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
LACE1	246269	broad.mit.edu	37	6	108616316	108616316	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:108616316G>T	ENST00000368977.4	+	1	219	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	11							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGGTTACCCTGCGCCCCTTAG	0.617000													24	23					2.21704e-12	3.21255e-12	1	1	0
LRRC4	64101	broad.mit.edu	37	7	127670418	127670418	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:127670418G>A	ENST00000249363.3	-	2	533	c.276C>T	c.(274-276)gcC>gcT	p.A92A	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	92						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGAAGGTGTCGGCCTGGATCA	0.637000													16	108					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48715952	48715952	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:48715952G>C	ENST00000314191.2	-	71	9890	c.9834C>G	c.(9832-9834)agC>agG	p.S3278R	PRKDC_ENST00000338368.3_Missense_Mutation_p.S3278R|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3279	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGCGGCAGTAGCTCTGCACCC	0.512000								Non-homologous end-joining					16	151					0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58506881	58506881	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:58506881G>T	ENST00000269127.4	+	5	672	c.588G>T	c.(586-588)ctG>ctT	p.L196L		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	196										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GGAGCCCCCTGCCTGGGCAGC	0.592000													10	61					2.27111e-07	2.83651e-07	1	1	0
RP11-93K22.13	0	broad.mit.edu	37	3	129810184	129810184	+	RNA	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:129810184T>C	ENST00000514010.1	-	0	248				ALG1L2_ENST00000507643.1_RNA																							TTCATGAAGCTGGGCAGCACG	0.607000													5	51					0	0	1	0	0
TMEM91	641649	broad.mit.edu	37	19	41889651	41889651	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:41889651A>G	ENST00000392002.2	+	4	1052	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000544232.1_Intron	NM_001098821.1	NP_001092291.1			transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGGACATCCAGGGGGCAGGG	0.706000													5	59					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166651	72166651	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:72166651C>A	ENST00000537465.1	-	10	1601	c.1443G>T	c.(1441-1443)ctG>ctT	p.L481L	PMFBP1_ENST00000355636.6_Silent_p.L336L|PMFBP1_ENST00000237353.10_Silent_p.L481L			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	481										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCTCACCAGCCAGCCTCTCCT	0.612000													9	69					1.76689e-08	2.28815e-08	1	1	0
ANKRD42	338699	broad.mit.edu	37	11	82905737	82905737	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:82905737C>T	ENST00000393389.3	+	1	957	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	ANKRD42_ENST00000533342.1_Missense_Mutation_p.P9S|ANKRD42_ENST00000531895.1_Missense_Mutation_p.P9S|ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000393392.2_Missense_Mutation_p.P9S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.P9S|ANKRD42_ENST00000526731.1_Missense_Mutation_p.P9S			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	9										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CAATTCAGGCCCCTCCACTTC	0.587000													4	51					0	0	1	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324141	39324141	+	Missense_Mutation	SNP	C	C	A	rs66489415		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:39324141C>A	ENST00000391356.2	-	1	283	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	95	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGTGGTCCTgcagcagctggg	0.617000													3	18					0.004672	0.00496296	1	1	0
PABPC4	8761	broad.mit.edu	37	1	40028026	40028026	+	Silent	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:40028026T>A	ENST00000372857.3	-	13	2475	c.1683A>T	c.(1681-1683)gcA>gcT	p.A561A	PABPC4_ENST00000372858.3_Silent_p.A577A|PABPC4_ENST00000372856.3_Silent_p.A548A|PABPC4_ENST00000372862.3_Silent_p.A532A	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	561	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGGGGGTGCTGCAGCCAGCA	0.617000													29	53					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211158	59211158	+	Nonsense_Mutation	SNP	G	G	T	rs140829988		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:59211158G>T	ENST00000302030.2	+	1	542	c.517G>T	c.(517-519)Gga>Tga	p.G173*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TCACTTTTGCGGACCCAACAT	0.547000													107	197					1.38358e-46	2.54152e-46	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87170775	87170775	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:87170775A>T	ENST00000265724.3	-	19	2634	c.2217T>A	c.(2215-2217)ttT>ttA	p.F739L	ABCB1_ENST00000543898.1_Missense_Mutation_p.F675L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	739	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAATTCTTGTAAAAACCTGTG	0.363000													10	51					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666461	20666461	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:20666461C>A	ENST00000357366.3	+	1	967	c.967C>A	c.(967-969)Ctt>Att	p.L323I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		taccccactgcttaaccctgt	0.398000													16	128					4.14922e-12	5.96887e-12	1	1	0
DRD5	1816	broad.mit.edu	37	4	9783854	9783854	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:9783854G>T	ENST00000304374.2	+	1	597	c.201G>T	c.(199-201)cgG>cgT	p.R67R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	67					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCATCGTGCGGAGCCGCCACC	0.647000													29	45					2.65835e-16	4.32434e-16	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123087193	123087193	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:123087193G>T	ENST00000333479.7	+	46	4908	c.4731G>T	c.(4729-4731)ttG>ttT	p.L1577F	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.L2F|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1577					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGTATATGTTGGAACATGTCA	0.358000													19	22					5.26018e-13	7.81176e-13	1	1	0
TMEM9B	56674	broad.mit.edu	37	11	8970008	8970008	+	Silent	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:8970008A>G	ENST00000534025.1	-	5	915	c.456T>C	c.(454-456)ttT>ttC	p.F152F	TMEM9B_ENST00000525069.1_Silent_p.F78F|TMEM9B_ENST00000309134.5_Silent_p.F78F	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	152					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GTGCATTTGCAAAAGGCTGGT	0.507000													5	75					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55447766	55447766	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:55447766C>T	ENST00000446217.1	-	8	2649	c.2247G>A	c.(2245-2247)cgG>cgA	p.R749R	NLRP7_ENST00000448121.2_Silent_p.R693R|NLRP7_ENST00000328092.5_Silent_p.R693R|NLRP7_ENST00000340844.2_Silent_p.R721R|NLRP7_ENST00000592784.1_Silent_p.R721R|NLRP7_ENST00000590030.1_Silent_p.R721R|NLRP7_ENST00000588756.1_Silent_p.R721R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	721							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACAGAAGTCCCGGTACGCGG	0.507000													8	45					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13753406	13753406	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:13753406G>A	ENST00000340096.6	+	2	379	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	OFD1_ENST00000380550.3_Missense_Mutation_p.E18K|OFD1_ENST00000398395.3_Missense_Mutation_p.E18K|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_5'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	18					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAGTCAAGATGAACTGCGCAA	0.443000													25	72					0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19174127	19174127	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:19174127G>A	ENST00000446113.2	+	8	890	c.769G>A	c.(769-771)Gct>Act	p.A257T	ZDHHC13_ENST00000532812.1_3'UTR|ZDHHC13_ENST00000399351.3_Missense_Mutation_p.A127T	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	257					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TCTTGATATGGCTCTACAAAA	0.323000													3	37					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64017568	64017568	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:64017568G>A	ENST00000443617.2	-	18	3578	c.3491C>T	c.(3490-3492)cCa>cTa	p.P1164L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1164					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGTTCCTCTGGAGACACAGG	0.502000													29	51					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32185835	32185835	+	Missense_Mutation	SNP	G	G	T	rs138825503		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:32185835G>T	ENST00000375023.3	-	9	1699	c.1561C>A	c.(1561-1563)Ccc>Acc	p.P521T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	521	EGF-like 13; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTCAGGCAGGGAGCTGAGGCA	0.627000													7	32					1.76689e-08	2.28815e-08	1	1	0
LTK	4058	broad.mit.edu	37	15	41798201	41798201	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:41798201G>A	ENST00000263800.6	-	12	1640	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	LTK_ENST00000355166.5_Missense_Mutation_p.A454V|LTK_ENST00000561619.1_Missense_Mutation_p.A213V|LTK_ENST00000453182.2_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	515	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		ATGGCCCAGGGCTCTGCAGGA	0.597000										TSP Lung(18;0.14)			15	101					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104089416	104089416	+	Missense_Mutation	SNP	G	G	A	rs141142013		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:104089416G>A	ENST00000388887.2	+	32	3668	c.3464G>A	c.(3463-3465)gGc>gAc	p.G1155D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1155	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATCTTCCGGGGCTACATCATT	0.507000													66	32					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708209	43708209	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:43708209G>C	ENST00000405312.3	-	2	496	c.259C>G	c.(259-261)Caa>Gaa	p.Q87E	PSG4_ENST00000244295.9_Missense_Mutation_p.Q87E|PSG4_ENST00000433626.2_Missense_Mutation_p.Q87E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	87	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATAATTCTTTGACCGTCTACT	0.428000													58	64					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40323563	40323563	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr18:40323563C>G	ENST00000326695.5	-	5	720	c.549G>C	c.(547-549)aaG>aaC	p.K183N	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	183					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGACTCCTTCTTGCGAATTT	0.408000													47	64					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844168	5844168	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:5844168G>C	ENST00000303225.6	-	3	1317	c.683C>G	c.(682-684)cCc>cGc	p.P228R	FUT3_ENST00000458379.2_Missense_Mutation_p.P228R|FUT3_ENST00000589918.1_Missense_Mutation_p.P228R|FUT3_ENST00000589620.1_Missense_Mutation_p.P228R	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	228					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTTGGGCAGGGGCTTGTGGGA	0.612000													30	51					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103324646	103324646	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:103324646C>A	ENST00000233969.2	+	12	2279	c.2137C>A	c.(2137-2139)Cgc>Agc	p.R713S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	713						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGAGCCAGGCGCTTCTTGCC	0.527000													35	129					9.62906e-15	1.51278e-14	1	1	0
ACTB	60	broad.mit.edu	37	7	5568059	5568059	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:5568059C>A	ENST00000331789.5	-	4	846	c.655G>T	c.(655-657)Gtc>Ttc	p.V219F		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	219					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TCCAGGGCGACGTAGCACAGC	0.592000													20	116					3.99206e-14	6.14242e-14	1	1	0
INSRR	3645	broad.mit.edu	37	1	156821693	156821693	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:156821693G>T	ENST00000368195.3	-	3	1324	c.928C>A	c.(928-930)Cgt>Agt	p.R310S	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	310					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCTATTACGGGTGAAGCCA	0.647000													7	56					1.06961e-07	1.35002e-07	1	1	0
FGD1	2245	broad.mit.edu	37	X	54472587	54472587	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:54472587G>A	ENST00000375135.3	-	18	3574	c.2841C>T	c.(2839-2841)gcC>gcT	p.A947A		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	947					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTTCAGCAGTGGCTCCTAAAG	0.647000													3	28					0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428269	128428269	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:128428269C>A	ENST00000465342.2	+	2	1315	c.158C>A	c.(157-159)cCa>cAa	p.P53Q	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P53Q			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	53						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GGGGTTGGGCCAGGCTCTGAG	0.677000													5	17					0.014758	0.0153493	1	1	0
UBE2A	7319	broad.mit.edu	37	X	118708684	118708684	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:118708684C>A	ENST00000371558.2	+	1	184	c.10C>A	c.(10-12)Ccg>Acg	p.P4T	UBE2A_ENST00000346330.3_Missense_Mutation_p.P4T	NM_003336.2|NM_181762.1	NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	4					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						CATGTCCACCCCGGCTCGGCG	0.721000								Rad6 pathway					3	12					0.004672	0.00496296	1	1	0
CPS1	1373	broad.mit.edu	37	2	211502540	211502540	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:211502540G>T	ENST00000233072.5	+	22	2998	c.2802G>T	c.(2800-2802)aaG>aaT	p.K934N	CPS1_ENST00000430249.2_Missense_Mutation_p.K940N|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.K483N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	934					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGAGGTTAAAGAAAAACATCC	0.468000													9	75					3.86212e-05	4.45974e-05	1	1	0
RNASE9	390443	broad.mit.edu	37	14	21025061	21025061	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:21025061G>T	ENST00000557068.1	-	4	1893	c.168C>A	c.(166-168)ccC>ccA	p.P56P	RNASE9_ENST00000556208.1_Silent_p.P61P|RNASE9_ENST00000338904.3_Silent_p.P56P|RNASE9_ENST00000555230.1_Silent_p.P56P|RNASE9_ENST00000553706.1_Silent_p.P61P|RNASE9_ENST00000557209.1_Silent_p.P61P|RNASE9_ENST00000553541.1_Silent_p.P56P|RNASE9_ENST00000554964.1_Silent_p.P56P|RNASE9_ENST00000404716.3_Silent_p.P61P|RNASE9_ENST00000429244.2_Silent_p.P56P			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	56						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTGGTCTGGCGGGCCCTGTAC	0.378000													29	83					2.12542e-12	3.10998e-12	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960381	117960381	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:117960381C>T	ENST00000310164.2	+	4	1681	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AAGAGTGGCCCCTGGCGAATA	0.502000													7	78					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47711628	47711628	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:47711628C>A	ENST00000525123.1	-	10	1916	c.1631_splice	c.e10+1	p.R544_splice	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Splice_Site_p.R544_splice|AGBL2_ENST00000357610.3_Splice_Site_p.R544_splice|AGBL2_ENST00000528244.1_Splice_Site_p.R506_splice	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	544					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						AAAGTCTCACCTTTTGATCAT	0.428000													21	26					4.96729e-08	6.33648e-08	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80735801	80735801	+	Silent	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:80735801A>T	ENST00000458043.2	+	43	5103	c.5097A>T	c.(5095-5097)atA>atT	p.I1699I	OTOGL_ENST00000547103.1_Silent_p.I1687I	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGGAAGACATAGGATTATTTA	0.353000													10	8					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5918527	5918527	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:5918527C>T	ENST00000340578.6	-	15	1510	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M	RANBP3_ENST00000439268.2_Missense_Mutation_p.V480M|RANBP3_ENST00000034275.8_Missense_Mutation_p.V417M|RANBP3_ENST00000541471.1_Missense_Mutation_p.V357M|RANBP3_ENST00000591092.1_Missense_Mutation_p.V412M	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	485	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AAGACCTTCACGCCCTGGTCC	0.622000													10	45					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45051016	45051016	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:45051016G>T	ENST00000398000.2	-	2	552	c.478C>A	c.(478-480)Ctc>Atc	p.L160I	RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.L160I|CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	160						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TCCGGCGTGAGGCGCTTGGCC	0.552000													16	136					3.45872e-05	4.00943e-05	1	1	0
HLA-G	3135	broad.mit.edu	37	6	29796363	29796363	+	Silent	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:29796363C>G	ENST00000428701.1	+	4	565	c.387C>G	c.(385-387)tcC>tcG	p.S129S	HLA-G_ENST00000376828.2_Silent_p.S134S|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Silent_p.S129S|HLA-G_ENST00000376818.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	129	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ACCTGGGGTCCGACGGACGCC	0.677000													11	197					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513354	76513354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:76513354G>T	ENST00000307431.8	+	13	2183	c.1798G>T	c.(1798-1800)Gga>Tga	p.G600*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.G552*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.G528*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.G604*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	601	Fibrinogen C-terminal.				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						TAAGCACAGAGGAAATACTTC	0.333000													31	100					1.62565e-12	2.39042e-12	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29786190	29786190	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:29786190C>T	ENST00000256062.5	-	6	1167	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	TMTC1_ENST00000539277.1_Missense_Mutation_p.V340I|TMTC1_ENST00000551659.1_Missense_Mutation_p.V402I|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.V294I|TMTC1_ENST00000552618.1_Missense_Mutation_p.V402I	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	340						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATACTGCCGACCTGCCAGTCA	0.502000													7	310					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614733	247614733	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:247614733C>G	ENST00000318749.6	-	1	575	c.552G>C	c.(550-552)gaG>gaC	p.E184D		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGGCCGGCACCTCACAGAAAA	0.592000													21	17					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79384747	79384747	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:79384747G>T	ENST00000393878.1	-	4	665	c.411C>A	c.(409-411)ccC>ccA	p.P137P	REG3A_ENST00000305165.2_Silent_p.P137P|REG3A_ENST00000409839.3_Silent_p.P137P	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	137	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						AGATGGTGGAGGGATTTCTCT	0.542000													13	144					0.0135373	0.0141785	1	1	0
