0.0215528	0.0223551	1	1	0
DDX52	11056	broad.mit.edu	37	17	35992314	35992314	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:35992314C>A	ENST00000349699.2	-	4	475	c.432G>T	c.(430-432)cgG>cgT	p.R144R	DDX52_ENST00000394367.3_Silent_p.R36R	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	144						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)				TGTGTTTATTCCGCAAGAAGT	0.373000													15	109					8.60227e-14	1.29676e-13	1	1	0
MFSD9	84804	broad.mit.edu	37	2	103347528	103347528	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:103347528C>A	ENST00000258436.5	-	3	297		c.e3-1			NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9						transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TAGGAGGAGCCTGTAAAAAAC	0.348000													9	61					2.17888e-05	2.58902e-05	1	1	0
ZNF91	7644	broad.mit.edu	37	19	23544294	23544294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:23544294C>T	ENST00000300619.7	-	4	1692	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	ZNF91_ENST00000397082.2_Missense_Mutation_p.G464D|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	496						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)				AAAAGCTTTGCCACATTCTTC	0.368000													7	45					0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795316	142795316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:142795316G>T	ENST00000370498.1	-	2	1115	c.362C>A	c.(361-363)tCt>tAt	p.S121Y		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	121								p.K49K(1)|p.S121F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGA	0.522000													19	211					1.67305e-13	2.50337e-13	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133187702	133187702	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:133187702G>T	ENST00000388996.4	-	5	1351	c.931C>A	c.(931-933)Ctg>Atg	p.L311M	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L311M|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L191M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	311					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)			TGACTCACCAGGCCCCACCAC	0.532000													11	105					0.010729	0.0113173	1	1	0
GPX6	257202	broad.mit.edu	37	6	28473480	28473480	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:28473480C>T	ENST00000361902.1	-	4	508	c.459_splice	c.e4+1	p.K153_splice	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	153					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTCATGCACCTTCAGGAAAG	0.468000													12	63					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15170451	15170451	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:15170451A>G	ENST00000198767.6	-	10	905	c.822T>C	c.(820-822)tgT>tgC	p.C274C	RRN3_ENST00000563559.1_Silent_p.C274C|RRN3_ENST00000564131.1_Silent_p.C274C|RRN3_ENST00000429751.2_Silent_p.C244C|RRN3_ENST00000540462.1_Silent_p.C92C|RRN3_ENST00000327307.7_Silent_p.C241C|PDXDC1_ENST00000535621.2_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	274					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTGTCCCACCACAAGTTTGAG	0.368000													9	55					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441971	114441971	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:114441971A>T	ENST00000375478.3	-	6	1504	c.1324T>A	c.(1324-1326)Ttt>Att	p.F442I	NXPE4_ENST00000424261.2_Missense_Mutation_p.F158I	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TCAATGGGAAAGGGTCTGAAA	0.448000													15	111					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931158	184931158	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:184931158G>T	ENST00000308497.4	+	3	2602	c.1167G>T	c.(1165-1167)ctG>ctT	p.L389L	STOX2_ENST00000438269.1_Silent_p.L389L	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	389					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)		GTTCACATCTGGATATCCCAG	0.488000													4	24					0.00909568	0.00960694	1	1	0
GOLGA3	2802	broad.mit.edu	37	12	133363311	133363311	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:133363311T>A	ENST00000204726.3	-	14	3432	c.2874A>T	c.(2872-2874)aaA>aaT	p.K958N	GOLGA3_ENST00000450791.2_Missense_Mutation_p.K958N|GOLGA3_ENST00000537452.1_Missense_Mutation_p.K958N|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K958N|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K958N	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	958					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)		CTTCGATTTGTTTCTTCAGCG	0.647000													27	108					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145659042	145659042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:145659042C>T	ENST00000409379.3	-	22	3517	c.3488G>A	c.(3487-3489)cGc>cAc	p.R1163H		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1163					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						CGCCTGCAGGCGCAGGGTGCT	0.632000													6	78					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263029	167263029	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:167263029C>A	ENST00000409855.1	-	25	4236	c.4110G>T	c.(4108-4110)atG>atT	p.M1370I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1370					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCAAAGGAAGCATCAGATTAT	0.428000													17	71					1.99824e-07	2.60836e-07	1	1	0
SH3BP1	23616	broad.mit.edu	37	22	38046214	38046214	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:38046214G>T	ENST00000599616.1	+	13	1180	c.1180G>T	c.(1180-1182)Gtc>Ttc	p.V394F	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.S490S|SH3BP1_ENST00000357436.4_Missense_Mutation_p.V458F			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	458	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)					GGTGGGCGTCGTCGAGGCGCT	0.637000													8	34					5.18039e-06	6.40024e-06	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46252339	46252339	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:46252339C>A	ENST00000510861.1	-	10	1515	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W	GABRA2_ENST00000507069.1_Missense_Mutation_p.G508W|GABRA2_ENST00000356504.1_Missense_Mutation_p.G448W|GABRA2_ENST00000381620.4_Missense_Mutation_p.G448W|GABRA2_ENST00000514090.1_Missense_Mutation_p.G448W|GABRA2_ENST00000540012.1_Missense_Mutation_p.G453W			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	448					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGACTGACCCCTAATACAGGT	0.338000													8	57					2.17888e-05	2.58902e-05	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140596039	140596039	+	Nonsense_Mutation	SNP	G	G	T	rs138168445	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140596039G>T	ENST00000341948.4	+	1	2531	c.2344G>T	c.(2344-2346)Gaa>Taa	p.E782*		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		782					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)			CCCTGGGAAAGAAATACAAGG	0.438000													26	61					1.64293e-13	2.46288e-13	1	1	0
GC	2638	broad.mit.edu	37	4	72634065	72634065	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:72634065C>A	ENST00000273951.8	-	3	557	c.214G>T	c.(214-216)Gaa>Taa	p.E72*	GC_ENST00000513476.1_Nonsense_Mutation_p.E72*|GC_ENST00000504199.1_Nonsense_Mutation_p.E91*|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	72	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)	CAGCAGGCTTCGGTCAAGGAG	0.527000													11	26					0.000673444	0.000750542	1	1	0
CEACAM5	1048	broad.mit.edu	37	19	42224891	42224891	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:42224891G>A	ENST00000221992.6	+	8	1935	c.1821G>A	c.(1819-1821)tcG>tcA	p.S607S	CEACAM5_ENST00000405816.1_Silent_p.S607S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.S606S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	607	Ig-like 7.					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)		CTTACCTTTCGGGAGCGAACC	0.542000													17	128					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166579304	166579304	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:166579304A>C	ENST00000296946.2	-	4	964	c.496T>G	c.(496-498)Tat>Gat	p.Y166D	T_ENST00000366871.3_Missense_Mutation_p.Y166D	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	166					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CGAGGCTCATACTTATGCAAG	0.498000									Chordoma, Familial Clustering of				42	250					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531674	92531674	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92531674C>A	ENST00000298047.6	+	9	5512	c.5495C>A	c.(5494-5496)gCa>gAa	p.A1832E	FAT3_ENST00000525166.1_Missense_Mutation_p.A1682E|FAT3_ENST00000409404.2_Missense_Mutation_p.A1832E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1832	Cadherin 16.				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)				AGTACAGGTGCAATCAGAACA	0.483000										TCGA Ovarian(4;0.039)			9	30					5.4927e-09	7.57356e-09	1	1	0
C9	735	broad.mit.edu	37	5	39364602	39364602	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:39364602G>T	ENST00000263408.4	-	0	60				C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						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)			TGGGGTGGCAGGGCAGGTCTG	0.512000													8	29					0.0381472	0.0391651	1	1	0
ASRGL1	80150	broad.mit.edu	37	11	62124476	62124476	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:62124476G>A	ENST00000415229.2	+	4	566	c.351G>A	c.(349-351)ctG>ctA	p.L117L	ASRGL1_ENST00000535727.1_5'UTR|ASRGL1_ENST00000301776.5_Silent_p.L117L	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	117					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	ATTGCTTTCTGACTGACCAAG	0.398000													8	75					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625427	43625427	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:43625427G>T	ENST00000332857.6	-	4	3288	c.3260C>A	c.(3259-3261)cCa>cAa	p.P1087Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTGACAGTTTGGGTTTCTGGG	0.512000													83	244					7.15876e-41	1.11451e-40	1	1	0
CALCRL	10203	broad.mit.edu	37	2	188247909	188247909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:188247909G>A	ENST00000409998.1	-	6	956	c.175C>T	c.(175-177)Caa>Taa	p.Q59*	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Nonsense_Mutation_p.Q59*|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Nonsense_Mutation_p.Q59*			Q16602	CALRL_HUMAN	calcitonin receptor-like	59						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CCTTCTGCTTGTTGAATGGGG	0.343000													10	98					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987495	61987495	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:61987495G>T	ENST00000409186.1	-	5	2842	c.737C>A	c.(736-738)aCc>aAc	p.T246N	PCDH20_ENST00000409204.4_Missense_Mutation_p.T246N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	219	Cadherin 2.				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)		TAAGCGATAGGTCTGTACCCC	0.537000													21	88					1.96292e-10	2.79725e-10	1	1	0
DGKA	1606	broad.mit.edu	37	12	56333089	56333089	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:56333089G>T	ENST00000331886.5	+	8	1048	c.594_splice	c.e8+1	p.M198_splice	DGKA_ENST00000394147.1_Splice_Site_p.M198_splice|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Splice_Site_p.M198_splice	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	198					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)	GTCTGGAGATGGTGAGTAGGA	0.562000													21	87					2.4624e-09	3.42447e-09	1	1	0
MTMR4	9110	broad.mit.edu	37	17	56584607	56584607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:56584607C>A	ENST00000323456.5	-	9	863	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.D247Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	247	Myotubularin phosphatase.					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)					TACTCATCATCAGCATTGCGC	0.592000													12	61					6.40141e-05	7.46369e-05	1	1	0
SLC6A12	6539	broad.mit.edu	37	12	319115	319115	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:319115G>A	ENST00000428720.1	-	3	781	c.38C>T	c.(37-39)cCt>cTt	p.P13L	SLC6A12_ENST00000536824.1_Missense_Mutation_p.P13L|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P13L|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P13L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P13L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	13					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)			GGAGACTGCAGGAGGCCCACA	0.622000													10	65					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66126605	66126605	+	RNA	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:66126605A>G	ENST00000590019.1	-	0	298																											AGGAACCAGAAGGGCAATGGG	0.517000													6	21					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153042340	153042340	+	Splice_Site	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:153042340A>T	ENST00000538966.1	+	30	5173		c.e30-1		SRPK3_ENST00000489426.1_Splice_Site|PLXNB3_ENST00000538776.1_Splice_Site|PLXNB3_ENST00000361971.5_Splice_Site	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)					CATCTCTGCCAGGTCCCAGAT	0.692000													3	5					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151388886	151388886	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:151388886G>T	ENST00000535741.1	-	44	7192	c.6719C>A	c.(6718-6720)aCt>aAt	p.T2240N	LRBA_ENST00000510413.1_Missense_Mutation_p.T2240N|LRBA_ENST00000507224.1_Missense_Mutation_p.T2240N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.T2251N			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2251	BEACH.					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)					TTCATAATTAGTGATGACCCA	0.333000													8	61					0.00448238	0.00481618	1	1	0
CEACAM18	729767	broad.mit.edu	37	19	51981922	51981922	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:51981922G>T	ENST00000396477.4	+	1	47	c.26G>T	c.(25-27)aGc>aTc	p.S9I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.S70I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	70						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCAGATGGAGCCTGTGGAGG	0.622000													5	29					0.014758	0.0154462	1	1	0
CHL1	10752	broad.mit.edu	37	3	424202	424202	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:424202G>T	ENST00000256509.2	+	18	2666	c.2024G>T	c.(2023-2025)tGg>tTg	p.W675L	CHL1_ENST00000397491.2_Missense_Mutation_p.W659L|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	659	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)		CCTGGAAGGTGGGAGGAACTG	0.393000													7	89					0.00307968	0.00332671	1	1	0
RPLP0P6	220717	broad.mit.edu	37	2	38709678	38709678	+	RNA	SNP	C	C	T	rs148735877	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709678C>T	ENST00000417039.1	-	0	696																											TGTCTGCAGACTGGCTACCCA	0.512000													20	61					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46602956	46602956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:46602956G>T	ENST00000263734.3	+	8	1524	c.1014G>T	c.(1012-1014)atG>atT	p.M338I		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	338	PAC.				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			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)			AGTGCATCATGTGTGTCAACT	0.612000													11	86					1.61879e-10	2.31502e-10	1	1	0
OTOL1	131149	broad.mit.edu	37	3	161217019	161217019	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:161217019A>T	ENST00000327928.4	+	2	425	c.425A>T	c.(424-426)cAa>cTa	p.Q142L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	142	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTTGGGCCCCAAGGCCCTAGA	0.428000													9	19					0	0	1	0	0
FAM20B	9917	broad.mit.edu	37	1	179033207	179033207	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:179033207G>C	ENST00000263733.4	+	5	1056	c.720G>C	c.(718-720)agG>agC	p.R240S		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	240						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						CATGGGGCAGGACTTACCGAG	0.527000													16	92					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	25704371	25704371	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:25704371C>G	ENST00000331351.5	+	1	1025	c.633C>G	c.(631-633)cgC>cgG	p.R211R		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	211					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGGGACCCGCGCGCTGCTGG	0.662000													4	21					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22446778	22446778	+	RNA	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:22446778A>T	ENST00000390443.3	+	0	80																											CTTAAGGGAAAGCCTCTTTCT	0.517000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	27					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760565	176760565	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:176760565C>A	ENST00000367662.3	+	19	6131	c.4967C>A	c.(4966-4968)cCc>cAc	p.P1656H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1656	Poly-Pro.|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						TGCCCACCACCCCCCTCAGAG	0.428000													17	44					3.41278e-10	4.8548e-10	1	1	0
KCNK4	50801	broad.mit.edu	37	11	64067024	64067024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:64067024C>A	ENST00000538767.1	+	6	913	c.661C>A	c.(661-663)Cct>Act	p.P221T	KCNK4_ENST00000539216.1_Silent_p.A336A|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_Silent_p.A336A|KCNK4_ENST00000422670.2_Silent_p.A336A			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	316						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CGGCCTCGGCCCTGGATTATC	0.736000													10	60					2.80697e-09	3.89028e-09	1	1	0
EEA1	8411	broad.mit.edu	37	12	93171788	93171788	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:93171788T>A	ENST00000322349.8	-	26	4086	c.3822A>T	c.(3820-3822)ttA>ttT	p.L1274F		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1274					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						TTTCACCCCGTAAGTCATCCG	0.383000													18	124					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599097	179599097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179599097C>A	ENST00000589042.1	-	52	15678	c.15454G>T	c.(15454-15456)Gaa>Taa	p.E5152*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E3908*|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.E4835*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4835	Ig-like 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)			TTGCCGACTTCATTAGCAACA	0.368000													25	139					3.6726e-16	5.64156e-16	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85518156	85518156	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:85518156G>T	ENST00000393217.2	+	17	3927	c.3866G>T	c.(3865-3867)aGa>aTa	p.R1289I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1289										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)		ATGGAAGGAAGACATCAGGAA	0.428000													29	173					7.26314e-15	1.1052e-14	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177928091	177928091	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177928091C>T	ENST00000308284.6	-	9	1107	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	SEC16B_ENST00000464631.1_Missense_Mutation_p.D341N|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	340					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						GTCATAATATCCACCTTATGT	0.498000													5	17					0	0	1	0	0
HNMT	3176	broad.mit.edu	37	2	138771667	138771667	+	Silent	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:138771667T>C	ENST00000280097.3	+	6	1028	c.846T>C	c.(844-846)aaT>aaC	p.N282N	HNMT_ENST00000410115.1_Silent_p.N282N	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	282					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TTCTTTTTAATAATACTCTGA	0.348000													27	89					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		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.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(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)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	17					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919654	70919654	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:70919654C>G	ENST00000264436.3	-	7	1030	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	ADD2_ENST00000355733.3_Missense_Mutation_p.E196Q|ADD2_ENST00000430656.1_Missense_Mutation_p.E212Q|ADD2_ENST00000413157.2_Missense_Mutation_p.E196Q|ADD2_ENST00000407644.2_Missense_Mutation_p.E196Q	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	196					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						CTGCCCTTCTCCACCACCTCT	0.612000													5	29					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14150441	14150441	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:14150441C>G	ENST00000263379.2	+	3	465	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	114					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						AGGCCAGCCTCTCTGGCCCCC	0.622000													8	85					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7018191	7018191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:7018191G>A	ENST00000382040.3	+	1	396	c.260G>A	c.(259-261)tGc>tAc	p.C87Y		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	87					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)		AACTACAAATGCGGCTTCTGT	0.522000													5	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069845	9069845	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9069845A>G	ENST00000397910.4	-	3	17804	c.17601T>C	c.(17599-17601)ccT>ccC	p.P5867P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5869	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						TAGTCCCTATAGGACCTGTTT	0.493000													33	115					0	0	1	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815887	106815887	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:106815887C>T	ENST00000390615.2	-	0	265																											ACTCCAGCCCCTTGCCTGGAG	0.547000													8	158					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068843	9068843	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:9068843G>A	ENST00000397910.4	-	3	18806	c.18603C>T	c.(18601-18603)aaC>aaT	p.N6201N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6203	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						TGAGATCATTGTTCATGACAC	0.478000													15	84					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50386922	50386922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:50386922G>A	ENST00000221543.5	+	10	1345	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R316H	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	349	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)		GAGTATTTCCGCATGAAGCTG	0.577000													6	43					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500287	48500287	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:48500287C>A	ENST00000396577.3	+	2	586	c.371C>A	c.(370-372)cCc>cAc	p.P124H	SLC12A1_ENST00000558405.1_Missense_Mutation_p.P124H|SLC12A1_ENST00000561031.1_Missense_Mutation_p.P124H|SLC12A1_ENST00000330289.6_Missense_Mutation_p.P124H|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P124H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	124					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)	ATCAGTGGGCCCAAGGTCAAC	0.478000													12	88					0.000151284	0.000174376	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77614132	77614132	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:77614132C>G	ENST00000461745.1	+	12	2610	c.1710C>G	c.(1708-1710)acC>acG	p.T570T	ROBO2_ENST00000487694.3_Silent_p.T586T|ROBO2_ENST00000332191.8_Silent_p.T570T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	570	Fibronectin type-III 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)		GCTGGCAGACCGTGGCAAACC	0.448000													12	54					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66639214	66639214	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:66639214C>A	ENST00000393960.1	-	5	546	c.265G>T	c.(265-267)Ggc>Tgc	p.G89C	PC_ENST00000393958.2_Missense_Mutation_p.G89C|PC_ENST00000393955.2_Missense_Mutation_p.G89C|PC_ENST00000355677.3_Missense_Mutation_p.G89C|PC_ENST00000524491.1_Missense_Mutation_p.G49C	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	89	Biotin carboxylation.				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)	GGGGCCAGGCCGCGGCCGATG	0.652000													4	12					0.00024832	0.000283794	1	1	0
RNF168	165918	broad.mit.edu	37	3	196215545	196215545	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:196215545T>C	ENST00000318037.3	-	2	905	c.311A>G	c.(310-312)tAt>tGt	p.Y104C		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	104					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-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;0.00348)		AACTGGCTGATAGTCATCAGC	0.313000													14	37					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	736745	736745	+	Splice_Site	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:736745T>A	ENST00000293883.4	-	3	2090	c.1332_splice	c.e3+1	p.Q444_splice	WDR24_ENST00000248142.6_Splice_Site_p.Q574_splice	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	574										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)				CCTACCTACCTGGTTGCGGCC	0.652000													8	66					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155743916	155743916	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:155743916G>T	ENST00000159060.2	-	10	1322	c.1220C>A	c.(1219-1221)gCg>gAg	p.A407E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	407							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)		TCCGATCCCCGCGGCAACGCA	0.527000													14	119					3.27435e-08	4.37302e-08	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152542132	152542132	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:152542132C>G	ENST00000367255.5	-	119	22307	c.21706G>C	c.(21706-21708)Gcc>Ccc	p.A7236P	SYNE1_ENST00000356820.4_Missense_Mutation_p.A1760P|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7165P|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6848P|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7165P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7236P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7236					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)		TGAAGTAGGGCCTTGCTGGAC	0.473000										HNSCC(10;0.0054)			9	89					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952399	33952399	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:33952399C>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TGCAGTGCCCCAGGCTCAGCA	0.647000													4	13					0.00909568	0.00960694	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18034650	18034650	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:18034650T>C	ENST00000205890.5	+	9	4474	c.4136T>C	c.(4135-4137)cTg>cCg	p.L1379P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1379	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)					GAAATCTTTCTGGAAGGGTGA	0.567000													9	42					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105577301	105577301	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:105577301C>A	ENST00000314641.5	-	3	520	c.304G>T	c.(304-306)Ggt>Tgt	p.G102C	BVES_ENST00000446408.2_Missense_Mutation_p.G102C|BVES_ENST00000336775.5_Missense_Mutation_p.G102C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	102					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATGTTGACACCCAAGAACACA	0.358000													7	49					8.12818e-05	9.40913e-05	1	1	0