PAPD7	11044	broad.mit.edu	37	5	6753016	6753016	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:6753016G>A	ENST00000230859.6	+	12	1429	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	434					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACCGACCCTAGGGGTTGCTCC	0.537000													5	101					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627124	29627124	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:29627124C>A	ENST00000376894.4	+	2	235	c.117C>A	c.(115-117)caC>caA	p.H39Q	MOG_ENST00000396701.2_Missense_Mutation_p.H39Q|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.H39Q|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.H39Q|MOG_ENST00000376891.4_Missense_Mutation_p.H39Q|MOG_ENST00000533330.2_Missense_Mutation_p.H39Q|MOG_ENST00000494692.1_Missense_Mutation_p.H39Q|MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.H39Q|MOG_ENST00000431798.2_Missense_Mutation_p.H39Q|MOG_ENST00000376902.3_Missense_Mutation_p.H39Q|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Missense_Mutation_p.H39Q			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	39	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GACCAAGACACCCTATCCGGG	0.552000													127	160					1.82128e-60	3.36626e-60	1	1	0
VWA3A	146177	broad.mit.edu	37	16	22149824	22149824	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:22149824G>T	ENST00000389398.5	+	22	2379	c.2283G>T	c.(2281-2283)ggG>ggT	p.G761G	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	761						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCCCCCTGGGGGCCAGAATGG	0.532000													3	30					0.150653	0.151926	1	1	0
HK3	3101	broad.mit.edu	37	5	176311047	176311047	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:176311047C>A	ENST00000292432.5	-	14	2037	c.1946G>T	c.(1945-1947)cGc>cTc	p.R649L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	649	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCTGTCTGCGAGTGATGGC	0.597000													23	148					1.42536e-11	2.03088e-11	1	1	0
MUC17	140453	broad.mit.edu	37	7	100675087	100675087	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:100675087C>A	ENST00000306151.4	+	3	454	c.390C>A	c.(388-390)ccC>ccA	p.P130P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	130	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)					CACTTTTCCCCAGTTCTACTG	0.473000													22	100					1.10923e-09	1.49822e-09	1	1	0
IFIT2	3433	broad.mit.edu	37	10	91065722	91065722	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:91065722G>A	ENST00000371826.3	+	2	178	c.9G>A	c.(7-9)gaG>gaA	p.E3E	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	3					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CCTACAGTGAGAACAATAAGA	0.413000													4	83					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911168	101911168	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:101911168G>T	ENST00000537097.1	+	6	3140	c.2327G>T	c.(2326-2328)gGg>gTg	p.G776V	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G776V|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G776V|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G776V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	776	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCTGAGGAGGGGGACATTATT	0.493000													21	149					3.5997e-14	5.56741e-14	1	1	0
FIGF	2277	broad.mit.edu	37	X	15381328	15381328	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:15381328C>A	ENST00000297904.3	-	2	633	c.204G>T	c.(202-204)agG>agT	p.R68S		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	68					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	p.R68R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGAGCCTCAGCCTGCATCTCC	0.473000													7	69					0.00198382	0.00214554	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26714828	26714828	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:26714828A>C	ENST00000381340.3	-	35	5104	c.4688T>G	c.(4687-4689)tTc>tGc	p.F1563C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1563					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTCTTCATGAAAAGAGTATT	0.423000													23	423					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7154643	7154643	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:7154643G>C	ENST00000320892.6	+	4	636	c.194G>C	c.(193-195)tGc>tCc	p.C65S	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	65						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GCAATTAGCTGCCCAGATGCT	0.468000													54	64					0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100587068	100587068	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:100587068C>A	ENST00000287482.5	-	5	489	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	117					centriole replication	centriole		p.D117Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GGTGAGTTATCCAAAATAGCT	0.333000													6	38					0.00198382	0.00214554	1	1	0
XRN1	54464	broad.mit.edu	37	3	142094688	142094688	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:142094688C>G	ENST00000264951.4	-	25	3047	c.2930G>C	c.(2929-2931)tGg>tCg	p.W977S	XRN1_ENST00000392981.2_Missense_Mutation_p.W977S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	977					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGAATACATCCATTCACTTCC	0.363000													9	48					0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661596	116661596	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:116661596G>T	ENST00000542499.1	-	4	421	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	APOA5_ENST00000227665.4_Missense_Mutation_p.L117M	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	117					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGCCCACCAGCTCGTGCGCC	0.657000													20	87					7.41877e-09	9.71274e-09	1	1	0
C8orf74	203076	broad.mit.edu	37	8	10555335	10555335	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:10555335C>A	ENST00000304519.5	+	3	497	c.468C>A	c.(466-468)ggC>ggA	p.G156G	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	156										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TGGCCGAGGGCATGGACAGGG	0.657000													29	56					7.01153e-11	9.80301e-11	1	1	0
TEX13A	56157	broad.mit.edu	37	X	104465032	104465032	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:104465032A>G	ENST00000372578.3	-	2	161	c.50T>C	c.(49-51)gTg>gCg	p.V17A	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.V17A|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.V17A	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	17						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GAAGGCCACCACGTTGCTATG	0.542000													6	41					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110857883	110857883	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:110857883G>T	ENST00000375820.4	-	16	982	c.861C>A	c.(859-861)ggC>ggA	p.G287G	COL4A1_ENST00000543140.1_Silent_p.G287G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	287	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTCCGGGTTTGCCCTGTAGAA	0.483000													30	101					3.11337e-16	5.05077e-16	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3019793	3019793	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:3019793C>A	ENST00000520002.1	-	39	6290	c.5735G>T	c.(5734-5736)gGt>gTt	p.G1912V	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1912V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1912V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1912V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1911V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1911V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1911V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1912						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGCAAGACCTACAGCTAG	0.433000													5	7					0.184627	0.18556	1	1	0
CNGB1	1258	broad.mit.edu	37	16	57953043	57953043	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:57953043C>A	ENST00000564448.1	-	20	1959	c.1899G>T	c.(1897-1899)tgG>tgT	p.W633C	CNGB1_ENST00000251102.8_Missense_Mutation_p.W639C			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	639					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTACTTCTTCCAGGGGCGGT	0.572000													15	87					2.23348e-06	2.67212e-06	1	1	0
DOCK7	85440	broad.mit.edu	37	1	63100466	63100466	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:63100466T>A	ENST00000251157.5	-	9	1046	c.1013A>T	c.(1012-1014)cAa>cTa	p.Q338L	DOCK7_ENST00000404627.2_Missense_Mutation_p.Q338L|DOCK7_ENST00000340370.5_Missense_Mutation_p.Q338L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	338					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAAACATCTTGGGAAGGATA	0.343000													31	121					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224581	51224581	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:51224581C>T	ENST00000245441.5	-	18	3357	c.3167G>A	c.(3166-3168)gGg>gAg	p.G1056E	NIN_ENST00000382041.3_Missense_Mutation_p.G1056E|NIN_ENST00000530997.2_Missense_Mutation_p.G1056E|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.G1056E|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.G1056E	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1056					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CAGCTGCTCCCCTTGCTGAAG	0.512000			T	PDGFRB	MPD								31	158					0	0	1	0	0
VSIG8	391123	broad.mit.edu	37	1	159832288	159832288	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:159832288G>A	ENST00000368100.1	-	1	159	c.24C>T	c.(22-24)caC>caT	p.H8H	RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	8						integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CGAGTAGAAGGTGGAATGCTC	0.627000													12	114					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318544	40318544	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:40318544G>C	ENST00000264661.3	-	10	1943	c.1611C>G	c.(1609-1611)gaC>gaG	p.D537E	KCNH4_ENST00000607371.1_Missense_Mutation_p.D537E	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	537					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTCTCAGCTCGTCTGGGAAGT	0.572000													6	60					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83328339	83328339	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:83328339C>A	ENST00000261722.3	-	26	3429	c.3222G>T	c.(3220-3222)aaG>aaT	p.K1074N	AP3B2_ENST00000535359.1_Missense_Mutation_p.K1093N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.K1042N	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1074					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTATCACATCCTTTACCAGCA	0.547000													12	62					7.03913e-09	9.2563e-09	1	1	0
SLIT3	6586	broad.mit.edu	37	5	168180868	168180868	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:168180868C>T	ENST00000519560.1	-	17	2249		c.e17+1		SLIT3_ENST00000332966.8_Splice_Site|SLIT3_ENST00000404867.3_Splice_Site	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGCACTCACAAGGTTTTGA	0.637000													12	57					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231115750	231115750	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:231115750C>A	ENST00000392045.3	+	10	1145	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y	SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.S344Y|SP140_ENST00000343805.6_Missense_Mutation_p.S318Y|SP140_ENST00000350136.5_Intron|SP140_ENST00000486687.2_Missense_Mutation_p.S268Y	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	344					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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)		CAGGAAGCCTCTAGCTCCCTA	0.478000													9	55					6.40141e-05	7.32115e-05	1	1	0
ZNF711	7552	broad.mit.edu	37	X	84510303	84510303	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:84510303C>G	ENST00000360700.4	+	4	1004	c.118C>G	c.(118-120)Cat>Gat	p.H40D	ZNF711_ENST00000395402.1_Missense_Mutation_p.H18D|ZNF711_ENST00000373165.3_Missense_Mutation_p.H40D|ZNF711_ENST00000276123.3_Missense_Mutation_p.H40D			Q9Y462	ZN711_HUMAN	zinc finger protein 711	40					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CGATGGAGACCATATTGTTGT	0.368000													14	73					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94243813	94243813	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:94243813G>T	ENST00000542893.2	+	3	684	c.366G>T	c.(364-366)caG>caT	p.Q122H	CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Missense_Mutation_p.Q122H|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	122	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						AGATTAACCAGCTGGCCCAGA	0.592000													39	33					2.52449e-32	4.55323e-32	1	1	0
ZNF628	89887	broad.mit.edu	37	19	55994196	55994196	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:55994196G>T	ENST00000598519.1	+	3	2189	c.1636G>T	c.(1636-1638)Gcc>Tcc	p.A546S	ZNF628_ENST00000391718.2_Missense_Mutation_p.A542S	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	542						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTGTGGCAAGGCCTTCCGCAA	0.687000													8	55					0.0477658	0.0487456	1	1	0
ZNF862	643641	broad.mit.edu	37	7	149559007	149559007	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:149559007G>T	ENST00000223210.4	+	7	3003	c.2758G>T	c.(2758-2760)Gat>Tat	p.D920Y		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTTCCAGGCGGATAGGGAGAG	0.572000													16	143					4.7546e-09	6.29379e-09	1	1	0
TFAP2A	7020	broad.mit.edu	37	6	10410446	10410446	+	Silent	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:10410446T>G	ENST00000379613.3	-	2	430	c.174A>C	c.(172-174)ccA>ccC	p.P58P	TFAP2A_ENST00000379604.2_Silent_p.P56P|TFAP2A_ENST00000497266.1_Intron|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000379608.3_Silent_p.P50P|TFAP2A_ENST00000319516.4_Silent_p.P52P|TFAP2A_ENST00000482890.1_Silent_p.P56P			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	56	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGGGGAAGTATGGGGGCTGGA	0.657000													6	67					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25161794	25161794	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:25161794C>T	ENST00000276440.7	+	11	1044	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	DOCK5_ENST00000481100.1_Missense_Mutation_p.H334Y	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	334						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGATATCATACATGGGAAGGT	0.378000													5	8					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048647	175048647	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:175048647C>A	ENST00000239462.4	+	3	701	c.588C>A	c.(586-588)gaC>gaA	p.D196E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	196	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGGTGCCGACTGCGGCTACC	0.731000													3	16					0.004672	0.00496296	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7526095	7526095	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:7526095A>T	ENST00000313599.3	-	14	3608	c.3551T>A	c.(3550-3552)cTg>cAg	p.L1184Q	CD163L1_ENST00000416109.2_Missense_Mutation_p.L1194Q|CD163L1_ENST00000396630.1_Missense_Mutation_p.L1184Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1184	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCACAGCCCAGCTGCCTGCA	0.542000													37	192					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784510	160784510	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:160784510C>T	ENST00000263285.5	+	4	1061	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	LY9_ENST00000341032.4_Missense_Mutation_p.S344F|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.S304F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	344	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)			TCAGAGGCCTCCAGCGTCACC	0.582000													3	39					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101585493	101585493	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:101585493C>A	ENST00000310954.6	-	9	1756		c.e9-1			NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1						cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTCTCCAGTCCTGTAAATAAG	0.348000													17	59					1.99824e-07	2.50619e-07	1	1	0
SLC10A2	6555	broad.mit.edu	37	13	103718243	103718243	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:103718243G>T	ENST00000245312.3	-	1	953	c.357C>A	c.(355-357)gtC>gtA	p.V119V		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	119					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGTCGCCATCGACCCAATAGG	0.502000													19	64					2.94398e-08	3.80424e-08	1	1	0
ZC3H3	23144	broad.mit.edu	37	8	144621379	144621379	+	Missense_Mutation	SNP	C	C	A	rs142996724		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:144621379C>A	ENST00000262577.5	-	2	189	c.158G>T	c.(157-159)cGc>cTc	p.R53L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	53					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			ACGAGGGTAGCGGGCACTAAA	0.637000													65	127					6.26901e-30	1.11719e-29	1	1	0
RAD21	5885	broad.mit.edu	37	8	117874088	117874088	+	Silent	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:117874088A>G	ENST00000297338.2	-	4	653	c.366T>C	c.(364-366)ccT>ccC	p.P122P	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	122					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ACTCTAAGTCAGGCAGTGGCT	0.373000													5	182					0	0	1	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821465	12821465	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:12821465G>T	ENST00000319264.3	+	2	1088	c.393G>T	c.(391-393)atG>atT	p.M131I		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	134																	TCAAGTGGATGATCGAAGAAA	0.512000													50	65					4.18559e-23	7.28512e-23	1	1	0