FAT3	120114	broad.mit.edu	37	11	92531676	92531676	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92531676A>T	ENST00000298047.6	+	9	5514	c.5497A>T	c.(5497-5499)Atc>Ttc	p.I1833F	FAT3_ENST00000525166.1_Missense_Mutation_p.I1683F|FAT3_ENST00000409404.2_Missense_Mutation_p.I1833F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1833	Cadherin 16.				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)				TACAGGTGCAATCAGAACAAT	0.483000										TCGA Ovarian(4;0.039)			9	31					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97368984	97368984	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:97368984C>T	ENST00000457909.1	+	0	5095							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				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						CCAAGTGGCCCTATTTCATCC	0.582000													19	114					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194884	45194884	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:45194884G>A	ENST00000279027.4	-	11	1496	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	SLC13A3_ENST00000413164.2_Missense_Mutation_p.P443L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P446L|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P411L|SLC13A3_ENST00000435032.1_Missense_Mutation_p.P78L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P446L|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P411L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	493						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGCCAGGACCGGCAGGAAGAT	0.602000													10	135					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89859300	89859300	+	Missense_Mutation	SNP	A	A	G	rs140360438		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:89859300A>G	ENST00000287908.3	+	4	1528	c.1135A>G	c.(1135-1137)Atc>Gtc	p.I379V	STEAP2_ENST00000394632.1_Missense_Mutation_p.I379V|STEAP2_ENST00000394626.1_Missense_Mutation_p.I379V|STEAP2_ENST00000394621.2_Missense_Mutation_p.I379V|STEAP2_ENST00000402625.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I379V|STEAP2_ENST00000394629.2_Missense_Mutation_p.I379V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	379	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AGTCACTTCTATCCCTTCAGT	0.408000													42	182					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51411043	51411043	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:51411043C>G	ENST00000216392.7	-	1	411	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	PYGL_ENST00000532462.1_Missense_Mutation_p.E27Q|PYGL_ENST00000544180.2_Missense_Mutation_p.E27Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	27					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)	TTCTTCAGCTCTGCCACGTTC	0.667000													5	36					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107263575	107263575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:107263575C>A	ENST00000282251.5	-	11	1691	c.1664G>T	c.(1663-1665)gGa>gTa	p.G555V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.G555V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	555							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)		CCATACTCTTCCAGACTGATC	0.348000													7	37					5.18039e-06	6.40024e-06	1	1	0
ULK4	54986	broad.mit.edu	37	3	41795981	41795981	+	Splice_Site	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:41795981C>A	ENST00000301831.4	-	22	2656		c.e22-1			NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4								ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACAAAACCCTGTAGAAGAC	0.363000													6	38					0.217242	0.218867	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54297342	54297342	+	Silent	SNP	C	C	A	rs148506660		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:54297342C>A	ENST00000324134.6	-	10	3315	c.3147G>T	c.(3145-3147)gcG>gcT	p.A1049A	NLRP12_ENST00000391775.3_Silent_p.A992A|NLRP12_ENST00000351894.4_Silent_p.A937A|NLRP12_ENST00000345770.5_Silent_p.A994A|NLRP12_ENST00000391772.1_Silent_p.A880A|NLRP12_ENST00000354278.3_Silent_p.A880A|NLRP12_ENST00000535162.1_Silent_p.A992A|NLRP12_ENST00000391773.1_Silent_p.A1050A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					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	p.A1049A(1)		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)		TTACTCGAAGCGCTGCCAACC	0.463000													5	59					0.184627	0.186707	1	1	0
POLN	353497	broad.mit.edu	37	4	2178012	2178012	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:2178012T>A	ENST00000511885.2	-	9	1582	c.1229A>T	c.(1228-1230)gAc>gTc	p.D410V	POLN_ENST00000382865.1_Missense_Mutation_p.D410V|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	410					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGAGCAAAGGTCCATTGTAAG	0.403000								DNA polymerases (catalytic subunits)					12	112					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588691	20588691	+	RNA	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:20588691A>T	ENST00000428453.1	-	0	4059																				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						CTCCAAAAACAACATCTGGAC	0.318000													6	79					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5244023	5244023	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:5244023T>G	ENST00000372412.4	-	11	1695	c.1462A>C	c.(1462-1464)Acc>Ccc	p.T488P	PTPRS_ENST00000262963.6_Missense_Mutation_p.T483P|PTPRS_ENST00000353284.2_Missense_Mutation_p.T474P|PTPRS_ENST00000348075.2_Missense_Mutation_p.T474P|PTPRS_ENST00000587303.1_Missense_Mutation_p.T487P|PTPRS_ENST00000588012.1_Missense_Mutation_p.T474P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.T474P|PTPRS_ENST00000357368.4_Missense_Mutation_p.T487P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	487	Fibronectin type-III 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)		CTGCCCACGGTGGTCAGCAGG	0.667000													19	53					0	0	1	0	0
IGSF6	10261	broad.mit.edu	37	16	21652900	21652900	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:21652900G>T	ENST00000268389.4	-	6	742	c.681C>A	c.(679-681)aaC>aaA	p.N227K	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	227					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)		TTTCATAAGTGTTGTTATCTT	0.373000													4	23					0.00909568	0.00960694	1	1	0
MYO3B	140469	broad.mit.edu	37	2	171259392	171259392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:171259392G>A	ENST00000334231.6	+	19	2191	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N	MYO3B_ENST00000409044.3_Missense_Mutation_p.D722N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D722N|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	722	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						GGGGATCTTGGATATCTTTGG	0.403000													23	77					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300693	158300693	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158300693C>G	ENST00000368168.3	-	2	328	c.221G>C	c.(220-222)gGt>gCt	p.G74A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	74					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)					ACTAAAGTTACCTTTAGACCA	0.473000													49	324					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701247	192701247	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:192701247C>G	ENST00000304141.4	-	2	1009	c.680G>C	c.(679-681)aGg>aCg	p.R227T		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	227						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)	TTTCTCTGCCCTACTTTCTTC	0.493000													14	153					0	0	1	0	0
PSMA2	5683	broad.mit.edu	37	7	42957398	42957398	+	Silent	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:42957398A>G	ENST00000442788.1	-	7	582	c.567T>C	c.(565-567)caT>caC	p.H189H	PSMA2_ENST00000223321.4_Silent_p.H189H|PSMA2_ENST00000445517.1_Silent_p.H119H			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	189					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						AGATGGCTGTATGAATGGCAT	0.279000													12	64					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75528771	75528771	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:75528771G>T	ENST00000339365.2	+	18	2447	c.2285G>T	c.(2284-2286)cGt>cTt	p.R762L	SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000535742.1_Missense_Mutation_p.R10L|SEC24C_ENST00000345254.4_Missense_Mutation_p.R762L|SEC24C_ENST00000540668.1_Missense_Mutation_p.R10L|SEC24C_ENST00000411652.2_Missense_Mutation_p.R643L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	762					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)					TCAGGTATCCGTGCTGTAGAT	0.507000													4	29					0.184627	0.186707	1	1	0
STK33	65975	broad.mit.edu	37	11	8494769	8494769	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:8494769C>A	ENST00000447869.1	-	2	1198	c.280G>T	c.(280-282)Ggc>Tgc	p.G94C	STK33_ENST00000396673.1_Missense_Mutation_p.G94C|STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Missense_Mutation_p.G94C|STK33_ENST00000396672.1_Missense_Mutation_p.G94C|STK33_ENST00000534493.1_Missense_Mutation_p.G53C			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	94						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)		GTAAAGTTGCCCCGACCCCAT	0.368000													12	112					9.31168e-06	1.13653e-05	1	1	0
ASB2	51676	broad.mit.edu	37	14	94423168	94423168	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:94423168C>A	ENST00000555019.1	-	3	685	c.255G>T	c.(253-255)ttG>ttT	p.L85F	ASB2_ENST00000315988.4_Missense_Mutation_p.L37F|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	37					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CCCCTTGGAACAAGCCCATTG	0.577000													8	97					1.26484e-09	1.77122e-09	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764186	77764186	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:77764186G>T	ENST00000521891.2	+	10	5477	c.5029G>T	c.(5029-5031)Gat>Tat	p.D1677Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1651Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1632Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1632Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1632	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1677N(1)		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)			GCAAACTCCTGATTTAATCTC	0.433000										HNSCC(33;0.089)			6	67					5.9392e-07	7.60519e-07	1	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220364471	220364471	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:220364471C>T	ENST00000358951.2	-	14	1542	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	476					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)		CTCCACACTTCTAAAATTCCC	0.478000													8	116					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19681556	19681556	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:19681556G>T	ENST00000397977.3	+	7	1234		c.e7+1			NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10						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)		AAGGAAGACGGTAATAAATAG	0.353000													6	99					0.00198382	0.00216905	1	1	0
IL21	59067	broad.mit.edu	37	4	123542011	123542011	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:123542011A>C	ENST00000264497.3	-	1	213	c.156T>G	c.(154-156)taT>taG	p.Y52*	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	45					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AGTCATTCACATAATTTTTCA	0.343000													6	63					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26905515	26905515	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:26905515C>A	ENST00000321765.5	-	21	3562	c.3230G>T	c.(3229-3231)cGc>cTc	p.R1077L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1077					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)					CCGAAGTGAGCGGGTAAGGTG	0.547000													18	95					1.01871e-10	1.45943e-10	1	1	0
SLC26A7	115111	broad.mit.edu	37	8	92406494	92406494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:92406494C>T	ENST00000309536.2	+	19	2204	c.1984C>T	c.(1984-1986)Ccg>Tcg	p.P662S	SLC26A7_ENST00000276609.3_Intron|SLC26A7_ENST00000520249.1_Intron|SLC26A7_ENST00000523719.1_Intron	NM_134266.1	NP_599028.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	0						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)			AACAATGCCACCGCTCTGAGG	0.413000													6	33					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521323	125521323	+	Missense_Mutation	SNP	G	G	A	rs62171340		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:125521323G>A	ENST00000431078.1	+	15	2670	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	769	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATACCGACAGATCAAACTCA	0.413000													4	21					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138432261	138432261	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:138432261C>A	ENST00000310018.2	-	13	1511	c.1229G>T	c.(1228-1230)gGa>gTa	p.G410V	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G410V|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G410V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	410					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACCACAGTCTCCAAACATCAC	0.567000													15	45					2.32078e-09	3.23309e-09	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108378007	108378007	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:108378007G>C	ENST00000263054.6	-	21	2827	c.2820C>G	c.(2818-2820)agC>agG	p.S940R	SORCS1_ENST00000344440.6_Missense_Mutation_p.S940R|SORCS1_ENST00000369698.1_Missense_Mutation_p.S475R|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	940						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)		TGAAGGATATGCTTCCCTCCA	0.453000													7	45					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560590	35560590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:35560590G>A	ENST00000455600.1	+	10	4522	c.3953G>A	c.(3952-3954)cGa>cAa	p.R1318Q		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1318						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)			CCACCACCCCGAGAGGGAGTA	0.662000													8	32					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103312	55103312	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:55103312G>C	ENST00000491143.2	+	1	396	c.364G>C	c.(364-366)Gag>Cag	p.E122Q		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	122					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)		CTACCGGCCCGAGCTCTCCAT	0.701000													7	21					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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)			8	27					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023700	18023700	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:18023700G>C	ENST00000361221.3	+	29	3824	c.3665G>C	c.(3664-3666)cGc>cCc	p.R1222P	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1183P|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R995P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1183P|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R925P	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1222					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)		ATCTGGGTGCGCAGCCGGCCC	0.682000													6	41					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858458	9858458	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:9858458C>T	ENST00000396573.2	-	14	3252	c.2943G>A	c.