ARSK	153642	broad.mit.edu	37	5	94903724	94903724	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:94903724G>T	ENST00000380009.4	+	3	592	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	129						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTGGGAAACTGGACTATACTT	0.383000													9	50					7.48243e-07	9.21033e-07	1	1	0
DCN	1634	broad.mit.edu	37	12	91539978	91539978	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:91539978A>C	ENST00000052754.5	-	8	1438	c.937T>G	c.(937-939)Tgc>Ggc	p.C313G	DCN_ENST00000552962.1_Missense_Mutation_p.C313G|DCN_ENST00000393155.1_Missense_Mutation_p.C313G|DCN_ENST00000228329.5_Missense_Mutation_p.C204G|DCN_ENST00000303320.3_Missense_Mutation_p.C126G|DCN_ENST00000547568.2_Missense_Mutation_p.C166G|DCN_ENST00000425043.1_Missense_Mutation_p.C166G|DCN_ENST00000420120.2_Missense_Mutation_p.C204G|DCN_ENST00000441303.2_Missense_Mutation_p.C126G	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	313					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CCAGGTGGGCAGAAGTCACTT	0.408000													68	62					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121498360	121498360	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:121498360G>T	ENST00000260197.7	+	47	6590	c.6461G>T	c.(6460-6462)gGg>gTg	p.G2154V	SORL1_ENST00000534286.1_Missense_Mutation_p.G1064V|SORL1_ENST00000532694.1_Missense_Mutation_p.G1000V|SORL1_ENST00000525532.1_Missense_Mutation_p.G1098V|SORL1_ENST00000527934.1_Missense_Mutation_p.G769V	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2154					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGGGGGTGGGGTTTGCCATC	0.597000													11	53					9.70103e-10	1.31625e-09	1	1	0
ERN2	10595	broad.mit.edu	37	16	23706575	23706575	+	Silent	SNP	C	C	A	rs61744206		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:23706575C>A	ENST00000256797.4	-	15	2058	c.1890G>T	c.(1888-1890)cgG>cgT	p.R630R	ERN2_ENST00000457008.2_Silent_p.R530R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	582	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)		ACTGGGGTCCCCGCTCGGTGC	0.642000													6	31					0.0215528	0.0222612	1	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36273568	36273568	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:36273568C>T	ENST00000007510.4	+	14	1444	c.1300C>T	c.(1300-1302)Cca>Tca	p.P434S	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P298S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P434S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	434	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCAGCTGCCCCCACCACATTA	0.647000													7	20					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027759	37027759	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:37027759C>T	ENST00000358047.3	+	1	1328	c.1276C>T	c.(1276-1278)Ctc>Ttc	p.L426F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	426										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTGTCCCATCTCTGCCTGGA	0.602000													24	81					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103271180	103271180	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:103271180G>A	ENST00000376052.3	+	5	620	c.604G>A	c.(604-606)Gat>Aat	p.D202N	TPP2_ENST00000376065.4_Missense_Mutation_p.D202N			P29144	TPP2_HUMAN	tripeptidyl peptidase II	202					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTATGGCATGATGGCGAAGT	0.373000													29	70					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27222179	27222179	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:27222179A>T	ENST00000333743.6	+	2	338	c.84A>T	c.(82-84)gaA>gaT	p.E28D	GABRG3_ENST00000555083.1_Missense_Mutation_p.E28D	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	28					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATGAATATGAAGATTCATCAT	0.423000													9	54					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201877	140201877	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:140201877C>A	ENST00000529859.1	+	1	517	c.517C>A	c.(517-519)Cca>Aca	p.P173T	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P173T|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P173T|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTTAAATCCAAACGAATA	0.373000													19	41					2.35188e-11	3.32719e-11	1	1	0
DACH2	117154	broad.mit.edu	37	X	86087118	86087118	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:86087118A>G	ENST00000373125.4	+	12	1760	c.1760A>G	c.(1759-1761)tAt>tGt	p.Y587C	DACH2_ENST00000510272.1_Missense_Mutation_p.Y368C|DACH2_ENST00000508860.1_Missense_Mutation_p.Y420C|DACH2_ENST00000373131.1_3'UTR	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAGGTAACTATTACTGTTTA	0.338000													3	18					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287439	46287439	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:46287439C>A	ENST00000378966.3	+	2	587	c.171C>A	c.(169-171)aaC>aaA	p.N57K	SPERT_ENST00000310521.1_Missense_Mutation_p.N93K			Q8NA61	SPERT_HUMAN	spermatid associated	93						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ATCCACTGAACCGCTTCTCCT	0.677000													24	64					1.55469e-16	2.54987e-16	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48567860	48567860	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:48567860C>A	ENST00000435803.1	+	55	14297	c.14273C>A	c.(14272-14274)gCt>gAt	p.A4758D	ABCA13_ENST00000544596.1_Missense_Mutation_p.A488D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4758	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGAATGGAGCTGGGAAGAGC	0.378000													4	5					0.00024832	0.000280771	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564554	176564554	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:176564554C>A	ENST00000367662.3	+	3	2978	c.1814C>A	c.(1813-1815)aCa>aAa	p.T605K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T605K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	605	Metalloprotease.				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						CACCCACTCACAGGCTATGAT	0.587000													20	114					4.35082e-09	5.77208e-09	1	1	0
TAGAP	117289	broad.mit.edu	37	6	159461846	159461846	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:159461846G>T	ENST00000367066.3	-	7	827	c.496C>A	c.(496-498)Ccc>Acc	p.P166T	RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_5'UTR|TAGAP_ENST00000338313.5_Missense_Mutation_p.P166T|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	166	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCTTCCGGGGGATACTTCTG	0.522000													8	41					0.00307968	0.00331274	1	1	0
GPR83	10888	broad.mit.edu	37	11	94126761	94126761	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:94126761G>T	ENST00000243673.2	-	3	708	c.537C>A	c.(535-537)ccC>ccA	p.P179P	GPR83_ENST00000539203.2_Silent_p.P137P	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	179						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGAGATCCGGGGTTTCAAGG	0.468000													8	43					0.000274275	0.000307786	1	1	0
TMEM19	55266	broad.mit.edu	37	12	72094703	72094703	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:72094703G>T	ENST00000266673.5	+	6	1533	c.939G>T	c.(937-939)gtG>gtT	p.V313V		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	313						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ACAACGCAGTGAATCTGTTTT	0.473000													116	104					4.71618e-75	8.74398e-75	1	1	0
GDPD2	54857	broad.mit.edu	37	X	69649360	69649360	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:69649360G>T	ENST00000453994.2	+	11	1315	c.954G>T	c.(952-954)ggG>ggT	p.G318G	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Silent_p.G318G|GDPD2_ENST00000538649.1_Silent_p.G239G|GDPD2_ENST00000536730.1_Silent_p.G239G	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	318	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CCTTCTGGGGGGCCAAACCGC	0.517000													6	38					0.0215528	0.0222612	1	1	0
OR5AK2	390181	broad.mit.edu	37	11	56757047	56757047	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:56757047A>G	ENST00000326855.2	+	1	701	c.659A>G	c.(658-660)tAc>tGc	p.Y220C		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCCTACATCTACATCATGGCC	0.433000													7	125					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979147	46979147	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:46979147C>A	ENST00000264318.3	-	5	1490	c.508G>T	c.(508-510)Gcg>Tcg	p.A170S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	170					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGACACTCCGCACTTATGGTG	0.348000													17	30					5.3912e-06	6.38601e-06	1	1	0
FLNC	2318	broad.mit.edu	37	7	128489515	128489515	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:128489515G>A	ENST00000325888.8	+	30	5343	c.5082G>A	c.(5080-5082)gtG>gtA	p.V1694V	FLNC_ENST00000346177.6_Silent_p.V1694V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1694					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATGTGGATGTGGTTGAGAACC	0.607000													15	65					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21330059	21330059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:21330059G>T	ENST00000399167.2	+	9	1039	c.799G>T	c.(799-801)Gag>Tag	p.E267*	AIFM3_ENST00000440238.2_Nonsense_Mutation_p.E267*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.E267*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.E267*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.E255*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.E273*|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGTGCTCACCGAGGCTCAGGT	0.632000													18	50					1.99824e-07	2.50619e-07	1	1	0
ZNF107	51427	broad.mit.edu	37	7	64168798	64168798	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:64168798A>G	ENST00000395391.1	+	4	3491	c.2116A>G	c.(2116-2118)Aac>Gac	p.N706D	ZNF107_ENST00000423627.1_Missense_Mutation_p.N706D|ZNF107_ENST00000344930.3_Missense_Mutation_p.N706D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCAATCCTCAAACCTTACTAC	0.338000													6	41					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097973	43097973	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:43097973C>A	ENST00000244336.5	-	2	245	c.144G>T	c.(142-144)ggG>ggT	p.G48G	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	48	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GAACCTCCTTCCCCTCTGCAG	0.537000													39	149					9.45814e-24	1.65103e-23	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128367490	128367490	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:128367490G>T	ENST00000389524.4	+	24	3144	c.3091G>T	c.(3091-3093)Gcc>Tcc	p.A1031S	MYO7B_ENST00000428314.1_Missense_Mutation_p.A1031S|MYO7B_ENST00000409816.2_Missense_Mutation_p.A1031S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1031	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGTGCTGTATGCCAGGAGCAG	0.602000													11	10					9.70103e-10	1.31625e-09	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86921203	86921203	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:86921203T>A	ENST00000370565.4	+	14	2987	c.2825T>A	c.(2824-2826)tTa>tAa	p.L942*		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	942					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGAACaaaattattataaata	0.323000													19	38					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50834246	50834246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:50834246G>T	ENST00000398473.2	+	7	776	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	LARP4_ENST00000518561.1_Nonsense_Mutation_p.E152*|LARP4_ENST00000347328.5_Nonsense_Mutation_p.E222*|LARP4_ENST00000293618.8_Nonsense_Mutation_p.E222*|LARP4_ENST00000429001.3_Nonsense_Mutation_p.E228*|LARP4_ENST00000518444.1_Nonsense_Mutation_p.E221*|LARP4_ENST00000522085.1_Nonsense_Mutation_p.E222*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	222	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTTCAAAAGTGAAAACTGCCC	0.333000													30	29					1.74807e-11	2.47885e-11	1	1	0
MRPL16	54948	broad.mit.edu	37	11	59577327	59577327	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:59577327C>T	ENST00000300151.4	-	2	335		c.e2+1			NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16								rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CAAGCTCTCACCTTCAAAACT	0.488000													4	25					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877370	2877370	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:2877370G>C	ENST00000586426.1	+	4	498	c.411G>C	c.(409-411)aaG>aaC	p.K137N	ZNF556_ENST00000307635.2_Missense_Mutation_p.K138N			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	138			R -> C (in dbSNP:rs10421121).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ATCTGCGCAAGAATTGTTGTA	0.438000													14	69					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29796362	29796362	+	Missense_Mutation	SNP	C	C	A	rs78295860		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:29796362C>A	ENST00000428701.1	+	4	564	c.386C>A	c.(385-387)tCc>tAc	p.S129Y	HLA-G_ENST00000376828.2_Missense_Mutation_p.S134Y|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.S129Y|HLA-G_ENST00000376818.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	129	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GACCTGGGGTCCGACGGACGC	0.677000													13	197					4.96729e-08	6.33648e-08	1	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291122	141291122	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:141291122C>A	ENST00000247452.3	-	3	999	c.652G>T	c.(652-654)Ggt>Tgt	p.G218C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	218	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCATCACTACCCTCATCGGTG	0.512000										HNSCC(46;0.14)			21	140					2.37509e-13	3.54482e-13	1	1	0
LRIT2	340745	broad.mit.edu	37	10	85981750	85981750	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:85981750C>G	ENST00000372113.4	-	3	1584	c.1579G>C	c.(1579-1581)Gtc>Ctc	p.V527L	LRIT2_ENST00000538192.1_Missense_Mutation_p.V537L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	527						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCATCACAGACAGCTGGATGT	0.587000													45	97					0	0	1	0	0
EMP3	2014	broad.mit.edu	37	19	48832627	48832627	+	Translation_Start_Site	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:48832627A>T	ENST00000596315.1	+	0	386				EMP3_ENST00000270221.6_Missense_Mutation_p.Q67L|EMP3_ENST00000597279.1_Missense_Mutation_p.Q67L			P54852	EMP3_HUMAN	epithelial membrane protein 3						cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AAGGCGGTGCAGGTCCTCATG	0.567000													14	53					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653604	6653604	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:6653604C>A	ENST00000377658.4	-	4	1666	c.1615G>T	c.(1615-1617)Gcg>Tcg	p.A539S	KLHL21_ENST00000377663.3_3'UTR|KLHL21_ENST00000467612.1_Missense_Mutation_p.A172S	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	539					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		ACGCTCCACGCGCGAGTCTCT	0.622000													14	64					0.00316338	0.00339665	1	1	0
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													5	14					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77365415	77365415	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:77365415G>T	ENST00000373316.4	+	2	283		c.e2+1		PGK1_ENST00000537456.1_Splice_Site|PGK1_ENST00000442431.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						ACAACCAGAGGTAAGGTCCCT	0.383000													9	49					9.70103e-10	1.31625e-09	1	1	0
AGRN	375790	broad.mit.edu	37	1	978992	978992	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:978992G>A	ENST00000379370.2	+	9	1728	c.1678G>A	c.(1678-1680)Gtg>Atg	p.V560M		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	560	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTCTGAATGCGTGGCTTTGGC	0.682000													38	107					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102830	168102830	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:168102830G>C	ENST00000409195.1	+	9	5017	c.4928G>C	c.(4927-4929)aGa>aCa	p.R1643T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1421T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1643T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1468					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						TTATTAAACAGATCAACTGAA	0.338000													17	22					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189530	38189530	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:38189530C>A	ENST00000355202.4	-	5	2097	c.1502G>T	c.(1501-1503)gGt>gTt	p.G501V	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.G500V	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGGTTTCTCACCAGTATGAAC	0.403000													24	67					1.22574e-08	1.59774e-08	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20629117	20629117	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:20629117T>A	ENST00000525748.1	+	5	1177	c.904T>A	c.(904-906)Ttt>Att	p.F302I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	302					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTTTGCCTCCTTTGTGTCTGT	0.423000													37	110					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44039772	44039772	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:44039772G>T	ENST00000344290.5	+	2	391	c.69G>T	c.(67-69)agG>agT	p.R23S	MAPT_ENST00000571987.1_Missense_Mutation_p.R23S|MAPT_ENST00000334239.8_Missense_Mutation_p.R23S|MAPT_ENST00000262410.5_Missense_Mutation_p.R23S|MAPT_ENST00000415613.2_Missense_Mutation_p.R23S|MAPT_ENST00000535772.1_Missense_Mutation_p.R23S|MAPT_ENST00000420682.2_Missense_Mutation_p.R23S|MAPT_ENST00000340799.5_Missense_Mutation_p.R23S|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000431008.3_Missense_Mutation_p.R23S|MAPT_ENST00000446361.3_Missense_Mutation_p.R23S|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000574436.1_Missense_Mutation_p.R23S|MAPT_ENST00000351559.5_Missense_Mutation_p.R23S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	23					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TGGGGGACAGGAAAGATCAGG	0.582000													10	19					2.17888e-05	2.5406e-05	1	1	0
DPEP3	64180	broad.mit.edu	37	16	68014130	68014130	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:68014130G>T	ENST00000268793.4	-	1	602	c.229C>A	c.(229-231)Ccc>Acc	p.P77T	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	52					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AAGAGGCTGGGGGAGCCCAGC	0.721000													7	22					0.0293803	0.0300859	1	1	0
RNASE11	122651	broad.mit.edu	37	14	21052167	21052167	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:21052167G>T	ENST00000335950.4	-	3	929	c.467C>A	c.(466-468)aCa>aAa	p.T156K	RNASE11_ENST00000432835.2_Missense_Mutation_p.T156K|RNASE11_ENST00000555841.1_Missense_Mutation_p.T156K|RNASE11_ENST00000553849.1_Missense_Mutation_p.T156K|RNASE11_ENST00000398008.2_Missense_Mutation_p.T156K|RNASE11_ENST00000398009.2_Missense_Mutation_p.T156K	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	156						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		CTGGCACACTGTATTTTCCAG	0.493000													12	30					5.50884e-06	6.49956e-06	1	1	0
ZBTB21	49854	broad.mit.edu	37	21	43412890	43412890	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr21:43412890C>A	ENST00000310826.5	-	3	1498	c.1315G>T	c.(1315-1317)Gac>Tac	p.D439Y	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.D439Y|ZBTB21_ENST00000398499.1_Missense_Mutation_p.D439Y|ZBTB21_ENST00000398511.3_Missense_Mutation_p.D439Y	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TCCGAGGGGTCCGACAGCGGG	0.572000													15	27					2.23348e-06	2.67212e-06	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37414907	37414907	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:37414907C>T	ENST00000374660.1	+	1	123	c.24C>T	c.(22-24)atC>atT	p.I8I	ANKRD30A_ENST00000361713.1_Silent_p.I8I|ANKRD30A_ENST00000602533.1_Silent_p.I8I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	64						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAAGACCATCAACCTTAATA	0.572000													12	46					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428498	57428498	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:57428498C>A	ENST00000371100.4	+	1	730	c.178C>A	c.(178-180)Ccc>Acc	p.P60T	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P60T|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P60T	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGAGCCCATCCCCGTCGAGAA	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			7	14					3.09899e-07	3.84635e-07	1	1	0
C1QL2	165257	broad.mit.edu	37	2	119915833	119915833	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:119915833G>T	ENST00000272520.3	-	1	632	c.13C>A	c.(13-15)Ctg>Atg	p.L5M		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	5						collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GCGATGAGCAGCCCGAGCGCC	0.726000										HNSCC(49;0.14)			5	25					0.000602214	0.000664551	1	1	0
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs67185453		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:7577535C>A	ENST00000420246.2	-	7	878	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000413465.2_Missense_Mutation_p.R249M|TP53_ENST00000445888.2_Missense_Mutation_p.R249M|TP53_ENST00000359597.4_Missense_Mutation_p.R249M|TP53_ENST00000455263.2_Missense_Mutation_p.R249M|TP53_ENST00000269305.4_Missense_Mutation_p.R249M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(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)		GAGGATGGGCCTCCGGTTCAT	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)			21	39					3.51602e-12	5.08247e-12	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49425532	49425532	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:49425532C>A	ENST00000301067.7	-	39	12955	c.12956G>T	c.(12955-12957)aGa>aTa	p.R4319I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTGTGAAGGTCTCTTTGGCTC	0.632000													17	13					1.15088e-07	1.44952e-07	1	1	0
EGR1	1958	broad.mit.edu	37	5	137803195	137803195	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:137803195G>A	ENST00000239938.4	+	2	1329	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	353					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTCCCGCTCCGACGAGCTCAC	0.662000													23	77					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616945	77616945	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:77616945G>T	ENST00000521891.2	+	2	1070	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D208Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D208Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D208Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	208						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTTACAGCCGATCAGGCTTT	0.463000										HNSCC(33;0.089)			13	34					2.62699e-14	4.07354e-14	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28268598	28268598	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:28268598T>A	ENST00000405948.2	+	7	1387	c.967T>A	c.(967-969)Tgg>Agg	p.W323R	PGBD1_ENST00000259883.3_Missense_Mutation_p.W323R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	323					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGGTGATTTGTGGGCCCGCAT	0.493000													9	77					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734766	79734766	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:79734766G>T	ENST00000338008.5	+	3	2442	c.2262G>T	c.(2260-2262)atG>atT	p.M754I	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.M754I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.M754I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	754					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)		CAAACTGTATGAACTGCCAAG	0.398000													20	60					2.37509e-13	3.54482e-13	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554443	140554443	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:140554443C>G	ENST00000231137.3	+	1	2201	c.2027C>G	c.(2026-2028)gCg>gGg	p.A676G		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		676					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)			CTCCCGGAGGCGGCCCCGGAC	0.692000													51	114					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128614691	128614691	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:128614691G>A	ENST00000371122.4	-	19	2558	c.2429C>T	c.(2428-2430)aCa>aTa	p.T810I	SMARCA1_ENST00000371121.3_Missense_Mutation_p.T798I|SMARCA1_ENST00000371123.1_Missense_Mutation_p.T798I	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	810					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATAGCCTATTGTCTTCCGATA	0.313000													11	34					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37367868	37367868	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:37367868C>A	ENST00000529555.1	+	2	924	c.136C>A	c.(136-138)Ccc>Acc	p.P46T	ZNF345_ENST00000420450.1_Missense_Mutation_p.P46T|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.P46T			Q14585	ZN345_HUMAN	zinc finger protein 345	46					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAAGACATGCCCACTTTCAG	0.388000													5	95					3.59834e-05	4.16319e-05	1	1	0
OR2B6	26212	broad.mit.edu	37	6	27925276	27925276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:27925276C>A	ENST00000244623.1	+	1	258	c.258C>A	c.(256-258)tgC>tgA	p.C86*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAATTTATGCAGCATCAGGA	0.428000													26	76					4.72057e-08	6.0476e-08	1	1	0
TULP1	7287	broad.mit.edu	37	6	35480629	35480629	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:35480629G>A	ENST00000229771.6	-	1	86	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	TULP1_ENST00000322263.4_Silent_p.L3L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	3					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCATCCCGCAGAGGCATGGTG	0.632000													38	40					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246538	56246538	+	Silent	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr18:56246538T>A	ENST00000361673.3	-	4	1683	c.1470A>T	c.(1468-1470)tcA>tcT	p.S490S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	490							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTCTCTTACTGATTCATCCA	0.483000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	84					0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54398579	54398579	+	Splice_Site	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:54398579A>G	ENST00000274306.6	+	1	104	c.70_splice	c.e1+1	p.E23_splice		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	23					cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TAATTCCTGAAGGTAAGACTG	0.408000													5	58					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051832	96051832	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:96051832G>T	ENST00000297954.4	+	20	4907	c.4907G>T	c.(4906-4908)gGg>gTg	p.G1636V	WNK2_ENST00000349097.3_Missense_Mutation_p.G1248V|WNK2_ENST00000395477.2_Missense_Mutation_p.G1599V|WNK2_ENST00000427277.2_Missense_Mutation_p.G1211V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1636					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						GAGGTCTGCGGGGGGGACCTG	0.687000													5	15					0.014758	0.0153493	1	1	0
C15orf26	161502	broad.mit.edu	37	15	81440246	81440246	+	Silent	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:81440246G>C	ENST00000286732.4	+	6	767	c.684G>C	c.(682-684)ctG>ctC	p.L228L		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	228										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATCGGGGACTGGCAGCCCACC	0.383000													8	37					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245438	59245438	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:59245438G>T	ENST00000530162.1	+	1	593	c.536G>T	c.(535-537)tGt>tTt	p.C179F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTTTCTACTGTGATGTCCAC	0.498000													19	107					9.95505e-16	1.59763e-15	1	1	0
CAPN10	11132	broad.mit.edu	37	2	241528883	241528883	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:241528883C>A	ENST00000391984.2	+	2	461	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	CAPN10_ENST00000391982.2_Missense_Mutation_p.L89M|CAPN10_ENST00000404753.3_Missense_Mutation_p.L89M|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Missense_Mutation_p.L89M|CAPN10_ENST00000354082.4_Missense_Mutation_p.L89M	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	89	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CAGGCACCTCCTGGACCAGGT	0.622000													15	120					2.32078e-09	3.09957e-09	1	1	0
MAP7D3	79649	broad.mit.edu	37	X	135314096	135314096	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:135314096C>A	ENST00000316077.9	-	8	1240	c.1020G>T	c.(1018-1020)gtG>gtT	p.V340V	MAP7D3_ENST00000370663.5_Silent_p.V322V|MAP7D3_ENST00000370661.1_Silent_p.V305V	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	340						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCACGCTCACCACAGGGAATG	0.577000													23	160					9.95505e-16	1.59763e-15	1	1	0
OR2V2	285659	broad.mit.edu	37	5	180582841	180582841	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:180582841G>A	ENST00000328275.1	+	1	899	c.899G>A	c.(898-900)gGg>gAg	p.G300E		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGTGATGGGGGCACTGAGG	0.607000													22	34					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757647	3757647	+	Silent	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:3757647T>G	ENST00000252322.1	-	11	1647	c.1179A>C	c.(1177-1179)ggA>ggC	p.G393G	EFCAB4B_ENST00000444507.1_Intron|EFCAB4B_ENST00000440314.2_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	393					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTCAGACTGGTCCTTCCGACC	0.597000													7	74					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101280	25101280	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:25101280C>T	ENST00000526004.1	-	3	283	c.248G>A	c.(247-249)gGc>gAc	p.G83D	GZMB_ENST00000382542.1_Silent_p.R162R|GZMB_ENST00000382540.1_Silent_p.R83R|GZMB_ENST00000415355.3_Silent_p.R116R|GZMB_ENST00000216341.4_Silent_p.R128R|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	146	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TGCTAGGTAGCCTGAGGGGCT	0.622000													19	55					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113285519	113285519	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:113285519C>A	ENST00000389385.4	+	5	599	c.102C>A	c.(100-102)tcC>tcA	p.S34S	RPH3A_ENST00000543106.2_Silent_p.S34S|RPH3A_ENST00000415485.3_Silent_p.S34S|RPH3A_ENST00000551052.1_Silent_p.S30S|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000420983.2_Silent_p.S34S|RPH3A_ENST00000548866.1_Intron	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	34					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAGGCTGGTCCGTCCACCCCG	0.522000													45	34					1.57945e-13	2.39323e-13	1	1	0
CARD11	84433	broad.mit.edu	37	7	2974248	2974248	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:2974248G>T	ENST00000396946.4	-	10	1760	c.1357C>A	c.(1357-1359)Ctg>Atg	p.L453M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	453					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTTACTGGCAGGTTCCTGGGC	0.572000			Mis		DLBCL								3	42					0.115264	0.117028	1	1	0
KRT72	140807	broad.mit.edu	37	12	52984643	52984643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:52984643C>A	ENST00000293745.2	-	6	1151	c.1066G>T	c.(1066-1068)Gag>Tag	p.E356*	KRT72_ENST00000398066.3_Nonsense_Mutation_p.E168*|KRT72_ENST00000537672.2_Nonsense_Mutation_p.E356*|KRT72_ENST00000354310.4_Intron	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	356	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTCCCTATCTCTGAGCGGATC	0.493000													62	49					2.89935e-36	5.26114e-36	1	1	0
APEX2	27301	broad.mit.edu	37	X	55033565	55033565	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:55033565G>C	ENST00000374987.3	+	6	1320	c.1254G>C	c.(1252-1254)atG>atC	p.M418I		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	418					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TACCACTGATGAGCGCCCTCA	0.552000								Other BER factors					4	29					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223007	118223007	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:118223007C>A	ENST00000402510.2	-	11	2185	c.2186G>T	c.(2185-2187)tGc>tTc	p.C729F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	729										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTTTCTTTGCAGATAGTTTG	0.408000													9	38					3.09899e-07	3.84635e-07	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982000	7982000	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:7982000C>A	ENST00000328600.2	-	2	1320	c.1159G>T	c.(1159-1161)Gct>Tct	p.A387S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	387	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGACGTAAGCCATGAAGATG	0.577000													4	41					0.00024832	0.000280771	1	1	0
LAT2	7462	broad.mit.edu	37	7	73635038	73635038	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:73635038C>T	ENST00000460943.1	+	9	1195	c.306C>T	c.(304-306)agC>agT	p.S102S	LAT2_ENST00000344995.5_Silent_p.S102S|LAT2_ENST00000398475.1_Silent_p.S102S|LAT2_ENST00000275635.7_Silent_p.S102S	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	102					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CCGCAGGAAGCAGACACGGGT	0.657000													15	28					0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641339	161641339	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:161641339C>T	ENST00000367962.4	+	3	418	c.291C>T	c.(289-291)ccC>ccT	p.P97P	FCGR2B_ENST00000428605.2_Silent_p.P97P|FCGR2B_ENST00000403078.3_Silent_p.P97P|FCGR2B_ENST00000367960.5_Silent_p.P90P|FCGR2B_ENST00000358671.5_Silent_p.P97P|FCGR2B_ENST00000367961.4_Silent_p.P90P|FCGR2B_ENST00000236937.9_Silent_p.P97P			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	97	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACACGCAGCCCAGCTACAGGT	0.577000			T	?	ALL								57	48					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127958834	127958834	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:127958834G>A	ENST00000335247.7	-	3	382	c.252C>T	c.(250-252)taC>taT	p.Y84Y	CYP27C1_ENST00000409327.1_Silent_p.Y84Y	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	84						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GGGCCTCGATGTATTCCACAG	0.537000													18	94					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119563201	119563201	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:119563201C>A	ENST00000267260.4	+	7	919	c.531C>A	c.(529-531)ccC>ccA	p.P177P	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	177	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAGCCGGCCCCGAAAGTCTC	0.602000													35	35					1.836e-18	3.05318e-18	1	1	0
TSPYL6	388951	broad.mit.edu	37	2	54482987	54482987	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:54482987G>T	ENST00000317802.7	-	1	422	c.302C>A	c.(301-303)gCc>gAc	p.A101D	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	101					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CGAGGCAGAGGCCGCTTCTAG	0.607000													7	80					0.0293803	0.0300859	1	1	0
ARMC4	55130	broad.mit.edu	37	10	28273196	28273196	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:28273196G>C	ENST00000305242.5	-	5	691	c.599C>G	c.(598-600)aCg>aGg	p.T200R	ARMC4_ENST00000239715.3_Missense_Mutation_p.T57R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	200							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTTCTTCACCGTCATGGGACT	0.328000													39	65					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7637774	7637774	+	Silent	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:7637774A>T	ENST00000359156.4	-	11	2899	c.2697T>A	c.(2695-2697)ccT>ccA	p.P899P	CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Silent_p.P899P|CD163_ENST00000396620.3_Silent_p.P932P|CD163_ENST00000541972.1_Silent_p.P887P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	899	SRCR 8.				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						ACAGCGTGTCAGGTCCTTTTG	0.537000													30	100					0	0	1	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612922	228612922	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:228612922G>A	ENST00000366696.1	-	1	104	c.105C>T	c.(103-105)ggC>ggT	p.G35G		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	35					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GCTTCTTCACGCCGCCAGTGG	0.672000													6	102					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560178	33560178	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:33560178C>T	ENST00000228567.3	-	3	919	c.623G>A	c.(622-624)aGg>aAg	p.R208K	SYT10_ENST00000535526.1_Missense_Mutation_p.R27K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	208						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGGCTTTATCCTCCCAATGCT	0.443000													23	322					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367048	248367048	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:248367048C>T	ENST00000456743.1	+	1	717	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCTGTCATTCACATGGGATC	0.413000													105	160					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													5	30					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88052125	88052125	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:88052125C>T	ENST00000393207.1	+	7	944	c.723C>T	c.(721-723)atC>atT	p.I241I	BANP_ENST00000355022.4_Silent_p.I210I|BANP_ENST00000538234.1_Silent_p.I249I|BANP_ENST00000286122.7_Silent_p.I241I|BANP_ENST00000479780.2_Silent_p.I210I|BANP_ENST00000393208.2_Silent_p.I210I|BANP_ENST00000355163.5_Silent_p.I216I	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	241	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TGCTGCACATCAGCACCAACT	0.632000													6	15					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254152	39254152	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:39254152G>T	ENST00000333822.4	-	1	241	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	62	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ACAGCAGGTGGGCTGGCAGCA	0.657000													8	33					0.000274275	0.000307786	1	1	0