(2941-2943)caG>caA	p.Q981Q	GRIN2A_ENST00000396575.2_Silent_p.Q981Q|GRIN2A_ENST00000404927.2_Silent_p.Q981Q|GRIN2A_ENST00000562109.1_Silent_p.Q981Q|GRIN2A_ENST00000330684.3_Silent_p.Q981Q|GRIN2A_ENST00000535259.1_Silent_p.Q824Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	981					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			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)	GATGTTGTCCCTGGAATACAT	0.493000													13	96					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84642107	84642107	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:84642107T>A	ENST00000284136.6	-	15	1802	c.1759A>T	c.(1759-1761)Atc>Ttc	p.I587F	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	587					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						CTGTCTTCGATGTCCCAGCAC	0.388000													11	55					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13621215	13621215	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:13621215G>C	ENST00000361205.4	+	5	949	c.281G>C	c.(280-282)cGg>cCg	p.R94P	LDLRAD4_ENST00000359446.5_Missense_Mutation_p.R94P|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R57P|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R17P|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R57P|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R94P	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		GTCTCCACGCGGTCCTTCATC	0.637000													10	124					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144757140	144757140	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:144757140A>G	ENST00000367545.3	+	9	925	c.925A>G	c.(925-927)Atg>Gtg	p.M309V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	309	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)		TGAGGTTGACATGGATCTGGA	0.498000													14	60					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155727	22155727	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:22155727G>T	ENST00000397126.4	-	4	2257	c.2109C>A	c.(2107-2109)aaC>aaA	p.N703K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGACCAGTTGAAAGCTT	0.378000													5	45					1.23904e-05	1.49648e-05	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184041346	184041346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:184041346C>T	ENST00000342981.4	+	14	2656	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.R660*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.R747*|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.R747*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.R584*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.R551*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.R552*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.R708*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.R707*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.R754*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.R583*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.R661*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	747	MIF4G.|eIF3/EIF4A-binding.				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)			TGATAAGGATCGAGGGGAAGA	0.502000													8	132					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	641463	641463	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:641463G>A	ENST00000581619.1	+	7	2053	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	CLUL1_ENST00000338387.7_Silent_p.K377K|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000400606.2_Silent_p.K377K|CLUL1_ENST00000579494.1_Silent_p.K377K|CLUL1_ENST00000540035.1_Silent_p.K429K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	377					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGGTGGAGAAGATGAGAGGGC	0.502000													11	97					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6903881	6903881	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:6903881G>T	ENST00000312053.4	+	7	759	c.722G>T	c.(721-723)aGc>aTc	p.S241I	EMR1_ENST00000381407.5_Missense_Mutation_p.S100I|EMR1_ENST00000250572.8_Missense_Mutation_p.S241I|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.S189I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	241	EGF-like 5; 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)					ACTCCTGGGAGCTACTTTTGC	0.488000													6	82					8.12818e-05	9.40913e-05	1	1	0
ATP8A1	10396	broad.mit.edu	37	4	42445654	42445654	+	Silent	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:42445654G>C	ENST00000381668.5	-	33	3282	c.3051C>G	c.(3049-3051)ctC>ctG	p.L1017L	ATP8A1_ENST00000264449.10_Silent_p.L1002L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1017					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)	ACACCACCCAGAGTGCGATGC	0.448000													4	33					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974106	44974106	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:44974106G>T	ENST00000340446.4	-	1	2376	c.2085C>A	c.(2083-2085)acC>acA	p.T695T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	695						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)		CTGCAGCAAGGGTCTCTTCTA	0.567000													8	35					1.06961e-07	1.40757e-07	1	1	0
RPLP0P6	220717	broad.mit.edu	37	2	38709145	38709145	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709145C>T	ENST00000417039.1	-	0	696																											GCGGGAAGGTCGTGGTGCTGA	0.537000													12	88					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138597198	138597198	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:138597198T>C	ENST00000440172.1	-	3	2935	c.2887A>G	c.(2887-2889)Aga>Gga	p.R963G	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R963G|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R913G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	963						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGCTCTTCTGGCCAGCACT	0.468000			O	BRAF	pilocytic astrocytoma								7	32					0	0	1	0	0
MS4A13	503497	broad.mit.edu	37	11	60292741	60292741	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:60292741T>A	ENST00000378186.2	+	5	571	c.248T>A	c.(247-249)cTa>cAa	p.L83Q	MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000437058.2_Intron|MS4A13_ENST00000378185.2_Intron	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	83						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						GCAGTAACTCTAACAATAATA	0.284000													7	32					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115535551	115535551	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:115535551G>A	ENST00000354462.3	+	4	365	c.207G>A	c.(205-207)gaG>gaA	p.E69E	PLEKHS1_ENST00000361048.1_Silent_p.E339E|PLEKHS1_ENST00000369309.1_Silent_p.E153E|PLEKHS1_ENST00000369312.4_Silent_p.E237E|PLEKHS1_ENST00000369310.3_Silent_p.E319E					pleckstrin homology domain containing, family S member 1																		GCCAAGTGGAGAAACTGAACG	0.438000													7	72					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533905	92533905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:92533905G>A	ENST00000298047.6	+	9	7743	c.7726G>A	c.(7726-7728)Gat>Aat	p.D2576N	FAT3_ENST00000525166.1_Missense_Mutation_p.D2426N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2576N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2576	Cadherin 23.				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)				GAGGGCCCTTGATGGTGGAGG	0.473000										TCGA Ovarian(4;0.039)			11	44					0	0	1	0	0
MIR154	406946	broad.mit.edu	37	14	101526152	101526152	+	RNA	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:101526152G>T	ENST00000385243.1	+	0	61					NR_029704.1																						AATCATACACGGTTGACCTAT	0.507000													13	102					4.3838e-07	5.63134e-07	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25446281	25446281	+	RNA	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:25446281A>T	ENST00000424208.1	+	0	1857				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGTTCCCCTAGACTGTGAAA	0.562000													3	17					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63401895	63401895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:63401895C>T	ENST00000409120.1	-	9	4962	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	WDPCP_ENST00000409199.1_Missense_Mutation_p.G471E|WDPCP_ENST00000398544.3_Missense_Mutation_p.G504E|WDPCP_ENST00000272321.7_Missense_Mutation_p.G663E			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	663					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGAGTCTTCTCCTTGAGGTGC	0.418000													11	88					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375691	175375691	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:175375691A>T	ENST00000367674.1	-	3	868	c.160T>A	c.(160-162)Tac>Aac	p.Y54N	TNR_ENST00000263525.2_Missense_Mutation_p.Y54N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	54					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)					GATGTGTTGTAGTTGGCAATG	0.552000													15	188					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225912	158225912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:158225912G>A	ENST00000289429.5	+	3	977	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	148					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)	ACAATTCATGGTTGCCATATC	0.448000													16	91					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39745659	39745659	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:39745659G>A	ENST00000395670.3	-	11	2012	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	KIF21A_ENST00000544797.2_Silent_p.D531D|KIF21A_ENST00000361418.5_Silent_p.D531D|KIF21A_ENST00000361961.3_Silent_p.D531D|KIF21A_ENST00000541463.2_Silent_p.D531D			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	531					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)				TGGTTTCTTTGTCTGAGGATA	0.358000													9	90					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154226498	154226498	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:154226498C>A	ENST00000428931.1	+	15	1954	c.1787C>A	c.(1786-1788)tCc>tAc	p.S596Y	UBAP2L_ENST00000361546.2_Missense_Mutation_p.S596Y|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S596Y|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S607Y	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	596					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAACAGAGATCCACACAGACT	0.502000													6	61					0.0293803	0.0303184	1	1	0
HEPH	9843	broad.mit.edu	37	X	65417576	65417576	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:65417576G>C	ENST00000519389.1	+	10	1894	c.1715G>C	c.(1714-1716)cGc>cCc	p.R572P	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Missense_Mutation_p.R251P|HEPH_ENST00000343002.2_Missense_Mutation_p.R518P|HEPH_ENST00000441993.2_Missense_Mutation_p.R521P|HEPH_ENST00000374727.3_Missense_Mutation_p.R521P			Q9BQS7	HEPH_HUMAN	hephaestin	518	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			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						GTAACATACCGCTGGACAGTC	0.473000													9	30					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051804	96051804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:96051804G>A	ENST00000297954.4	+	20	4879	c.4879G>A	c.(4879-4881)Ggg>Agg	p.G1627R	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.G1590R|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.G1202R|WNK2_ENST00000349097.3_Missense_Mutation_p.G1239R			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1627					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						GCCCCTGAGAGGGGACCAGCC	0.697000													6	24					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23091305	23091305	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:23091305C>A	ENST00000219689.7	-	13	2137	c.2138G>T	c.(2137-2139)tGc>tTc	p.C713F		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	713					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)		ATGGTGATTGCACACAGCATA	0.587000													8	42					0.000442599	0.000500168	1	1	0
SPTB	6710	broad.mit.edu	37	14	65241981	65241981	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:65241981C>G	ENST00000389722.3	-	22	4757	c.4704G>C	c.(4702-4704)agG>agC	p.R1568S	SPTB_ENST00000542895.1_Missense_Mutation_p.R1568S|SPTB_ENST00000389720.3_Missense_Mutation_p.R1568S|SPTB_ENST00000389721.5_Missense_Mutation_p.R1568S|SPTB_ENST00000556626.1_Missense_Mutation_p.R1568S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1568					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)		CCTCCCGCAGCCTGTCCCAGG	0.677000													4	39					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917390	97917390	+	RNA	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:97917390C>T	ENST00000534948.1	+	0	2168							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)		TAGCAGTTTCCCCTAACTATA	0.368000													7	58					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42486208	42486208	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:42486208C>A	ENST00000379310.3	-	3	406	c.338G>T	c.(337-339)gGg>gTg	p.G113V	VWA8_ENST00000281496.6_Missense_Mutation_p.G113V	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TCGAAGAGGCCCAGGAGGTCC	0.388000													8	76					0.000274275	0.000311256	1	1	0