CPED1	79974	broad.mit.edu	37	7	120906445	120906445	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:120906445G>T	ENST00000310396.5	+	19	2942	c.2475G>T	c.(2473-2475)tgG>tgT	p.W825C		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CCCAGTTCTGGATAAGCCCTT	0.393000													27	112					3.73148e-12	5.3809e-12	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140432648	140432648	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:140432648G>T	ENST00000306549.3	+	1	1670	c.1593G>T	c.(1591-1593)gtG>gtT	p.V531V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAATTTGTGGTAAAGGCAA	0.428000													21	53					4.54149e-19	7.65895e-19	1	1	0
PELP1	27043	broad.mit.edu	37	17	4607409	4607409	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:4607409T>C	ENST00000572293.1	-	1	211	c.148A>G	c.(148-150)Aag>Gag	p.K50E	PELP1_ENST00000574876.1_5'UTR|PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000301396.4_5'UTR|PELP1_ENST00000269230.7_5'UTR	NM_014389.2	NP_055204.3	Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	673					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GCCGCCATCTTCCCCCGGGTT	0.741000													10	21					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72297197	72297197	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:72297197G>A	ENST00000579490.1	+	7	1183	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	DNAI2_ENST00000582036.1_Missense_Mutation_p.D293N|DNAI2_ENST00000307504.5_Missense_Mutation_p.D150N|DNAI2_ENST00000446837.2_Missense_Mutation_p.D293N|DNAI2_ENST00000311014.6_Missense_Mutation_p.D293N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	293					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATGTGGTGGGACATCCGAAA	0.577000									Kartagener syndrome				12	134					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21592418	21592418	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:21592418C>G	ENST00000298925.5	+	19	2326	c.2173C>G	c.(2173-2175)Caa>Gaa	p.Q725E	NELL1_ENST00000532434.1_Missense_Mutation_p.Q650E|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.Q697E|NELL1_ENST00000325319.5_Missense_Mutation_p.Q640E			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	697	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATGTTTAGACCAAAATGGTCA	0.473000													13	106					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40556906	40556906	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:40556906G>A	ENST00000357037.5	-	2	1391	c.972C>T	c.(970-972)caC>caT	p.H324H		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	324					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCTTCTTGACGTGGAAGGTGA	0.667000													12	77					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800733	26800733	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:26800733C>A	ENST00000376236.4	+	7	1044	c.589C>A	c.(589-591)Cgg>Agg	p.R197R		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	197	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GGTGGATGAGCGGCAGCTGGC	0.468000													12	88					7.93312e-07	9.725e-07	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			153	8					2.11276e-59	3.89296e-59	1	1	0
LRFN1	57622	broad.mit.edu	37	19	39804889	39804889	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:39804889C>A	ENST00000248668.4	-	1	1087	c.1088G>T	c.(1087-1089)aGg>aTg	p.R363M		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	363	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCCACTGTCCCTCAAGGTGGT	0.672000													14	40					7.93312e-07	9.725e-07	1	1	0
OR52B4	143496	broad.mit.edu	37	11	4389490	4389490	+	Silent	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:4389490T>A	ENST00000408920.2	-	1	126	c.36A>T	c.(34-36)acA>acT	p.T12T		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTGGAAGACTGTGTGGCTAG	0.498000													4	19					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41243619	41243619	+	Missense_Mutation	SNP	G	G	A	rs80357257		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:41243619G>A	ENST00000309486.4	-	9	4068	c.3041C>T	c.(3040-3042)aCa>aTa	p.T1014I	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.T1310I|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.T1310I|BRCA1_ENST00000354071.3_Missense_Mutation_p.T1310I|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.T1310I|BRCA1_ENST00000493795.1_Missense_Mutation_p.T1263I	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1310					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGGGTGTTTGTATTTGCAGT	0.428000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			26	118					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652372	1652372	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:1652372G>T	ENST00000252804.4	-	17	3230	c.3180C>A	c.(3178-3180)ggC>ggA	p.G1060G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1060					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTTGAAGATGCCAGCATTGA	0.607000													5	31					8.12818e-05	9.27825e-05	1	1	0
DVL3	1857	broad.mit.edu	37	3	183882070	183882070	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:183882070G>T	ENST00000313143.3	+	3	495	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	DVL3_ENST00000431765.1_Missense_Mutation_p.G83C|DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	83					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTCAGCTGAGGGCTCACACCC	0.582000													15	152					1.3612e-06	1.6517e-06	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113277760	113277760	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:113277760C>A	ENST00000297405.5	-	60	9812	c.9568G>T	c.(9568-9570)Gtg>Ttg	p.V3190L	CSMD3_ENST00000352409.3_Missense_Mutation_p.V3120L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V3021L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3150L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3190	Sushi 24.					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						TGTCCAACCACATAATCATCT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	93					1.26612e-14	1.98392e-14	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140175683	140175683	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:140175683C>A	ENST00000526136.1	+	1	1134	c.1134C>A	c.(1132-1134)gaC>gaA	p.D378E	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D378E|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D378E|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGCGACTCTGGTACGA	0.532000													36	108					4.11147e-13	6.12107e-13	1	1	0
CD96	10225	broad.mit.edu	37	3	111356058	111356058	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:111356058C>A	ENST00000352690.4	+	11	1577	c.1337C>A	c.(1336-1338)cCt>cAt	p.P446H	CD96_ENST00000283285.5_Missense_Mutation_p.P462H	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	462	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TCACGGATACCTAGTGAAACA	0.388000									Opitz Trigonocephaly syndrome				14	36					6.31663e-08	7.98946e-08	1	1	0
MYLK	4638	broad.mit.edu	37	3	123427737	123427737	+	Missense_Mutation	SNP	G	G	T	rs151067308		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:123427737G>T	ENST00000360772.3	-	16	2326	c.1948C>A	c.(1948-1950)Cca>Aca	p.P650T	MYLK_ENST00000360304.3_Missense_Mutation_p.P650T|MYLK_ENST00000359169.1_Missense_Mutation_p.P650T|MYLK_ENST00000346322.5_Missense_Mutation_p.P581T|MYLK_ENST00000475616.1_Missense_Mutation_p.P650T			Q15746	MYLK_HUMAN	myosin light chain kinase	650	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAGGGGGTGGATTCCCTGAA	0.532000													20	100					7.41877e-09	9.71274e-09	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111629194	111629194	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:111629194G>A	ENST00000428084.1	-	6	612	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.R114W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	114					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCCACAGCCGGTGGAAGAGA	0.512000													14	78					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737738	4737738	+	Silent	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:4737738G>C	ENST00000545990.2	-	5	854	c.330C>G	c.(328-330)ggC>ggG	p.G110G	AKAP3_ENST00000228850.1_Silent_p.G110G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	110					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						GGGCCCTGGGGCCCTGGCAAG	0.488000													28	72					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216061791	216061791	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:216061791C>T	ENST00000366943.2	-	41	8586	c.8200G>A	c.(8200-8202)Gtg>Atg	p.V2734M	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V2734M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2734	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTTCCAGCACTGTCACCACA	0.512000										HNSCC(13;0.011)			7	43					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742657	42742657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:42742657G>A	ENST00000263805.4	-	2	2070	c.1744C>T	c.(1744-1746)Caa>Taa	p.Q582*	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		GCGTGCACTTGAAACTCAATT	0.383000													18	120					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374269	95374269	+	RNA	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:95374269C>A	ENST00000494840.1	-	0	1592					NR_077228.1																						CTTCCAGTCACAACCACATTC	0.458000													12	46					0.00185496	0.00202082	1	1	0
OR6S1	341799	broad.mit.edu	37	14	21109607	21109607	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:21109607T>G	ENST00000320704.3	-	1	243	c.244A>C	c.(244-246)Aag>Cag	p.K82Q		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTCAGCATCTTTGGAATGATG	0.468000													44	83					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461837	119461837	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:119461837G>A	ENST00000450136.1	+	2	1977	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	TRIM32_ENST00000373983.2_Missense_Mutation_p.G606R|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	606					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	p.G606W(1)		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						TCCTAAGGGTGGGGGCTATAG	0.527000													14	60					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797223	241797223	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:241797223T>A	ENST00000366553.1	-	1	2009	c.1846A>T	c.(1846-1848)Att>Ttt	p.I616F	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	616					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCAAAGATAATGTCTTCTGGA	0.443000													44	79					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811947	156811947	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:156811947G>T	ENST00000368195.3	-	19	3750	c.3354C>A	c.(3352-3354)gcC>gcA	p.A1118A	NTRK1_ENST00000392302.2_Silent_p.R28R	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1118	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGTTGCGGGCTGCTAGAT	0.562000													8	48					2.74318e-10	3.76478e-10	1	1	0
HK3	3101	broad.mit.edu	37	5	176311048	176311048	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:176311048G>T	ENST00000292432.5	-	14	2036	c.1945C>A	c.(1945-1947)Cgc>Agc	p.R649S		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	649	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTGTCTGCGAGTGATGGCT	0.602000													23	147					1.77063e-15	2.82638e-15	1	1	0
SERPINA6	866	broad.mit.edu	37	14	94776111	94776111	+	Silent	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:94776111C>G	ENST00000341584.3	-	3	992	c.846G>C	c.(844-846)cgG>cgC	p.R282R		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	282					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TAATCGTGTCCCGGCTCAGTG	0.562000													52	69					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10423065	10423065	+	Silent	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:10423065G>C	ENST00000317552.4	-	9	1900	c.1500C>G	c.(1498-1500)tcC>tcG	p.S500S	MID1_ENST00000380787.1_Silent_p.S500S|MID1_ENST00000380785.1_Silent_p.S500S|MID1_ENST00000380782.2_Silent_p.S500S|MID1_ENST00000453318.2_Silent_p.S500S|MID1_ENST00000380780.1_Silent_p.S500S|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Silent_p.S500S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	500	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGTTATCATGGGACACCTTCA	0.438000													7	60					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688172	18688172	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:18688172C>G	ENST00000406451.3	+	11	1474	c.1324C>G	c.(1324-1326)Cgt>Ggt	p.R442G	HDAC9_ENST00000405010.3_Missense_Mutation_p.R442G|HDAC9_ENST00000432645.2_Missense_Mutation_p.R442G|HDAC9_ENST00000406072.1_Missense_Mutation_p.R429G|HDAC9_ENST00000417496.2_Missense_Mutation_p.R440G|HDAC9_ENST00000524023.1_Missense_Mutation_p.R365G|HDAC9_ENST00000456174.2_Missense_Mutation_p.R414G|HDAC9_ENST00000428307.2_Missense_Mutation_p.R398G|HDAC9_ENST00000401921.1_Missense_Mutation_p.R401G|HDAC9_ENST00000441542.2_Missense_Mutation_p.R445G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	442					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAAATTGCCCCGTCACAGACC	0.488000													16	88					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88338109	88338109	+	Missense_Mutation	SNP	G	G	T	rs139968516		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:88338109G>T	ENST00000418177.2	-	5	1538	c.1171C>A	c.(1171-1173)Cat>Aat	p.H391N	GRM5_ENST00000305447.4_Missense_Mutation_p.H391N|GRM5_ENST00000305432.5_Missense_Mutation_p.H391N|GRM5_ENST00000393297.1_Missense_Mutation_p.H391N|GRM5_ENST00000455756.2_Missense_Mutation_p.H391N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	391					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCCTGAACATGATGTGTTTTC	0.458000													20	52					1.96292e-10	2.70015e-10	1	1	0
GMNN	51053	broad.mit.edu	37	6	24784384	24784384	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:24784384A>T	ENST00000230056.3	+	5	676	c.344A>T	c.(343-345)aAg>aTg	p.K115M	GMNN_ENST00000356509.3_Missense_Mutation_p.K115M	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	115	Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						GAAGCACTTAAGGAAAATGAG	0.303000													8	48					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99434579	99434579	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:99434579G>T	ENST00000268035.6	+	3	1277	c.666G>T	c.(664-666)cgG>cgT	p.R222R	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Silent_p.R222R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	222					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTGGGAAGCGGGCGTGCACCG	0.652000													6	24					0.0215528	0.0222612	1	1	0
CXorf65	158830	broad.mit.edu	37	X	70325862	70325862	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:70325862G>A	ENST00000374251.4	-	3	285	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	CXorf65_ENST00000485951.1_5'UTR			A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	80										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GGTGGCCCACGTTCCACCTTA	0.453000													6	66					0	0	1	0	0
SYAP1	94056	broad.mit.edu	37	X	16773128	16773128	+	Silent	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:16773128A>T	ENST00000380155.3	+	6	729	c.636A>T	c.(634-636)tcA>tcT	p.S212S		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	212										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					TTAAGCAGTCAGCCCAGCTCA	0.512000													30	94					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069340	6069340	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:6069340C>A	ENST00000381095.3	-	2	795	c.168G>T	c.(166-168)cgG>cgT	p.R56R	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Silent_p.R56R|NLGN4X_ENST00000381092.1_Silent_p.R56R|NLGN4X_ENST00000538097.1_Silent_p.R56R|NLGN4X_ENST00000275857.6_Silent_p.R56R	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	56					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTCTTAGGCCCCGGATTTTGC	0.522000													24	77					1.64293e-13	2.47061e-13	1	1	0
SMC1A	8243	broad.mit.edu	37	X	53432308	53432308	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:53432308C>G	ENST00000322213.4	-	12	2054	c.1927G>C	c.(1927-1929)Gga>Cga	p.G643R	SMC1A_ENST00000375340.6_Missense_Mutation_p.G409R	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	643	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AATAGGGTTCCATCCAGTGCC	0.547000													9	38					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190099	49190099	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:49190099C>T	ENST00000406846.2	-	10	1980	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	FSHR_ENST00000541117.1_Missense_Mutation_p.A357T|FSHR_ENST00000346173.3_Missense_Mutation_p.A559T|FSHR_ENST00000304421.4_Missense_Mutation_p.A595T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	621					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAGGGGTTGGCACAGGAGTTG	0.458000									Gonadal Dysgenesis, 46 XX				5	72					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8111755	8111755	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:8111755G>T	ENST00000305253.4	+	4	636	c.395G>T	c.(394-396)aGc>aTc	p.S132I	TUB_ENST00000299506.2_Missense_Mutation_p.S77I|TUB_ENST00000534099.1_Missense_Mutation_p.S83I	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	77					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TACCTCAGCAGCAGTGGCAGC	0.672000													4	44					0.00024832	0.000280771	1	1	0