SORBS1	10580	broad.mit.edu	37	10	97096645	97096645	+	Missense_Mutation	SNP	C	C	T	rs117449139	byFrequency	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:97096645C>T	ENST00000371247.2	-	30	3461	c.3272G>A	c.(3271-3273)aGc>aAc	p.S1091N	SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S1045N|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.S1091N|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000353505.5_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1091					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)		CTGCAAGAAGCTATCTTGGTG	0.557000													6	55					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5211644	5211644	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:5211644C>G	ENST00000372412.4	-	33	5427	c.5194G>C	c.(5194-5196)Gag>Cag	p.E1732Q	PTPRS_ENST00000262963.6_Missense_Mutation_p.E1711Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1284Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1693Q|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1731Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1693Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1284Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1731Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1731	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)		TCAGAGCCCTCCACACCCCGG	0.552000													6	39					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640477	7640477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:7640477C>T	ENST00000359156.4	-	7	1829	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CD163_ENST00000396620.3_Missense_Mutation_p.E543K|CD163_ENST00000541972.1_Missense_Mutation_p.E531K|CD163_ENST00000432237.2_Missense_Mutation_p.E543K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	543	SRCR 5.				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						TGGAATTCTTCAGCCCAGATC	0.537000													13	76					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45710865	45710865	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:45710865G>T	ENST00000355347.4	+	1	176	c.176G>T	c.(175-177)gGg>gTg	p.G59V	AIRE_ENST00000329347.4_Missense_Mutation_p.G59V|AIRE_ENST00000291582.5_Intron			O43918	AIRE_HUMAN	autoimmune regulator	257	HSR.				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)		CAGAGACTGGGGAGTTCAGGT	0.627000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				15	109					2.32078e-09	3.23309e-09	1	1	0
CLYBL	171425	broad.mit.edu	37	13	100543602	100543602	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:100543602G>A	ENST00000376355.3	+	7	887	c.856G>A	c.(856-858)Gac>Aac	p.D286N	CLYBL_ENST00000339105.4_Missense_Mutation_p.D320N|CLYBL_ENST00000376360.1_Missense_Mutation_p.D320N|CLYBL_ENST00000376354.1_Missense_Mutation_p.D286N	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	320					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)					GAGTATGATCGACATGCCATT	0.438000													7	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449632	179449632	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179449632A>T	ENST00000589042.1	-	310	64960	c.64736T>A	c.(64735-64737)cTg>cAg	p.L21579Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L19011Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L12514Q|TTN_ENST00000591111.1_Missense_Mutation_p.L19938Q|TTN_ENST00000342175.6_Missense_Mutation_p.L12706Q|TTN_ENST00000359218.5_Missense_Mutation_p.L12639Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19938	Fibronectin type-III 56.						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)			GTGCCATGACAGGGAGCAAGC	0.507000													9	119					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129588365	129588365	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:129588365G>A	ENST00000421865.2	+	16	2371		c.e16+1			NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						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)		AGAATGCCTGGTAAGTGCTCT	0.498000													11	96					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132203611	132203611	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:132203611C>A	ENST00000360971.2	+	21	2247	c.2227C>A	c.(2227-2229)Cca>Aca	p.P743T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	743	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)	CCTCTCCCCACCACGTAAGTT	0.353000													13	87					7.93312e-07	1.00312e-06	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7702037	7702037	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:7702037G>T	ENST00000572933.1	+	55	10019		c.e55+1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						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)				ATTTGAAGAGGTAGGATTCCT	0.537000													8	71					0.000274275	0.000311256	1	1	0
CEACAM5	1048	broad.mit.edu	37	19	42224010	42224010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:42224010G>A	ENST00000221992.6	+	7	1768	c.1654G>A	c.(1654-1656)Ggc>Agc	p.G552S	CEACAM5_ENST00000405816.1_Missense_Mutation_p.G552S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G551S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	552	Ig-like 6.					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)		GCTGTCCAATGGCAACAGGAC	0.522000													15	154					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579989	179579989	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179579989G>T	ENST00000589042.1	-	90	26148	c.25924C>A	c.(25924-25926)Cca>Aca	p.P8642T	TTN_ENST00000342992.6_Missense_Mutation_p.P7398T|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8325T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8325	Ig-like 69.						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)			AAAATGGGTGGTTCTAAAATT	0.393000													10	62					7.48243e-07	9.52095e-07	1	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502295	90502295	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:90502295A>T	ENST00000325643.5	+	4	2959	c.2893A>T	c.(2893-2895)Agc>Tgc	p.S965C		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCCAACATGCAGCCTTGTGGG	0.602000													6	62					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143013433	143013433	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:143013433A>T	ENST00000343257.2	+	1	215	c.128A>T	c.(127-129)cAg>cTg	p.Q43L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	43					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)					GGGGGCCTCCAGCACAGGCTC	0.607000													19	89					0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155458554	155458554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155458554C>A	ENST00000499023.2	-	14	1495	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W	PLRG1_ENST00000302078.5_Missense_Mutation_p.G448W|PLRG1_ENST00000393905.2_Missense_Mutation_p.G457W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	457						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)				TCCAAAGACCCAGGTTGCACA	0.413000													12	42					0.00010058	0.000116264	1	1	0
CANX	821	broad.mit.edu	37	5	179143263	179143263	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:179143263C>G	ENST00000247461.4	+	8	1079	c.879C>G	c.(877-879)atC>atG	p.I293M	CANX_ENST00000512607.2_Missense_Mutation_p.I185M|CANX_ENST00000452673.2_Missense_Mutation_p.I293M|CANX_ENST00000504734.1_Missense_Mutation_p.I293M|CANX_ENST00000415618.2_Missense_Mutation_p.I328M	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	293	4 X approximate repeats.|P domain (Extended arm) (By similarity).				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)	GACCAAAAATCCCAGATCCAG	0.468000													12	36					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201752	21201752	+	Missense_Mutation	SNP	G	G	A	rs144032462	by1000genomes	TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:21201752G>A	ENST00000342679.4	+	2	326	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	26			R -> T.		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)		AAGGATCTACGGATATCCTGC	0.557000													19	184					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52942485	52942485	+	Splice_Site	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:52942485G>A	ENST00000267119.5	-	4	882	c.813_splice	c.e4+1	p.A271_splice		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	271	Coil 1B.|Rod.						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)		ACAGACTTACGGCTTCAAAGA	0.532000													10	87					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35517044	35517044	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:35517044G>C	ENST00000599564.1	+	20	2494	c.2423G>C	c.(2422-2424)tGa>tCa	p.*808S	GRAMD1A_ENST00000317991.5_Nonstop_Mutation_p.*725S|GRAMD1A_ENST00000504615.2_Nonstop_Mutation_p.*487S|GRAMD1A_ENST00000411896.2_Nonstop_Mutation_p.*714S			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	0						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)			AGCTTTTCCTGAGGACCCCGG	0.637000													5	34					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139317557	139317557	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:139317557G>T	ENST00000371717.3	+	13	1428	c.1419G>T	c.(1417-1419)aaG>aaT	p.K473N	PMPCA_ENST00000399219.3_Missense_Mutation_p.K342N	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	473					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCAACGTGAAGCCGGAAGATG	0.632000													8	12					3.09899e-07	3.99997e-07	1	1	0
CASKIN1	57524	broad.mit.edu	37	16	2235157	2235157	+	Silent	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:2235157C>G	ENST00000343516.6	-	12	1286	c.1194G>C	c.(1192-1194)cgG>cgC	p.R398R		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	398	CASK-binding (By similarity).				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						CCCCGCTGCCCCGGCCGCCAG	0.706000													6	19					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561303	44561303	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:44561303G>T	ENST00000332567.4	-	1	685	c.333C>A	c.(331-333)ggC>ggA	p.G111G	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	111					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						TTTCTGGGAAGCCCCAGGCCT	0.657000													12	80					1.5842e-08	2.14052e-08	1	1	0
KSR1	8844	broad.mit.edu	37	17	25904583	25904583	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:25904583G>T	ENST00000398988.3	+	4	472	c.27G>T	c.(25-27)acG>acT	p.T9T	KSR1_ENST00000509603.2_Silent_p.T146T|KSR1_ENST00000319524.6_Silent_p.T146T|KSR1_ENST00000268763.6_Silent_p.T9T	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	144					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)		TGAAGGAGACGCTGCGGCGCT	0.657000													3	16					1.024e-07	1.34974e-07	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212255	26212255	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:26212255C>A	ENST00000379034.1	+	2	441	c.292C>A	c.(292-294)Cgt>Agt	p.R98S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	98	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGCACCTCCCGTGATGCCTC	0.537000													11	49					2.27111e-07	2.94552e-07	1	1	0
OR4L1	122742	broad.mit.edu	37	14	20529067	20529067	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:20529067C>A	ENST00000315683.1	+	1	864	c.864C>A	c.(862-864)acC>acA	p.T288T		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTATTTATACCCTGAGAAATA	0.328000													5	75					2.0095e-06	2.50954e-06	1	1	0
SNRPE	6635	broad.mit.edu	37	1	203834232	203834232	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:203834232T>A	ENST00000414487.2	+	4	253	c.208T>A	c.(208-210)Tca>Aca	p.S70T	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Missense_Mutation_p.S30T	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	70					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAAAACAAAGTCAAGAAAACA	0.318000													15	86					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126655286	126655286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:126655286A>G	ENST00000359653.4	+	2	1309	c.938A>G	c.(937-939)tAt>tGt	p.Y313C		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	313					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)		GATGTTGGCTATACTCTTGTA	0.428000													10	81					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122811906	122811906	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:122811906C>T	ENST00000194130.2	-	3	320	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	SLC13A1_ENST00000539873.1_Missense_Mutation_p.C30Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	94						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)	TGTTGCTAAACAGATAACTCC	0.353000													15	87					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51052998	51052998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:51052998C>A	ENST00000442544.2	+	28	4739	c.4123C>A	c.(4123-4125)Cct>Act	p.P1375T	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1008T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1375			P -> H (in a colorectal carcinoma).		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)		GCCCACTCTTCCTAAGACCCA	0.458000													11	74					1.05317e-09	1.4851e-09	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10467442	10467442	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:10467442G>T	ENST00000382483.3	-	4	4389	c.4166C>A	c.(4165-4167)gCt>gAt	p.A1389D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1389					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)		CTCTTCAAGAGCCTCTCCTTG	0.532000													15	294					2.5808e-16	3.97955e-16	1	1	0
TRIM69	140691	broad.mit.edu	37	15	45059955	45059955	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:45059955C>T	ENST00000558173.1	+	5	5621	c.876C>T	c.(874-876)atC>atT	p.I292I	TRIM69_ENST00000559390.1_Silent_p.I496I|TRIM69_ENST00000329464.4_Silent_p.I496I|TRIM69_ENST00000338264.4_Silent_p.I337I|TRIM69_ENST00000560442.1_Silent_p.I292I|TRIM69_ENST00000561043.1_Silent_p.I259I|TRIM69_ENST00000558329.1_Silent_p.I275I			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	496					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)		CATTGCACATCTTACATCCAC	0.353000													11	59					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819313	12819313	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:12819313G>T	ENST00000379672.5	+	5	672	c.372G>T	c.(370-372)ctG>ctT	p.L124L	ARHGAP44_ENST00000262444.9_Silent_p.L124L|ARHGAP44_ENST00000340825.3_Silent_p.L124L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	124	BAR.				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						TTGAGCCCCTGTTTTTGCTGG	0.517000													5	19					0.014758	0.0154462	1	1	0
QTRTD1	79691	broad.mit.edu	37	3	113795705	113795705	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:113795705G>T	ENST00000281273.4	+	7	919	c.662G>T	c.(661-663)gGt>gTt	p.G221V	QTRTD1_ENST00000485050.1_Missense_Mutation_p.G233V|QTRTD1_ENST00000493014.1_Missense_Mutation_p.G115V|QTRTD1_ENST00000479882.1_Missense_Mutation_p.G98V	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	221					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CTTCTGGATGGTTTTCAAGGA	0.542000													8	91					0.00307968	0.00332671	1	1	0
GPR39	2863	broad.mit.edu	37	2	133174975	133174975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:133174975C>A	ENST00000329321.3	+	1	829	c.360C>A	c.(358-360)taC>taA	p.Y120*		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	50					1.49906e-05	1.79976e-05	1	1	0
PRR4	11272	broad.mit.edu	37	12	10999835	10999835	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:10999835C>A	ENST00000228811.4	-	3	269	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	PRR4_ENST00000540107.1_Intron|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	78	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						CGGTGATGGCCTCCTGGTTTT	0.567000													13	246					4.36969e-10	6.20511e-10	1	1	0
ITGB3	3690	broad.mit.edu	37	17	45368460	45368460	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:45368460G>T	ENST00000571680.1	+	9	1275	c.1266G>T	c.(1264-1266)agG>agT	p.R422S	ITGB3_ENST00000559488.1_Intron|ITGB3_ENST00000560629.1_Intron|ITGB3_ENST00000435993.2_Intron			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	422					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)	ACACGGTGAGGTGGGCTGGGC	0.517000													20	85					4.96729e-08	6.56885e-08	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20618719	20618719	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:20618719C>A	ENST00000504154.1	+	35	4286	c.4034C>A	c.(4033-4035)aCa>aAa	p.T1345K	SLIT2_ENST00000273739.5_Missense_Mutation_p.T1358K|SLIT2_ENST00000503837.1_Missense_Mutation_p.T1341K|SLIT2_ENST00000503823.1_Missense_Mutation_p.T1337K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1345	EGF-like 7.				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						GCCCATGGCACATGCCAGCCC	0.577000													7	57					0.248553	0.249789	1	1	0
ZFYVE16	9765	broad.mit.edu	37	5	79743855	79743855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:79743855C>T	ENST00000338008.5	+	7	2915	c.2735C>T	c.(2734-2736)aCa>aTa	p.T912I	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.T912I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.T912I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	912					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)		ACAGTAAACACAGTGGATCAT	0.318000													5	37					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88476291	88476291	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:88476291G>T	ENST00000429277.2	+	10	1599	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	LDB3_ENST00000263066.6_Missense_Mutation_p.G370V|LDB3_ENST00000361373.4_Missense_Mutation_p.G480V|LDB3_ENST00000352360.5_Missense_Mutation_p.G223V|LDB3_ENST00000458213.2_Missense_Mutation_p.G370V	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	480						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						TACAGCGGGGGCCCTGCGGAG	0.642000													6	72					3.59834e-05	4.23827e-05	1	1	0
RBP3	5949	broad.mit.edu	37	10	48388265	48388265	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:48388265G>T	ENST00000224600.4	-	1	2726	c.2613C>A	c.(2611-2613)ccC>ccA	p.P871P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	871	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)	CTCCGGCCGTGGGCTCCCCAA	0.637000													14	29					4.93089e-13	7.35085e-13	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40419914	40419914	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:40419914G>A	ENST00000221347.6	-	6	3087	c.3080C>T	c.(3079-3081)gCc>gTc	p.A1027V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1027	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)			GTTCCCAAAGGCCAGTGCATT	0.627000													5	64					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50847190	50847190	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:50847190G>T	ENST00000404971.1	-	9	2749	c.1410C>A	c.(1408-1410)gtC>gtA	p.V470V	NRXN1_ENST00000405472.3_Silent_p.V422V|NRXN1_ENST00000401669.2_Silent_p.V430V|NRXN1_ENST00000402717.3_Silent_p.V422V|NRXN1_ENST00000406316.2_Silent_p.V430V|NRXN1_ENST00000406859.3_Silent_p.V430V|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	430	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)			AGTTGTTACTGACTGGTGACC	0.463000													8	18					3.09899e-07	3.99997e-07	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177937011	177937011	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:177937011C>G	ENST00000308284.6	-	2	195	c.106G>C	c.(106-108)Gtc>Ctc	p.V36L	SEC16B_ENST00000464631.1_Missense_Mutation_p.V36L|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.V36L|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	36	Required for endoplasmic reticulum localization.				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						GAGTGAGGGACAGGCCGATGA	0.607000													8	60					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	24					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31013752	31013752	+	Splice_Site	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:31013752G>T	ENST00000409904.3	+	4	816	c.559_splice	c.e4+1	p.W186_splice	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Splice_Site_p.W250_splice			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	250					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)	TCGCTGGCTGGGGTGAGCACT	0.627000													15	71					7.93312e-07	1.00312e-06	1	1	0
TASP1	55617	broad.mit.edu	37	20	13463984	13463984	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:13463984C>G	ENST00000337743.4	-	11	995	c.874_splice	c.e11-1	p.G292_splice	TASP1_ENST00000539805.1_Splice_Site_p.D95_splice|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	292					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						CTCTCCACATCCTAGAAATCC	0.438000													15	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659889	179659889	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:179659889C>A	ENST00000589042.1	-	7	1229	c.1005G>T	c.(1003-1005)gtG>gtT	p.V335V	TTN_ENST00000342992.6_Silent_p.V335V|TTN_ENST00000460472.2_Silent_p.V335V|TTN_ENST00000591111.1_Silent_p.V335V|TTN_ENST00000360870.5_Silent_p.V335V|TTN_ENST00000342175.6_Silent_p.V335V|TTN_ENST00000359218.5_Silent_p.V335V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	335	ZIS1.						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)			GACCTGTGGCCACGGTGGATG	0.557000													8	68					0.0381472	0.0391651	1	1	0
ENTPD6	955	broad.mit.edu	37	20	25203553	25203553	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr20:25203553G>A	ENST00000360031.2	+	12	1304	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	ENTPD6_ENST00000376652.4_Silent_p.K375K|ENTPD6_ENST00000433259.2_Silent_p.K341K|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_Silent_p.K358K	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	375						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGGAAGTGAAGCATGTGGACT	0.577000													20	110					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123596941	123596941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:123596941C>A	ENST00000336139.4	-	8	2073	c.1711G>T	c.(1711-1713)Ggg>Tgg	p.G571W	ZNF202_ENST00000529691.1_Missense_Mutation_p.G571W|ZNF202_ENST00000530393.1_Missense_Mutation_p.G571W			O95125	ZN202_HUMAN	zinc finger protein 202	571					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	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;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AAGCAGCGCCCGCACTCGCTG	0.612000													10	61					0.000442599	0.000500168	1	1	0
CBLB	868	broad.mit.edu	37	3	105456029	105456029	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:105456029T>C	ENST00000264122.4	-	8	1378	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V	CBLB_ENST00000405772.1_Missense_Mutation_p.I353V|CBLB_ENST00000394027.3_Missense_Mutation_p.I375V|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.I353V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	353	Linker.				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						GTAACTTTTATATGGTCATGA	0.299000			Mis S		AML								6	75					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4797380	4797380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:4797380G>A	ENST00000355280.6	+	22	2858	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	MINK1_ENST00000347992.7_Missense_Mutation_p.V859I|MINK1_ENST00000453408.3_Missense_Mutation_p.V868I	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	888	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						CACCATGGTGGTCCAGCGCGT	0.657000													10	34					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156083	155156083	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155156083C>T	ENST00000357232.3	-	25	8355	c.8356G>A	c.(8356-8358)Gag>Aag	p.E2786K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2786					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)		AATTTGGGCTCCCAACTAAGA	0.393000													10	96					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44929078	44929078	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:44929078G>T	ENST00000377967.4	+	17	2219	c.2178G>T	c.(2176-2178)acG>acT	p.T726T	KDM6A_ENST00000543216.1_Silent_p.T647T|KDM6A_ENST00000536777.1_Silent_p.T681T|KDM6A_ENST00000382899.4_Silent_p.T733T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	726			T -> K (in dbSNP:rs2230018).		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)		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						ACATATTGACGGTGCCTGAAA	0.507000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								3	21					0.004672	0.00498676	1	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12855707	12855707	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:12855707C>T	ENST00000332296.7	+	4	1090	c.987C>T	c.(985-987)taC>taT	p.Y329Y	PRAMEF1_ENST00000400814.3_Silent_p.Y84Y	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	329										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)		ATCTCAGCTACGTGCTGCTGT	0.488000													9	166					0	0	1	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709079	38709079	+	RNA	SNP	C	C	T	rs111340107		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:38709079C>T	ENST00000417039.1	-	0	696																											AATGTTTCATCGTGGGAGCAG	0.537000													6	44					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13414638	13414638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:13414638C>T	ENST00000360228.5	-	16	2046	c.2047G>A	c.(2047-2049)Gtg>Atg	p.V683M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V684M	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	684					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)	CCGCCCTGCACGCCCCCCTGA	0.557000													26	128					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166744891	166744891	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:166744891G>C	ENST00000243344.7	-	25	3494	c.3357C>G	c.(3355-3357)caC>caG	p.H1119Q	TTC21B_ENST00000536175.1_Missense_Mutation_p.H57Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1119						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						GAAGCTGTACGTGACCCTGAA	0.378000													11	37					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31283464	31283464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr22:31283464C>T	ENST00000332585.6	+	4	1263	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	OSBP2_ENST00000403222.3_Missense_Mutation_p.R222W|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.R387W|OSBP2_ENST00000446658.2_Missense_Mutation_p.R387W|OSBP2_ENST00000407373.1_Missense_Mutation_p.R214W|OSBP2_ENST00000437268.2_Missense_Mutation_p.R129W|OSBP2_ENST00000401475.1_Missense_Mutation_p.R21W	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	387					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						GAAATGGCAGCGGGCACTGCA	0.622000													13	76					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164628	139164628	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:139164628C>A	ENST00000395297.1	-	13	2260	c.2090G>T	c.(2089-2091)tGg>tTg	p.W697L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	697										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)			GGCCTCTGACCAGGCGACGGA	0.557000										HNSCC(54;0.14)			14	48					1.41608e-15	2.17114e-15	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38237740	38237740	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:38237740G>T	ENST00000379705.3	-	6	2358	c.1501C>A	c.(1501-1503)Cac>Aac	p.H501N	TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.H501N|TRPC4_ENST00000338947.5_Missense_Mutation_p.H328N|TRPC4_ENST00000379679.1_Missense_Mutation_p.H328N|TRPC4_ENST00000447043.1_Missense_Mutation_p.H501N|TRPC4_ENST00000379673.2_Missense_Mutation_p.H501N|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.H501N|TRPC4_ENST00000358477.2_Missense_Mutation_p.H501N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	501					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)		GGTCCCAGGTGAGAATTTGCA	0.443000													9	49					1.12685e-05	1.36711e-05	1	1	0
LRRC18	474354	broad.mit.edu	37	10	50121750	50121750	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:50121750G>T	ENST00000374160.3	-	1	527	c.451C>A	c.(451-453)Ctc>Atc	p.L151I	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.L151I|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	151						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTGTCATGGAGCCCTACCTCG	0.557000													3	21					0.115264	0.117444	1	1	0
DSEL	92126	broad.mit.edu	37	18	65180863	65180863	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:65180863C>A	ENST00000310045.7	-	2	2486	c.1013G>T	c.(1012-1014)gGt>gTt	p.G338V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	328						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)				ATCTGCTATACCCACAGTTCT	0.373000													11	74					0.000978159	0.00108714	1	1	0