CD40LG	959	broad.mit.edu	37	X	135741382	135741382	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:135741382C>A	ENST00000370629.2	+	5	650	c.594C>A	c.(592-594)ccC>ccA	p.P198P	CD40LG_ENST00000370628.2_Silent_p.P177P	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	198					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TAAAGTCCCCCGGTAGATTCG	0.478000									Immune Deficiency with Hyper-IgM				44	327					6.48837e-15	1.02475e-14	1	1	0
SLC38A7	55238	broad.mit.edu	37	16	58712337	58712337	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:58712337G>T	ENST00000570101.1	-	4	1394	c.511C>A	c.(511-513)Cct>Act	p.P171T	SLC38A7_ENST00000219320.4_Missense_Mutation_p.P171T|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Missense_Mutation_p.P171T|SLC38A7_ENST00000564010.1_Missense_Mutation_p.P82T			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	171					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GTGTACCAAGGGCCGCTGGCC	0.592000													65	45					2.79145e-41	5.11195e-41	1	1	0
SPNS1	83985	broad.mit.edu	37	16	28995594	28995594	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:28995594G>T	ENST00000311008.11	+	12	1938	c.1561G>T	c.(1561-1563)Gtg>Ttg	p.V521L	SPNS1_ENST00000334536.8_Missense_Mutation_p.V469L|SPNS1_ENST00000323081.8_Missense_Mutation_p.V448L|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.V566L|SPNS1_ENST00000352260.7_Missense_Mutation_p.V447L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	521					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CTCCACCCGCGTGCCCGTGGC	0.692000													7	35					0.00198382	0.00214554	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34150079	34150079	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:34150079T>G	ENST00000346193.3	-	1	368	c.317A>C	c.(316-318)aAg>aCg	p.K106T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	106										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						TGGAGAGAGCTTGGAAAATAG	0.537000													7	124					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494191	110494191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:110494191G>T	ENST00000324068.1	-	8	1279	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	CAPN6_ENST00000541758.1_Nonsense_Mutation_p.S116*	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	371	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCAGCCTCCTGAGCGGTTCAT	0.473000													55	360					6.30371e-39	1.15086e-38	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206480452	206480452	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:206480452C>T	ENST00000406610.2	+	23	3740	c.3533C>T	c.(3532-3534)cCa>cTa	p.P1178L	PARD3B_ENST00000358768.2_Missense_Mutation_p.P1116L|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.P1109L|PARD3B_ENST00000349953.3_Missense_Mutation_p.P1077L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1178					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACAGGCAGACCAGGGCCCCGT	0.627000													57	85					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716151	13716151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:13716151C>A	ENST00000279593.3	-	13	4230	c.4021G>T	c.(4021-4023)Gag>Tag	p.E1341*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1341					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTGACATCTCAAACATGTGG	0.612000													18	64					9.16793e-09	1.19765e-08	1	1	0
SYCE1	93426	broad.mit.edu	37	10	135369108	135369108	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:135369108G>T	ENST00000368517.3	-	11	853	c.715C>A	c.(715-717)Cgg>Agg	p.R239R	SYCE1_ENST00000343131.5_Silent_p.R275R|SYCE1_ENST00000432597.2_Silent_p.R239R|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	275					cell division	central element		p.R275R(1)|p.R239R(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACCTctgccgcttctgctgc	0.587000													6	22					0.0215528	0.0222612	1	1	0
AHCYL2	23382	broad.mit.edu	37	7	129049315	129049315	+	Splice_Site	SNP	A	A	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:129049315A>C	ENST00000325006.3	+	11	1349		c.e11-1		AHCYL2_ENST00000446544.2_Splice_Site|AHCYL2_ENST00000531335.2_Splice_Site|AHCYL2_ENST00000474594.1_Splice_Site|AHCYL2_ENST00000490911.1_Splice_Site|AHCYL2_ENST00000446212.1_Splice_Site	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2						one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTATTTCAACAGTATGGATGG	0.388000													4	74					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91943789	91943789	+	Silent	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:91943789A>T	ENST00000375807.3	+	5	860	c.789A>T	c.(787-789)gcA>gcT	p.A263A	SECISBP2_ENST00000534113.2_Silent_p.A195A|SECISBP2_ENST00000339901.4_Silent_p.A190A|SECISBP2_ENST00000470305.1_3'UTR	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	263					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AACCAGCTGCAGTGTTATCAA	0.393000													12	18					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126815	90126815	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:90126815C>A	ENST00000449207.2	-	9	1186	c.1167G>T	c.(1165-1167)atG>atT	p.M389I	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	389						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGGCCATACTCATCCCCATAC	0.522000													9	72					0.00448238	0.00480428	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6961949	6961949	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr18:6961949G>C	ENST00000389658.3	-	52	7540	c.7447C>G	c.(7447-7449)Ctg>Gtg	p.L2483V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2483					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTACCTCCAGTAAACAGCCT	0.383000													16	54					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515457	51515457	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:51515457T>A	ENST00000328188.1	+	1	176	c.176T>A	c.(175-177)cTt>cAt	p.L59H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCCATGTACCTTTCCCTGGCC	0.463000													88	190					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220423972	220423972	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:220423972C>A	ENST00000404537.1	-	9	3257	c.3201G>T	c.(3199-3201)tcG>tcT	p.S1067S	OBSL1_ENST00000265318.4_Silent_p.S1067S|OBSL1_ENST00000265317.5_Silent_p.S58S|OBSL1_ENST00000373876.1_Silent_p.S1067S|OBSL1_ENST00000603926.1_Silent_p.S1067S|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1067	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGAAGAAGGCCGAGTCATCTC	0.627000													22	184					6.21321e-17	1.02184e-16	1	1	0
KBTBD2	25948	broad.mit.edu	37	7	32910118	32910118	+	Silent	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:32910118C>G	ENST00000304056.4	-	4	1410	c.711G>C	c.(709-711)ctG>ctC	p.L237L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	237										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			CATTGGGTGGCAGACCTTGAA	0.403000													7	76					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137597699	137597699	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:137597699A>T	ENST00000452463.1	-	4	962	c.621T>A	c.(619-621)gaT>gaA	p.D207E	CREB3L2_ENST00000458726.1_Missense_Mutation_p.D144E|CREB3L2_ENST00000456390.1_Intron|CREB3L2_ENST00000330387.6_Intron	NM_001253775.1	NP_001240704.1	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	0					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CAGAGACCATATCCATAACCC	0.448000			T	FUS	fibromyxoid sarcoma								6	9					0	0	1	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182336	82182336	+	Nonstop_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:82182336T>A	ENST00000258169.4	-	5	533	c.483A>T	c.(481-483)taA>taT	p.*161Y	MPHOSPH6_ENST00000563504.1_Nonstop_Mutation_p.*132Y	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	0					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						GGCATCCATCTTAATCCTGGG	0.433000													33	59					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153033039	153033039	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:153033039G>A	ENST00000538966.1	+	4	1097	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	PLXNB3_ENST00000361971.5_Missense_Mutation_p.A253T|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	253	Sema.				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)					ccgccgcggggcccgggcccA	0.706000													8	10					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46761280	46761280	+	Silent	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:46761280C>G	ENST00000394809.4	-	8	1897	c.1782G>C	c.(1780-1782)ggG>ggC	p.G594G	MYLK3_ENST00000536476.1_Silent_p.G253G	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	594	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGAGCTCACCCCCGTCCACGC	0.577000													12	23					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81440757	81440757	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:81440757C>A	ENST00000286732.4	+	7	872	c.789C>A	c.(787-789)caC>caA	p.H263Q		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	263										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CAAGGAACCACTGGATGTTGG	0.517000													30	79					2.61193e-14	4.06074e-14	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701383	143701383	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:143701383G>A	ENST00000408922.2	+	1	362	c.294G>A	c.(292-294)atG>atA	p.M98I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	98					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)					CACTCTGTATGATACAACTGT	0.483000													15	138					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806504	54806504	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:54806504C>A	ENST00000306858.7	+	5	2851	c.2735C>A	c.(2734-2736)cCt>cAt	p.P912H		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	912										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAAGAAGACCTACTTCTTCT	0.463000													29	41					3.65163e-15	5.81339e-15	1	1	0
GNB2L1	10399	broad.mit.edu	37	5	180665099	180665099	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:180665099C>T	ENST00000512805.1	-	6	1185	c.777_splice	c.e6+1	p.W259_splice	GNB2L1_ENST00000511900.1_Splice_Site_p.W211_splice|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000376817.4_Splice_Site_p.W215_splice|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000514455.1_Splice_Site_p.W43_splice	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	259					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CCACACTCACCCAGATCTTGA	0.532000													17	110					0	0	1	0	0
FFAR1	2864	broad.mit.edu	37	19	35843026	35843026	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:35843026T>G	ENST00000246553.2	+	1	582	c.572T>G	c.(571-573)tTt>tGt	p.F191C		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	191					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CTCCTGCTCTTTTTTCTGCCC	0.697000													6	32					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24452786	24452786	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:24452786G>T	ENST00000398319.2	+	10	1610	c.1225G>T	c.(1225-1227)Gac>Tac	p.D409Y	CABIN1_ENST00000405822.2_Missense_Mutation_p.D359Y|CABIN1_ENST00000263119.5_Missense_Mutation_p.D409Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	409					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGAAAGTAGACTTCCAGGA	0.453000													13	79					9.31168e-06	1.09001e-05	1	1	0
HTR3B	9177	broad.mit.edu	37	11	113816855	113816855	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:113816855T>A	ENST00000260191.2	+	9	1579	c.1322T>A	c.(1321-1323)gTg>gAg	p.V441E	HTR3B_ENST00000537778.1_Missense_Mutation_p.V430E	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	441					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGGGGCGGCGTGTGAAGACTG	0.532000													5	58					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198953726	198953726	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:198953726C>A	ENST00000428675.1	+	3	3258	c.2860C>A	c.(2860-2862)Ctg>Atg	p.L954M	PLCL1_ENST00000437704.2_Missense_Mutation_p.L856M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	954					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTTTCCTTACCTGGAGCCTCT	0.458000													20	199					1.33834e-09	1.80358e-09	1	1	0
GGT5	2687	broad.mit.edu	37	22	24629893	24629893	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:24629893T>A	ENST00000327365.4	-	2	669	c.253A>T	c.(253-255)Agc>Tgc	p.S85C	GGT5_ENST00000418439.2_Intron|GGT5_ENST00000263112.7_Missense_Mutation_p.S85C|GGT5_ENST00000398292.3_Missense_Mutation_p.S85C	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	85					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGGCCCATGCTCTGAGGGTTG	0.607000													7	44					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108367055	108367055	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:108367055C>A	ENST00000263054.6	-	23	3041	c.3033_splice	c.e23-1	p.A1012_splice	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Splice_Site_p.A547_splice|SORCS1_ENST00000344440.6_Splice_Site_p.A1012_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1012						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)		ACCCCTGTGGCCTGAGGGACA	0.577000													9	30					1.12685e-05	1.3165e-05	1	1	0
DHX15	1665	broad.mit.edu	37	4	24541830	24541830	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:24541830C>A	ENST00000336812.4	-	10	1843	c.1687G>T	c.(1687-1689)Gca>Tca	p.A563S		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	563					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GGAAACTCTGCCATCATGGAT	0.428000													30	135					1.80694e-10	2.50289e-10	1	1	0
OLFM1	10439	broad.mit.edu	37	9	137982046	137982046	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:137982046G>T	ENST00000252854.4	+	2	289	c.102G>T	c.(100-102)ctG>ctT	p.L34L	OLFM1_ENST00000277415.11_Silent_p.L34L|OLFM1_ENST00000392991.4_Silent_p.L52L|OLFM1_ENST00000371793.3_Silent_p.L52L|OLFM1_ENST00000371796.3_Silent_p.L25L	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	52					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCCAGGTGCTGCCCACCAACC	0.602000													9	21					2.80697e-09	3.73221e-09	1	1	0
DCDC2	51473	broad.mit.edu	37	6	24205414	24205414	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:24205414T>G	ENST00000378450.3	-	1	117	c.98A>C	c.(97-99)aAt>aCt	p.N33T	DCDC2_ENST00000378454.3_Intron			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	61	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CAAATGCTTATTTTTAATAGA	0.383000													5	66					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847551	88847551	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:88847551A>G	ENST00000333190.4	+	2	800	c.191A>G	c.(190-192)tAt>tGt	p.Y64C		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	64						intracellular	zinc ion binding	p.Y64C(1)		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)			GACAAGCAGTATCACAAACAC	0.358000										HNSCC(36;0.09)			24	50					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786693	160786693	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:160786693G>T	ENST00000498165.1	+	4	932	c.831G>T	c.(829-831)gtG>gtT	p.V277V	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Silent_p.V98V|PPM1L_ENST00000295839.9_Silent_p.V150V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	277	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATCTCAACGTGGTCATCCCAG	0.517000													39	52					1.07121e-22	1.8483e-22	1	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283809	151283809	+	RNA	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:151283809G>T	ENST00000509345.2	-	0	527																											GGATGGCGGAGGCTCCCTGAG	0.622000													11	108					4.68919e-08	6.02031e-08	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228475826	228475826	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:228475826G>T	ENST00000570156.2	+	42	11237	c.11163G>T	c.(11161-11163)acG>acT	p.T3721T	OBSCN_ENST00000359599.6_Silent_p.T2139T|OBSCN_ENST00000366709.4_Silent_p.T411T|OBSCN_ENST00000284548.11_Silent_p.T3292T|OBSCN_ENST00000366707.4_Silent_p.T411T|OBSCN_ENST00000422127.1_Silent_p.T3292T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2754	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACGGCCACGCTGCGGTGTG	0.607000													51	54					1.81118e-26	3.1896e-26	1	1	0
B2M	567	broad.mit.edu	37	15	45003745	45003745	+	Translation_Start_Site	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:45003745A>G	ENST00000558401.1	+	1	71	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	B2M_ENST00000544417.1_Start_Codon_SNP_p.M1V|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1V	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1L(3)|p.M1V(2)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCGGGCCGAGATGTCTCGCTC	0.612000													7	49					0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108616295	108616295	+	Silent	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:108616295C>G	ENST00000368977.4	+	1	198	c.12C>G	c.(10-12)tcC>tcG	p.S4S		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	4							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGGCGGCCTCCTGGTCGCTCT	0.617000													15	20					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159161786	159161786	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:159161786G>A	ENST00000368125.4	+	2	306	c.149G>A	c.(148-150)tGc>tAc	p.C50Y	CADM3_ENST00000368124.4_Missense_Mutation_p.C84Y	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	50	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTGCTCAAGTGCCAAGTGAAA	0.517000													37	34					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121509713	121509713	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:121509713T>G	ENST00000305949.1	+	14	1573	c.1528T>G	c.(1528-1530)Ttt>Gtt	p.F510V		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	510					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGGAAACACTTTTTAGATTA	0.299000													20	50					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62019061	62019061	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:62019061G>T	ENST00000435607.1	-	24	4657	c.4581C>A	c.(4579-4581)atC>atA	p.I1527I	SCN4A_ENST00000578147.1_Silent_p.I1527I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1527					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGAACAGGCAGATGATGCTGT	0.577000													24	63					1.64293e-13	2.47061e-13	1	1	0