PRR23B	389151	broad.mit.edu	37	3	138738769	138738769	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr3:138738769G>A	ENST00000329447.5	-	1	999	c.735C>T	c.(733-735)caC>caT	p.H245H	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	245	Pro-rich.							p.H245Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGCGCGCGTGGGGACCTG	0.667000													9	54					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084547	248084547	+	Silent	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:248084547G>T	ENST00000319968.4	+	1	228	c.228G>T	c.(226-228)gtG>gtT	p.V76V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACCACTGTGCCCAAAATGG	0.577000													22	165					1.68575e-08	2.27394e-08	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106772047	106772047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr12:106772047G>A	ENST00000228347.4	+	8	721	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	POLR3B_ENST00000539066.1_Missense_Mutation_p.G109S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	167					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						TTGGGTAGGTGGCTACTTCAT	0.388000													16	70					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761531	55761531	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55761531C>A	ENST00000278409.1	-	1	570	c.571G>T	c.(571-573)Gac>Tac	p.D191Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	191					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)					AGGATTGTGTCAGAACAAGAG	0.458000													13	65					7.03913e-09	9.65639e-09	1	1	0
ERP44	23071	broad.mit.edu	37	9	102784415	102784415	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr9:102784415C>G	ENST00000262455.6	-	5	579	c.380G>C	c.(379-381)cGa>cCa	p.R127P		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	127	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TTTCACTGATCGCTGACCCCT	0.418000													23	127					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214112	140214112	+	Silent	SNP	C	C	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140214112C>T	ENST00000525929.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.I48I	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)			TGGGCCGCATCGCGCAGGACC	0.597000													15	117					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761194	55761194	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:55761194T>A	ENST00000278409.1	-	1	907	c.908A>T	c.(907-909)aAt>aTt	p.N303I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	303					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)					GCTAATTACATTCGCTAAAGC	0.383000													4	44					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92935314	92935314	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:92935314G>T	ENST00000544910.1	+	19	1757	c.1537G>T	c.(1537-1539)Ggg>Tgg	p.G513W	CCDC132_ENST00000305866.5_Missense_Mutation_p.G543W|CCDC132_ENST00000535481.1_Missense_Mutation_p.G263W|CCDC132_ENST00000541136.1_Missense_Mutation_p.G354W|CCDC132_ENST00000317751.6_Missense_Mutation_p.G274W	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	543										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)			AGCTTCTAATGGGGTATGTGG	0.358000													21	87					1.2644e-06	1.59631e-06	1	1	0
DHX32	55760	broad.mit.edu	37	10	127525408	127525408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:127525408G>A	ENST00000284690.3	-	11	2570	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.P318S|DHX32_ENST00000284688.6_Missense_Mutation_p.P613S|BCCIP_ENST00000299130.3_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	694						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)				TAGTATTGTGGTACCAGCTGC	0.408000													4	30					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745493	77745493	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:77745493T>A	ENST00000409088.3	-	3	1916	c.1502A>T	c.(1501-1503)aAt>aTt	p.N501I	LRRTM4_ENST00000409884.1_Missense_Mutation_p.N501I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.N501I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.N502I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N502I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	501						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)		CCCAGATCCATTAACCGATAT	0.453000													7	29					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144903949	144903949	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:144903949G>A	ENST00000370490.1	+	1	4261	c.6G>A	c.(4-6)ctG>ctA	p.L2L	SLITRK2_ENST00000413937.2_Silent_p.L2L|SLITRK2_ENST00000434188.2_Silent_p.L2L|SLITRK2_ENST00000447897.2_Silent_p.L2L|SLITRK2_ENST00000428560.2_Silent_p.L2L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	2						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGATGCTGAGCGGCGTTT	0.537000													4	16					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239484	3239484	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:3239484C>A	ENST00000217939.6	-	5	4396	c.4242G>T	c.(4240-4242)gaG>gaT	p.E1414D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1414						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)				AATCCACATCCTCAAGCTCTT	0.488000													20	26					5.35267e-07	6.86501e-07	1	1	0
MUC17	140453	broad.mit.edu	37	7	100679319	100679319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:100679319C>A	ENST00000306151.4	+	3	4686	c.4622C>A	c.(4621-4623)aCc>aAc	p.T1541N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1541	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)					CCTGCTGTCACCAGCACACCT	0.478000													20	281					5.03518e-11	7.27805e-11	1	1	0
FMN2	56776	broad.mit.edu	37	1	240255953	240255953	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:240255953G>T	ENST00000319653.9	+	1	774	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	182					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	p.D325Y(1)		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)			CTCGGACACGGACATCTATAG	0.632000													5	74					0.014758	0.0154462	1	1	0
HECW2	57520	broad.mit.edu	37	2	197208390	197208390	+	Translation_Start_Site	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:197208390A>C	ENST00000409111.1	-	0	509				HECW2_ENST00000260983.2_Missense_Mutation_p.F131V			Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						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						CGTTCCATGAAATAGGGCCCA	0.363000													14	182					0	0	1	0	0
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304613	66304613	+	RNA	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:66304613G>T	ENST00000457166.1	-	0	192					NR_003934.1																						GGTTGGTGACGGGTCTGAAGA	0.532000													7	28					0.0293803	0.0303184	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38344245	38344245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:38344245C>A	ENST00000374618.3	+	5	1371	c.1193C>A	c.(1192-1194)tCa>tAa	p.S398*	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.S397*|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.S404*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.S397*	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	397						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						AGCCATAAGTCAGCCCTCACA	0.423000													6	55					8.12818e-05	9.40913e-05	1	1	0
KLK15	55554	broad.mit.edu	37	19	51330362	51330362	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:51330362G>T	ENST00000326856.4	-	4	379	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	KLK15_ENST00000598239.1_Missense_Mutation_p.Q85K|KLK15_ENST00000596931.1_Missense_Mutation_p.Q84K|KLK15_ENST00000416184.1_Missense_Mutation_p.Q85K|KLK15_ENST00000301421.2_Missense_Mutation_p.Q85K	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	85	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTCCGTAGTTGCTCTGGGCCA	0.652000													8	86					0.000673444	0.000750542	1	1	0
NMRK2	27231	broad.mit.edu	37	19	3938600	3938600	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:3938600G>C	ENST00000168977.2	+	5	456		c.e5-1		NMRK2_ENST00000593949.1_Splice_Site|NMRK2_ENST00000599576.1_Splice_Site	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		CCTTTCCCCAGTGCTGGAGTC	0.682000													6	24					0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647292	125647292	+	Silent	SNP	G	G	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:125647292G>A	ENST00000358524.3	-	4	372	c.327C>T	c.(325-327)ctC>ctT	p.L109L	PATE2_ENST00000436890.2_Silent_p.L66L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	109						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CTCCCTCAGGGAGGTTGCAGT	0.458000													11	52					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186062643	186062643	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:186062643A>C	ENST00000271588.4	+	66	10267	c.10038A>C	c.(10036-10038)aaA>aaC	p.K3346N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3346N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3346	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						GGGGTAATAAAGATGAAGCAG	0.378000													13	114					0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124670188	124670188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:124670188C>A	ENST00000239614.4	-	1	381	c.89G>T	c.(88-90)gGc>gTc	p.G30V	MSANTD2_ENST00000374979.3_Missense_Mutation_p.G30V|MSANTD2_ENST00000524950.1_Missense_Mutation_p.G30V	NM_024631.2	NP_078907.2	Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	30	Gly-rich.																GTCGCTCAGGCCACCAGGAGA	0.697000													4	16					1.024e-07	1.34974e-07	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75650600	75650600	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:75650600G>T	ENST00000361470.2	+	1	2555	c.2277G>T	c.(2275-2277)atG>atT	p.M759I		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	759	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						TTCTGCTTATGGATTCAACTA	0.478000													18	42					9.16793e-09	1.24709e-08	1	1	0
CEP112	201134	broad.mit.edu	37	17	64059127	64059127	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:64059127A>G	ENST00000392769.2	-	11	1246	c.1028T>C	c.(1027-1029)aTa>aCa	p.I343T	CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.I343T|CEP112_ENST00000537949.1_Missense_Mutation_p.I301T	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	343						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						TTGTTCACATATCTTTTTCAG	0.323000													8	29					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996140	140996140	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:140996140T>A	ENST00000285879.4	+	4	3236	c.2950T>A	c.(2950-2952)Tct>Act	p.S984T	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S51T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	984	MAGE.						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)					AGACCTCACCTCTGAGGGGTG	0.478000										HNSCC(15;0.026)			23	85					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17283670	17283670	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:17283670G>T	ENST00000595618.1	+	13	2190	c.2038G>T	c.(2038-2040)Gtg>Ttg	p.V680L	MYO9B_ENST00000594824.1_Missense_Mutation_p.V680L|MYO9B_ENST00000397274.2_Missense_Mutation_p.V680L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	680	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						CATGGACCCCGTGGCCGTGTT	0.687000													11	57					3.07112e-06	3.81764e-06	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24921062	24921062	+	Silent	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:24921062C>A	ENST00000329468.2	+	1	522	c.48C>A	c.(46-48)ccC>ccA	p.P16P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCCGCCGGCCCCTGCCAGGGC	0.672000													4	11					0.00024832	0.000283794	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113318349	113318349	+	Missense_Mutation	SNP	C	C	A	rs143305992		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr8:113318349C>A	ENST00000297405.5	-	51	8202	c.7958G>T	c.(7957-7959)cGa>cTa	p.R2653L	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2613L|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2549L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2583L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2653	Sushi 15.					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						ATAGGTAACTCGCGTTCCTAC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	61					1.15088e-07	1.50471e-07	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157665964	157665964	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:157665964C>A	ENST00000368184.3	-	7	1289	c.998G>T	c.(997-999)aGa>aTa	p.R333I	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.R333I|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	333	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGGGTCTTTCTACCCAGGCT	0.502000													11	81					9.70103e-10	1.37516e-09	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106545637	106545637	+	Silent	SNP	A	A	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:106545637A>C	ENST00000359195.3	+	11	3424	c.3114A>C	c.(3112-3114)ggA>ggC	p.G1038G	PIK3CG_ENST00000496166.1_Silent_p.G1038G|PIK3CG_ENST00000440650.2_Silent_p.G1038G	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1038	PI3K/PI4K.				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						TGATGACAGGAATGCCCCAGT	0.423000													20	113					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131464	142131464	+	RNA	SNP	C	C	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:142131464C>A	ENST00000390375.2	-	0	331																											ACAAGGCGTTCACATTCAGCT	0.493000													10	98					3.86212e-05	4.52916e-05	1	1	0
CALM2	805	broad.mit.edu	37	2	47389768	47389768	+	Missense_Mutation	SNP	T	T	C	rs11551457		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:47389768T>C	ENST00000272298.7	-	3	225	c.68A>G	c.(67-69)gAt>gGt	p.D23G	CALM2_ENST00000422269.1_Intron|CALM2_ENST00000409563.1_Missense_Mutation_p.D70G	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	23	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TCCATCACCATCTTTGTCAAA	0.338000													9	56					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048654	42048654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:42048654delC	ENST00000372584.1	-	3	2829	c.1815delG	c.(1813-1815)gafs	p.E605fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E605fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.E605fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E605fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	605	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				TTGGGCCAGGCTCCTCAGAAC	0.552													20	101	---	---	---	---					
CD46	4179	broad.mit.edu	37	1	207963626	207963627	+	Frame_Shift_Ins	INS	-	-	AAGT	rs138502920		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:207963626_207963627insAAGT	ENST00000358170.2	+	13	1312_1313	c.1156_1157insAAGT	c.(1156-1158)agtfs	p.S386fs	CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Intron|CD46_ENST00000469535.1_Intron|CD46_ENST00000354848.1_Intron|CD46_ENST00000367041.1_Frame_Shift_Ins_p.S356fs|CD46_ENST00000357714.1_Intron|CD46_ENST00000360212.2_Intron|CD46_ENST00000361067.1_Intron|CD46_ENST00000480003.1_Intron|CD46_ENST00000367042.1_Frame_Shift_Ins_p.S371fs|CD46_ENST00000367047.1_Intron|CD46_ENST00000322918.5_Intron	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	386					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						GACCCACAGAGAAGTAAAATTT	0.351													7	55	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232619601	232619624	+	In_Frame_Del	DEL	GATCAAGGAATTCTTCAAAAGCTG	GATCAAGGAATTCTTCAAAAGCTG	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr1:232619601_232619624delGATCAAGGAATTCTTCAAAAGCTG	ENST00000366630.1	-	5	2253_2276	c.1895_1918delCAGCTTTTGAAGAATTCCTTGATC	c.(1894-1920)ctt>c	p.PAFEEFLDL632del	SIPA1L2_ENST00000262861.4_In_Frame_Del_p.PAFEEFLDL632del			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	632	Rap-GAP.				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)				TGGCCCAGAAGATCAAGGAATTCTTCAAAAGCTGGTCCCGCCGT	0.433													7	84	---	---	---	---					
MERTK	10461	broad.mit.edu	37	2	112786315	112786315	+	Frame_Shift_Del	DEL	G	G	-	rs144406499		TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:112786315delG	ENST00000295408.4	+	19	3131	c.2874delG	c.(2872-2874)ccfs	p.P958fs	MERTK_ENST00000421804.2_Frame_Shift_Del_p.P958fs|MERTK_ENST00000409780.1_Frame_Shift_Del_p.P782fs			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	958					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						GTGTTTTACCGGGGGAGAGAC	0.527													7	65	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163374654	163374655	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr2:163374654_163374655insC	ENST00000332142.5	-	4	576_577	c.477_478insG	c.(475-480)ggtcaafs	p.Q160fs	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Frame_Shift_Ins_p.Q160fs	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	160					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)	GGGAATTTGAACCCAAAAAATT	0.376													9	65	---	---	---	---					
GABRA2	2555	broad.mit.edu	37	4	46252503	46252504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:46252503_46252504insT	ENST00000510861.1	-	10	1350_1351	c.1177_1178insA	c.(1177-1179)gccfs	p.A393fs	GABRA2_ENST00000356504.1_Frame_Shift_Ins_p.A393fs|GABRA2_ENST00000514090.1_Frame_Shift_Ins_p.A393fs|GABRA2_ENST00000507069.1_Frame_Shift_Ins_p.A453fs|GABRA2_ENST00000381620.4_Frame_Shift_Ins_p.A393fs|GABRA2_ENST00000540012.1_Frame_Shift_Ins_p.A398fs			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	393					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T393M(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGGTTCTGGCGTGGTTGCACTC	0.431													27	154	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526059	155526059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:155526059delC	ENST00000404648.3	-	9	1528	c.1289delG	c.(1288-1290)gafs	p.G430fs	FGG_ENST00000336098.3_Frame_Shift_Del_p.G430fs|FGG_ENST00000407946.1_Frame_Shift_Del_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Del_p.G438fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTTTGGCTCCCCCCAGGTG	0.448													11	131	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187534479	187534479	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr4:187534479delT	ENST00000441802.2	-	13	9456	c.9247delA	c.(9247-9249)ccfs	p.T3083fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3083	Cadherin 28.				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						TCAAGGGGGGTTGACGTTTTC	0.443										HNSCC(5;0.00058)			10	37	---	---	---	---					
GOLPH3	64083	broad.mit.edu	37	5	32126485	32126486	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:32126485_32126486delGA	ENST00000265070.6	-	4	1044_1045	c.729_730delTC	c.(727-732)gcatfs	p.AH243fs		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	243					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			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TCCGAGGCATGAGCCAGGTAAA	0.540													18	84	---	---	---	---					
PCDHA4	56144	broad.mit.edu	37	5	140187595	140187595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140187595delG	ENST00000530339.1	+	1	823	c.823delG	c.(823-825)ggfs	p.G275fs	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Frame_Shift_Del_p.G275fs|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Frame_Shift_Del_p.G275fs|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATTGAATGGGGACATTGT	0.318													12	79	---	---	---	---					
PCDHA6	56142	broad.mit.edu	37	5	140208346	140208346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr5:140208346delG	ENST00000529310.1	+	1	784	c.670delG	c.(670-672)gcfs	p.G224fs	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Frame_Shift_Del_p.G224fs|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_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)			TGAGCTCACAGGCACTGTTCA	0.453													7	79	---	---	---	---					
T	6862	broad.mit.edu	37	6	166571936	166571936	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr6:166571936delG	ENST00000296946.2	-	9	1643	c.1175delC	c.(1174-1176)ggfs	p.A392fs	T_ENST00000366871.3_Frame_Shift_Del_p.A334fs	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	392					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAAGAGGGCGCCGAGACCGG	0.711									Chordoma, Familial Clustering of				9	70	---	---	---	---					
PPP1R9A	55607	broad.mit.edu	37	7	94540395	94540395	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:94540395delC	ENST00000289495.5	+	1	1186	c.970delC	c.(970-972)ctfs	p.P324fs	PPP1R9A_ENST00000433360.1_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000456331.2_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000340694.4_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000433881.1_Frame_Shift_Del_p.P324fs|PPP1R9A_ENST00000424654.1_Frame_Shift_Del_p.P324fs	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	324						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)			TCCTGAAGAACCTTGTGCTGA	0.483										HNSCC(28;0.073)			9	51	---	---	---	---					
PPP1R3A	5506	broad.mit.edu	37	7	113518278	113518278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:113518278delT	ENST00000284601.3	-	4	2937	c.2869delA	c.(2869-2871)cafs	p.T957fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	957					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						ATTTCTCTTGTTGAATTACAA	0.388													7	88	---	---	---	---					
TFEC	22797	broad.mit.edu	37	7	115580669	115580669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr7:115580669delG	ENST00000265440.7	-	8	1160	c.980delC	c.(979-981)ctfs	p.P327fs	TFEC_ENST00000457268.1_Frame_Shift_Del_p.P260fs|TFEC_ENST00000320239.7_Frame_Shift_Del_p.P298fs|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	327	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GGAAACTGCAGGGGAAGTGGC	0.408													22	109	---	---	---	---					
UROS	7390	broad.mit.edu	37	10	127505020	127505020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr10:127505020delC	ENST00000368778.3	-	2	242	c.49delG	c.(49-51)atfs	p.D17fs	UROS_ENST00000368797.4_Frame_Shift_Del_p.D17fs|UROS_ENST00000368786.1_Frame_Shift_Del_p.D17fs|UROS_ENST00000368774.1_Frame_Shift_Del_p.D17fs			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	17					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)				ATATACGGATCCTGGCCACAG	0.502													7	66	---	---	---	---					
OR5B12	390191	broad.mit.edu	37	11	58207293	58207293	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:58207293delA	ENST00000302572.2	-	1	353	c.332delT	c.(331-333)tcfs	p.F111fs		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCCAGGAGGAAACTTTCTGC	0.438													22	93	---	---	---	---					
MAP3K11	4296	broad.mit.edu	37	11	65367018	65367019	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr11:65367018_65367019delGC	ENST00000309100.3	-	9	2537_2538	c.2052_2053delGC	c.(2050-2055)gcccfs	p.AP684fs	MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.AP427fs|MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.AP100fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	684	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						GTCGGGCAGGGCGCGGGCGTTG	0.738													13	67	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr13:52857402delA	ENST00000451298.1	-	0	303				RP11-64P12.8_ENST00000606031.1_RNA																							ACTTAACGTCAAAAAAAATGT	0.289													4	9	---	---	---	---					
KLHL28	54813	broad.mit.edu	37	14	45414972	45414973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:45414972_45414973insA	ENST00000396128.4	-	2	278_279	c.159_160insT	c.(157-162)ctccagfs	p.Q54fs	KLHL28_ENST00000355081.2_Frame_Shift_Ins_p.Q68fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	54	BTB.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTGACGCTGGCAAGTACCACTT	0.426													11	97	---	---	---	---					
IGHV3-48	28424	broad.mit.edu	37	14	106993999	106993999	+	RNA	DEL	C	C	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr14:106993999delC	ENST00000390624.2	-	0	244																											GCCTGGCGGACCCAGTTCATG	0.552													37	238	---	---	---	---					
ACAN	176	broad.mit.edu	37	15	89391196	89391197	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr15:89391196_89391197insG	ENST00000439576.2	+	9	2033_2034	c.1659_1660insG	c.(1657-1662)ccgggtfs	p.PG553fs	ACAN_ENST00000558207.1_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000352105.7_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000561243.1_Frame_Shift_Ins_p.PG553fs|ACAN_ENST00000559004.1_Frame_Shift_Ins_p.PG553fs	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	553					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)			ACAGCAGCCCAGGGGTCAGGAC	0.574													12	104	---	---	---	---					
MGRN1	23295	broad.mit.edu	37	16	4707252	4707253	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr16:4707252_4707253insC	ENST00000399577.5	+	5	542_543	c.449_450insC	c.(448-450)accfs	p.T150fs	MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.T150fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.T150fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	150					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TGCAGATACAGCCCCAAGAGCC	0.629													7	82	---	---	---	---					
GHDC	84514	broad.mit.edu	37	17	40342251	40342251	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:40342251delA	ENST00000301671.8	-	8	1767	c.1326delT	c.(1324-1326)ttfs	p.F442fs	GHDC_ENST00000428494.2_Frame_Shift_Del_p.F403fs|GHDC_ENST00000436923.2_Frame_Shift_Del_p.L472fs|GHDC_ENST00000414034.3_Frame_Shift_Del_p.L472fs|GHDC_ENST00000593209.1_Frame_Shift_Del_p.F442fs|GHDC_ENST00000587427.1_Frame_Shift_Del_p.F442fs			Q8N2G8	GHDC_HUMAN	GH3 domain containing	442						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCAGCGCCACAAACACCTCGT	0.547													14	169	---	---	---	---					
PHOSPHO1	162466	broad.mit.edu	37	17	47302390	47302392	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr17:47302390_47302392delAGG	ENST00000413580.1	-	3	512_514	c.95_97delCCT	c.(94-99)tgc>t	p.SC32del	PHOSPHO1_ENST00000310544.4_Intron|PHOSPHO1_ENST00000514112.1_In_Frame_Del_p.SC32del	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	0					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ggagagcagcaggaggaggagga	0.700													2	4	---	---	---	---					
KDSR	2531	broad.mit.edu	37	18	61018124	61018125	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr18:61018124_61018125insA	ENST00000406396.3	-	6	996_997	c.605_606insT	c.(604-606)agafs	p.R202fs	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	202					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTTTTACCTCCATCTGCAAAGC	0.406													27	111	---	---	---	---					
PEG3	5178	broad.mit.edu	37	19	57328519	57328519	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr19:57328519delG	ENST00000326441.9	-	10	1654	c.1291delC	c.(1291-1293)tgfs	p.L431fs	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.L307fs|PEG3_ENST00000593695.1_Frame_Shift_Del_p.L305fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.L431fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	431					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)		AGGCTGCTCAGGCTGCTCACG	0.512													28	172	---	---	---	---					
NCAM2	4685	broad.mit.edu	37	21	22656613	22656613	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chr21:22656613delG	ENST00000400546.1	+	3	479	c.230delG	c.(229-231)cgfs	p.R77fs	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Del_p.R102fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	77	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTTAGGTCACGGTTAACCATC	0.398													12	46	---	---	---	---					
ERCC6L	54821	broad.mit.edu	37	X	71424931	71424932	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:71424931_71424932insT	ENST00000373657.1	-	3	3918_3919	c.3316_3317insA	c.(3316-3318)aaafs	p.K1106fs	ERCC6L_ENST00000334463.3_Frame_Shift_Ins_p.K1229fs|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1229					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)					TGCACTTTTTATGTCAAGCGCT	0.347													12	26	---	---	---	---					
MAGEA4	4103	broad.mit.edu	37	X	151092158	151092159	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A45W-01A-11D-A25D-08	TCGA-CV-A45W-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20f83cb-3594-47a2-8675-5546b0627827	73b0b94b-adb6-4693-953e-418c1e9b56e1	g.chrX:151092158_151092159insA	ENST00000370340.3	+	3	289_290	c.22_23insA	c.(22-24)gcafs	p.A8fs	MAGEA4_ENST00000393920.1_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000276344.2_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000370337.4_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000360243.2_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000370335.1_Frame_Shift_Ins_p.A8fs|MAGEA4_ENST00000393921.1_Frame_Shift_Ins_p.A8fs			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	8							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)					GCAGAAGAGTCAGCACTGCAAG	0.609													13	36	---	---	---	---