CPT1A	1374	broad.mit.edu	37	11	68549407	68549407	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:68549407C>A	ENST00000265641.5	-	11	1338	c.1184G>T	c.(1183-1185)cGt>cTt	p.R395L	CPT1A_ENST00000376618.2_Missense_Mutation_p.R395L|CPT1A_ENST00000540367.1_Missense_Mutation_p.R395L|CPT1A_ENST00000539743.1_Missense_Mutation_p.R395L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	395			Missing (in CPT1AD; loss of activity).		carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATAGGCCTGACGACACCTGGC	0.468000													15	35					6.31663e-08	7.98946e-08	1	1	0
SLC16A2	6567	broad.mit.edu	37	X	73740856	73740856	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:73740856C>A	ENST00000276033.5	+	2	850	c.684C>A	c.(682-684)atC>atA	p.I228I	SLC16A2_ENST00000587091.1_Silent_p.I154I			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	154						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.I228I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TGGGTATGATCTTCTTCTGTT	0.522000													5	71					0.0293803	0.0300859	1	1	0
CELF4	56853	broad.mit.edu	37	18	35145573	35145573	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr18:35145573C>A	ENST00000420428.2	-	1	427	c.32G>T	c.(31-33)gGa>gTa	p.G11V	CELF4_ENST00000361795.5_Missense_Mutation_p.G11V|CELF4_ENST00000588597.1_Missense_Mutation_p.G11V|CELF4_ENST00000334919.5_Missense_Mutation_p.G11V|CELF4_ENST00000603232.1_Missense_Mutation_p.G11V|CELF4_ENST00000601019.1_Missense_Mutation_p.G11V|CELF4_ENST00000591287.1_Missense_Mutation_p.G11V|CELF4_ENST00000591282.1_Missense_Mutation_p.G11V|CELF4_ENST00000412753.1_Missense_Mutation_p.G11V	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	11	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GTCAGCCTGTCCGTTTGCTAA	0.557000													14	29					1.67942e-08	2.18434e-08	1	1	0
WDR47	22911	broad.mit.edu	37	1	109554145	109554145	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:109554145A>C	ENST00000357672.3	-	4	814	c.439T>G	c.(439-441)Ttc>Gtc	p.F147V	WDR47_ENST00000369962.3_Missense_Mutation_p.F175V|WDR47_ENST00000369965.4_Missense_Mutation_p.F175V|WDR47_ENST00000400794.3_Missense_Mutation_p.F182V|WDR47_ENST00000361054.3_Missense_Mutation_p.F147V			O94967	WDR47_HUMAN	WD repeat domain 47	175										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GCAGGGATGAATTCTGCAACC	0.448000													51	194					0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863727	64863727	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:64863727G>A	ENST00000313349.3	-	2	576	c.279C>T	c.(277-279)acC>acT	p.T93T	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	93					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TGGGCTCGGTGGTGGGCTGGG	0.632000													5	50					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709596	67709596	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:67709596T>C	ENST00000268797.7	-	3	965	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	207						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GGCAGCGTTCTGCCTCACGAA	0.592000													36	48					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511536	4511536	+	Silent	SNP	C	C	A	rs71263980		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:4511536C>A	ENST00000301286.3	-	3	2393	c.2394G>T	c.(2392-2394)ggG>ggT	p.G798G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	798	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTGGACGGCCCCCTTGGCCA	0.617000													6	204					9.31168e-06	1.09001e-05	1	1	0
MTMR3	8897	broad.mit.edu	37	22	30412545	30412545	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:30412545G>C	ENST00000333027.3	+	15	1860	c.1532G>C	c.(1531-1533)tGc>tCc	p.C511S	MTMR3_ENST00000323630.5_Missense_Mutation_p.C375S|MTMR3_ENST00000406629.1_Missense_Mutation_p.C511S|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.C511S|MTMR3_ENST00000401950.2_Missense_Mutation_p.C511S	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	511	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACCTATTCCTGCCTGTTTGGA	0.498000													33	77					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016256	134016256	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:134016256C>A	ENST00000338492.4	+	12	1552	c.1388C>A	c.(1387-1389)cCg>cAg	p.P463Q	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	463					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TTTGTCACCCCGGGGGCGGGC	0.617000													15	122					6.31663e-08	7.98946e-08	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140953352	140953352	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:140953352G>T	ENST00000298296.1	+	2	219	c.219G>T	c.(217-219)caG>caT	p.Q73H		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	73										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGATCAGCGAATGGATA	0.502000													24	85					4.22769e-11	5.93867e-11	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154876187	154876187	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:154876187G>T	ENST00000287907.2	+	2	1640	c.1064G>T	c.(1063-1065)aGg>aTg	p.R355M	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	355						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCTTTTCTAGGCAACACTGA	0.458000													27	85					3.6726e-16	5.94185e-16	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31319061	31319061	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr18:31319061G>T	ENST00000269197.5	+	11	1693	c.1693G>T	c.(1693-1695)Gta>Tta	p.V565L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAAACTGCAGTAGAGACCAG	0.418000													9	10					1.58986e-06	1.92135e-06	1	1	0
CORO7	79585	broad.mit.edu	37	16	4410327	4410327	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:4410327A>G	ENST00000251166.4	-	21	2205	c.2060T>C	c.(2059-2061)aTt>aCt	p.I687T	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.I687T|CORO7_ENST00000574025.1_Missense_Mutation_p.I602T|CORO7_ENST00000537233.2_Missense_Mutation_p.I669T|CORO7_ENST00000539968.1_Missense_Mutation_p.I467T	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TACCCAGACAATGCGAGCTCC	0.622000													5	44					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716386	153716386	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:153716386G>T	ENST00000263512.4	-	2	1392	c.894C>A	c.(892-894)ttC>ttA	p.F298L	SLC10A3_ENST00000369649.4_Missense_Mutation_p.F269L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.F298L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.F353L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	298					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGAGGCAAGAAGCCAGTGG	0.612000													16	133					1.5739e-10	2.18515e-10	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42185162	42185162	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:42185162G>A	ENST00000320955.6	-	3	541	c.314C>T	c.(313-315)cCg>cTg	p.P105L	RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000309874.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	105	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCCCGGCTCGGGGGTGGCAG	0.677000													7	62					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43097973	43097973	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:43097973C>T	ENST00000230419.4	+	4	697	c.476C>T	c.(475-477)aCc>aTc	p.T159I	PTK7_ENST00000471863.1_Missense_Mutation_p.T159I|PTK7_ENST00000481273.1_Missense_Mutation_p.T167I|PTK7_ENST00000352931.2_Missense_Mutation_p.T159I|PTK7_ENST00000349241.2_Missense_Mutation_p.T159I|PTK7_ENST00000345201.2_Missense_Mutation_p.T159I	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	159	Ig-like C2-type 2.				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)			TGCAGGCCCACCTACCAATGG	0.597000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	122					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921726	150921726	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:150921726C>T	ENST00000271640.5	+	11	1586	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	SETDB1_ENST00000368969.4_Missense_Mutation_p.P466S|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTGCTCCACCTCTATCCCC	0.498000													29	64					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277512	152277512	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:152277512C>G	ENST00000368799.1	-	3	9885	c.9850G>C	c.(9850-9852)Ggt>Cgt	p.G3284R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3284	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGTCCACCAGAGGAAGTC	0.597000									Ichthyosis				87	799					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596720	142596720	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:142596720G>C	ENST00000370503.2	-	2	433	c.350C>G	c.(349-351)tCa>tGa	p.S117*	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	117										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTTCAGATGAGTCTAGATC	0.473000													15	94					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350158	21350158	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:21350158C>G	ENST00000215739.8	+	17	2425	c.2066C>G	c.(2065-2067)tCc>tGc	p.S689C	LZTR1_ENST00000389355.3_Missense_Mutation_p.S670C|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	689	BTB 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCGCCCGCTCCAGGTGGGTG	0.642000													8	74					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972037	85972037	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:85972037C>T	ENST00000372117.3	+	15	1759	c.1656C>T	c.(1654-1656)gaC>gaT	p.D552D	CDHR1_ENST00000332904.3_Silent_p.D552D|CDHR1_ENST00000440770.2_Silent_p.D256D	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	552	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGGCAGAGGACATGGAAGGCA	0.542000													27	77					0	0	1	0	0
TMLHE	55217	broad.mit.edu	37	X	154736621	154736621	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:154736621G>A	ENST00000334398.3	-	6	1078	c.933C>T	c.(931-933)caC>caT	p.H311H	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Silent_p.H311H	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	311					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCAATCATGTGGTTGTGAC	0.383000													22	139					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373488	5373488	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:5373488G>A	ENST00000380219.1	+	1	751	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCTTCTATGTCACTGTAGT	0.443000													10	105					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53345401	53345401	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:53345401C>A	ENST00000395631.2	-	7	1078	c.862G>T	c.(862-864)Gca>Tca	p.A288S	FERMT2_ENST00000341590.3_Missense_Mutation_p.A288S|FERMT2_ENST00000553373.1_Missense_Mutation_p.A288S|FERMT2_ENST00000343279.4_Missense_Mutation_p.A288S|FERMT2_ENST00000399304.3_Missense_Mutation_p.A288S			Q96AC1	FERM2_HUMAN	fermitin family member 2	288	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ATTCTGATTGCATCATACTGC	0.348000													28	64					1.17739e-12	1.73986e-12	1	1	0
HEPH	9843	broad.mit.edu	37	X	65486331	65486331	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:65486331G>T	ENST00000519389.1	+	21	3635	c.3456G>T	c.(3454-3456)atG>atT	p.M1152I	HEPH_ENST00000419594.1_Missense_Mutation_p.M909I|HEPH_ENST00000441993.2_Missense_Mutation_p.M1100I|HEPH_ENST00000336279.5_Missense_Mutation_p.M831I|HEPH_ENST00000374727.3_Missense_Mutation_p.M1101I|HEPH_ENST00000343002.2_Missense_Mutation_p.M1098I			Q9BQS7	HEPH_HUMAN	hephaestin	1098					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						TGCTGGGCATGCAGATCCCCA	0.483000													12	60					6.40141e-05	7.32115e-05	1	1	0
FAM154A	158297	broad.mit.edu	37	9	18928274	18928274	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:18928274G>A	ENST00000380534.4	-	4	1480	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	FAM154A_ENST00000542071.1_Missense_Mutation_p.P209S|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	401										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTTTCCACAGGGACATTTCCT	0.552000													9	37					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137597695	137597695	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:137597695C>A	ENST00000452463.1	-	4	966	c.625G>T	c.(625-627)Gtc>Ttc	p.V209F	CREB3L2_ENST00000458726.1_Missense_Mutation_p.V146F|CREB3L2_ENST00000456390.1_Intron|CREB3L2_ENST00000330387.6_Intron	NM_001253775.1	NP_001240704.1	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	0					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACCCAGAGACCATATCCATA	0.438000			T	FUS	fibromyxoid sarcoma								6	9					5.9392e-07	7.32583e-07	1	1	0
CADM3	57863	broad.mit.edu	37	1	159161788	159161788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:159161788C>T	ENST00000368125.4	+	2	308	c.151C>T	c.(151-153)Caa>Taa	p.Q51*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.Q85*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	51	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCTCAAGTGCCAAGTGAAAGA	0.517000													38	35					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132195472	132195472	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:132195472A>G	ENST00000360971.2	+	16	1650	c.1630A>G	c.(1630-1632)Atg>Gtg	p.M544V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	544	Phosphodiesterase.				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)	ATTTTCAAATATGCAAGTGAG	0.284000													40	52					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423613	88423613	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:88423613C>A	ENST00000394480.1	-	18	2501	c.2180G>T	c.(2179-2181)aGc>aTc	p.S727I	NTRK3_ENST00000355254.2_Missense_Mutation_p.S727I|NTRK3_ENST00000360948.2_Missense_Mutation_p.S741I|NTRK3_ENST00000557856.1_Missense_Mutation_p.S719I|NTRK3_ENST00000357724.2_Missense_Mutation_p.S733I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	741	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTACATGATGCTTTCAGGAGG	0.522000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			15	50					8.60227e-14	1.30676e-13	1	1	0
ECE2	9718	broad.mit.edu	37	3	184005667	184005667	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:184005667G>T	ENST00000402825.3	+	11	1660	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y	ECE2_ENST00000359140.4_Missense_Mutation_p.D407Y|ECE2_ENST00000357474.5_Missense_Mutation_p.D482Y|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.D436Y	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	554	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAACACGGATGACGCCCTTGG	0.532000													32	73					3.86903e-22	6.63739e-22	1	1	0
OLFM3	118427	broad.mit.edu	37	1	102270134	102270134	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:102270134G>T	ENST00000370103.4	-	6	1250	c.1037C>A	c.(1036-1038)gCa>gAa	p.A346E	OLFM3_ENST00000338858.5_Missense_Mutation_p.A366E|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	366	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AATATTGCCTGCATTCTGGTT	0.473000													19	54					1.01871e-10	1.41765e-10	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8862318	8862318	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:8862318C>A	ENST00000338037.6	+	32	3500	c.3473C>A	c.(3472-3474)cCc>cAc	p.P1158H	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1158					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.P1158L(2)|p.P1158H(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAAGACTGCCCCTCGAGATT	0.478000													64	172					3.94896e-32	7.101e-32	1	1	0
GRHL3	57822	broad.mit.edu	37	1	24666221	24666221	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:24666221C>T	ENST00000361548.4	+	8	1246	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	GRHL3_ENST00000356046.2_Missense_Mutation_p.S293F|GRHL3_ENST00000350501.5_Missense_Mutation_p.S339F|GRHL3_ENST00000342072.4_Missense_Mutation_p.S246F|GRHL3_ENST00000236255.4_Missense_Mutation_p.S344F	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	339					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AATGCACTGTCCTTTGTGTGG	0.532000													90	210					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87738863	87738863	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:87738863G>T	ENST00000320005.5	-	3	281	c.234C>A	c.(232-234)tcC>tcA	p.S78S	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	78					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GATCTCCAGAGGAATTTTTCT	0.428000													95	231					1.43697e-34	2.59961e-34	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70314547	70314547	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:70314547C>T	ENST00000377844.4	-	8	2540	c.1781G>A	c.(1780-1782)gGt>gAt	p.G594D	KLHL1_ENST00000545028.1_Missense_Mutation_p.G401D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	594					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGCTGCTACACCAACTGTGCT	0.338000													6	29					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410142	130410142	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:130410142C>T	ENST00000370904.1	-	21	3572	c.2662G>A	c.(2662-2664)Ggg>Agg	p.G888R	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.G902R|IGSF1_ENST00000370910.1_Missense_Mutation_p.G888R|IGSF1_ENST00000361420.3_Missense_Mutation_p.G897R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	897	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGAAAGTCCCTTGGCAGCGC	0.542000													25	75					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190106098	190106098	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:190106098C>A	ENST00000264734.2	+	1	438	c.190C>A	c.(190-192)Cct>Act	p.P64T	CLDN16_ENST00000456423.1_Missense_Mutation_p.P64T|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	64					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		ATGTTGCCATCCTGATGGGCT	0.498000													42	79					4.14481e-20	7.02969e-20	1	1	0
AP3B2	8120	broad.mit.edu	37	15	83328342	83328342	+	Silent	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:83328342T>A	ENST00000261722.3	-	26	3426	c.3219A>T	c.(3217-3219)gtA>gtT	p.V1073V	AP3B2_ENST00000535359.1_Silent_p.V1092V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.V1041V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1073					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCACATCCTTTACCAGCATGG	0.552000													12	62					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186493	50186493	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:50186493G>A	ENST00000335999.6	-	11	3818	c.3617C>T	c.(3616-3618)cCg>cTg	p.P1206L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1202	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCGGTGGCCCGGAGCAGCGGG	0.682000													17	15					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526107	150526107	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:150526107C>A	ENST00000271643.4	+	6	876	c.640C>A	c.(640-642)Ctc>Atc	p.L214I	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.L214I|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.L214I|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.L214I	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	214					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCAAACTGAGCTCCCTCCCAC	0.587000													10	156					2.80697e-09	3.73221e-09	1	1	0
CYLC1	1538	broad.mit.edu	37	X	83129040	83129040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:83129040G>T	ENST00000329312.4	+	4	1361	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	442					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAATGATGAAGAGTCTACTGA	0.343000													5	14					0.000602214	0.000664551	1	1	0
FAM86B3P	286042	broad.mit.edu	37	8	8095880	8095880	+	RNA	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:8095880C>T	ENST00000523017.1	-	0	608																											GCCACATGGCCCCAGGCCCAA	0.617000													7	43					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30675938	30675938	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:30675938C>A	ENST00000376406.3	-	8	3065	c.2418G>T	c.(2416-2418)ggG>ggT	p.G806G	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	806				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CAGTCTGCCTCCCTCTGCCTT	0.532000								Other conserved DNA damage response genes					21	225					6.33239e-15	1.00277e-14	1	1	0
C1QTNF3	114899	broad.mit.edu	37	5	34020776	34020776	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:34020776A>T	ENST00000382065.3	-	6	1578	c.872T>A	c.(871-873)gTt>gAt	p.V291D	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.V218D|C1QTNF3_ENST00000513065.1_5'UTR	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	218						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCGCAGCCAAACCTCATCCCC	0.458000													12	141					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022885	6022885	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:6022885C>G	ENST00000378858.4	-	5	1230	c.1006G>C	c.(1006-1008)Gac>Cac	p.D336H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	336						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CACATAGTGTCTGCTGCCCTG	0.632000													20	43					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072490	220072490	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:220072490C>G	ENST00000409594.1	+	3	466	c.271C>G	c.(271-273)Caa>Gaa	p.Q91E	ZFAND2B_ENST00000444522.2_Missense_Mutation_p.Q91E|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.Q91E|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.Q91E|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.Q91E|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.Q91E|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.Q91E|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.Q91E|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.Q91E			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	91						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGCACAGCAAAAACGTAA	0.552000													16	70					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27194830	27194830	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:27194830T>G	ENST00000242159.3	-	2	524	c.391A>C	c.(391-393)Aag>Cag	p.K131Q	HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'UTR	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	131					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CGGCCCCGCTTCCTGTCAGGT	0.602000													11	120					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351224	10351224	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:10351224G>C	ENST00000255381.2	-	34	4986	c.4876C>G	c.(4876-4878)Ctt>Gtt	p.L1626V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1626					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATTTCATTAAGATCTCCCTCC	0.473000													22	130					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655131	46655131	+	Silent	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:46655131A>G	ENST00000253255.5	-	1	4088	c.4089T>C	c.(4087-4089)agT>agC	p.S1363S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1363					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGAGATTACTACTCACATCTA	0.383000													9	68					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81594981	81594981	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:81594981C>A	ENST00000356860.3	-	32	2841	c.2502_splice	c.e32-1	p.V835_splice	CACNA2D1_ENST00000535308.1_Splice_Site_p.V47_splice|CACNA2D1_ENST00000356253.5_Splice_Site_p.V847_splice	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	847						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CAATCCATTACCTATCAAAAT	0.338000													11	75					3.07112e-06	3.64504e-06	1	1	0
FLNC	2318	broad.mit.edu	37	7	128493840	128493840	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:128493840C>A	ENST00000325888.8	+	39	6694	c.6433C>A	c.(6433-6435)Cct>Act	p.P2145T	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P2112T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2145					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGACAGGCACCTTCCATCGC	0.642000													22	68					1.55795e-14	2.4348e-14	1	1	0
SYNRG	11276	broad.mit.edu	37	17	35914083	35914083	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:35914083G>A	ENST00000339208.6	-	14	1882	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Missense_Mutation_p.P503L|SYNRG_ENST00000346661.4_Missense_Mutation_p.P581L|SYNRG_ENST00000394378.2_Missense_Mutation_p.P503L|SYNRG_ENST00000591288.1_Missense_Mutation_p.P420L|SYNRG_ENST00000585472.1_Missense_Mutation_p.P502L|SYNRG_ENST00000502449.2_Missense_Mutation_p.P503L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	581	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGCTCTAGTGGTGATACACT	0.398000													40	94					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15726454	15726454	+	RNA	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:15726454G>A	ENST00000441682.2	+	0	91							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGTCTTGGCTGGGCCTCAGGC	0.667000													20	31					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159161787	159161787	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:159161787C>T	ENST00000368125.4	+	2	307	c.150C>T	c.(148-150)tgC>tgT	p.C50C	CADM3_ENST00000368124.4_Silent_p.C84C	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	50	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGCTCAAGTGCCAAGTGAAAG	0.517000													37	34					0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57035972	57035972	+	Silent	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:57035972G>C	ENST00000371149.3	-	4	1610	c.1380C>G	c.(1378-1380)ccC>ccG	p.P460P	APCDD1L_ENST00000439429.1_Silent_p.P471P	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	460						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TGGAGAAGTCGGGGGCCTCCC	0.622000													43	100					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295767	212295767	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:212295767A>C	ENST00000342788.4	-	21	2856	c.2546T>G	c.(2545-2547)gTc>gGc	p.V849G	ERBB4_ENST00000436443.1_Missense_Mutation_p.V849G|ERBB4_ENST00000402597.1_Missense_Mutation_p.V839G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	849	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTTCACTAAGACATTACGGGC	0.418000										TSP Lung(8;0.080)			43	57					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28356949	28356949	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:28356949A>T	ENST00000261609.7	-	93	14573	c.14465T>A	c.(14464-14466)tTt>tAt	p.F4822Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4822					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCCGAAGCAAAGGAGTCGAC	0.537000													15	72					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138678316	138678316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:138678316G>T	ENST00000298480.5	+	29	3525	c.3451G>T	c.(3451-3453)Gag>Tag	p.E1151*	KCNT1_ENST00000371757.2_Nonsense_Mutation_p.E1151*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.E1125*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.E1108*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.E1116*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.E1129*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.E1130*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.E1106*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1151						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGCTCTCCGAGCTGGTGAA	0.731000													10	15					2.27111e-07	2.83651e-07	1	1	0
CCDC74B	91409	broad.mit.edu	37	2	130897181	130897181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:130897181G>A	ENST00000392984.3	-	7	2139	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	CCDC74B_ENST00000409943.3_Nonsense_Mutation_p.Q298*|CCDC74B_ENST00000310463.6_Nonsense_Mutation_p.Q364*			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	364										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					AGCCTCTTCTGCCTCTCGGCA	0.642000													14	23					0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69207142	69207142	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:69207142T>A	ENST00000377938.2	+	5	518	c.455T>A	c.(454-456)aTt>aAt	p.I152N		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	152	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GGAAAAAACATTGCAAACATG	0.512000													5	74					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761970	164761970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:164761970G>T	ENST00000420696.2	+	3	693	c.505G>T	c.(505-507)Gag>Tag	p.E169*	PBX1_ENST00000367897.1_Nonsense_Mutation_p.E169*|PBX1_ENST00000540236.1_Nonsense_Mutation_p.E169*|PBX1_ENST00000540246.1_Nonsense_Mutation_p.E64*|PBX1_ENST00000560641.1_Nonsense_Mutation_p.E64*|PBX1_ENST00000559240.1_Nonsense_Mutation_p.E169*|PBX1_ENST00000401534.1_Nonsense_Mutation_p.E169*	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	169					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGAGAAATACGAGCAGGTAAC	0.552000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								9	48					0.000274275	0.000307786	1	1	0
PRSS1	5644	broad.mit.edu	37	7	142460862	142460862	+	Silent	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:142460862C>G	ENST00000486171.1	+	6	794	c.777C>G	c.(775-777)gcC>gcG	p.A259A	PRSS1_ENST00000311737.7_Silent_p.A245A			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	245					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCATAGCTGCCAATAGCTAAA	0.488000													6	109					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917894	144917894	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:144917894G>T	ENST00000529945.1	-	7	2320	c.1881C>A	c.(1879-1881)gaC>gaA	p.D627E	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.D251E|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.D464E|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.D464E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.D464E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D464E|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D601E|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.D627E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D601E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D530E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	464					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAAGGGTTTTGTCTGAGTTAT	0.363000			T	PDGFRB	MPD								7	371					3.09899e-07	3.84635e-07	1	1	0
IL16	3603	broad.mit.edu	37	15	81571979	81571979	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:81571979C>A	ENST00000394660.2	+	8	1305	c.945C>A	c.(943-945)ccC>ccA	p.P315P	IL16_ENST00000302987.4_Silent_p.P315P	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	315	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCTGTCTCCCCCACTGTGCC	0.627000													7	42					0.0293803	0.0300859	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85459342	85459342	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:85459342T>C	ENST00000316356.4	-	3	790	c.226A>G	c.(226-228)Atg>Gtg	p.M76V	SYTL2_ENST00000389960.4_Missense_Mutation_p.M76V|SYTL2_ENST00000524452.1_Missense_Mutation_p.M76V|SYTL2_ENST00000527523.1_Missense_Mutation_p.M28V|SYTL2_ENST00000528231.1_Missense_Mutation_p.M76V			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	76					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTCTTTCTCATAGATGCTCTG	0.483000													14	86					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049149	90049149	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:90049149G>T	ENST00000330947.2	+	5	1300	c.940G>T	c.(940-942)Gtc>Ttc	p.V314F	LRRC8B_ENST00000439853.1_Missense_Mutation_p.V314F|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.V314F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	314						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AATCTTTAAGGTCCTGGCTTC	0.428000													36	93					2.04263e-09	2.74651e-09	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043561	20043561	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:20043561G>A	ENST00000570682.1	-	2	858	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	186						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGAAGCAGTGGATCCAGATGA	0.507000													7	66					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731236	21731236	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:21731236G>T	ENST00000584755.1	+	2	935	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAATGTGAAGGCCAAGATCCA	0.532000													13	60					5.50884e-06	6.49956e-06	1	1	0
HPR	3250	broad.mit.edu	37	16	72110594	72110594	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:72110594G>A	ENST00000540303.2	+	5	693	c.661G>A	c.(661-663)Ggt>Agt	p.G221S	HPR_ENST00000356967.5_Missense_Mutation_p.G221S|HPR_ENST00000228226.8_Missense_Mutation_p.G258S|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	221	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				AGGGCGTGTGGGTTACGTGTC	0.453000													10	96					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63727072	63727072	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:63727072G>T	ENST00000421025.1	+	5	1330	c.1061G>T	c.(1060-1062)tGt>tTt	p.C354F	ZNF679_ENST00000255746.4_Missense_Mutation_p.C354F	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCCTACAAATGTAAAGAATGT	0.393000													12	20					0.00136819	0.00149599	1	1	0
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000													12	68					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251866	19251866	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:19251866G>T	ENST00000527884.1	-	9	1512	c.1280C>A	c.(1279-1281)tCt>tAt	p.S427Y	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.S427Y	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	427					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAATTCTGAGAACTCTCAGC	0.418000													12	62					6.40141e-05	7.32115e-05	1	1	0
LHFPL5	222662	broad.mit.edu	37	6	35773498	35773498	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:35773498C>A	ENST00000360215.1	+	1	428	c.51C>A	c.(49-51)aaC>aaA	p.N17K	LHFPL5_ENST00000373853.1_Missense_Mutation_p.N17K	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	17						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACCATACCAACTATGTGCGGA	0.617000													35	118					3.76114e-14	5.80206e-14	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518976	113518976	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:113518976T>C	ENST00000284601.3	-	4	2239	c.2171A>G	c.(2170-2172)aAa>aGa	p.K724R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	724					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						AGCTTCTGCTTTCTCAGTAAT	0.393000													10	144					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48234320	48234320	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:48234320G>T	ENST00000394747.1	-	14	2298	c.1949C>A	c.(1948-1950)tCc>tAc	p.S650Y	ABCC11_ENST00000394748.1_Missense_Mutation_p.S650Y|ABCC11_ENST00000353782.5_Missense_Mutation_p.S650Y|ABCC11_ENST00000356608.2_Missense_Mutation_p.S650Y|ABCC11_ENST00000537808.1_Missense_Mutation_p.S650Y	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	650	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGACGGTCGGAATAGACGGC	0.592000													39	37					5.71845e-15	9.07956e-15	1	1	0
CD1B	910	broad.mit.edu	37	1	158299843	158299843	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:158299843G>C	ENST00000368168.3	-	3	513	c.406C>G	c.(406-408)Cta>Gta	p.L136V		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	136					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)					AATCCTCCTAGAGCTCCCCTC	0.493000													146	168					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706631	128706631	+	Silent	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:128706631C>G	ENST00000265068.5	-	4	662	c.495G>C	c.(493-495)tcG>tcC	p.S165S	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Silent_p.S53S|KIAA1257_ENST00000511438.1_Silent_p.S165S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	165										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGCTCCCACGACACCCAGG	0.433000													16	17					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371125	240371125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:240371125G>T	ENST00000319653.9	+	5	3243	c.3013G>T	c.(3013-3015)Gga>Tga	p.G1005*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1005	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCACTTCCCGGAGCGGGCAT	0.721000													12	17					1.37285e-15	2.1973e-15	1	1	0
ZNF677	342926	broad.mit.edu	37	19	53740937	53740937	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:53740937T>G	ENST00000333952.4	-	5	1208	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	ZNF677_ENST00000598513.1_Missense_Mutation_p.K348T			Q86XU0	ZN677_HUMAN	zinc finger protein 677	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTCATTACATTTGTAAGGTTT	0.378000													9	52					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432744	73432744	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:73432744C>A	ENST00000263666.4	-	10	3087	c.2973G>T	c.(2971-2973)cgG>cgT	p.R991R	PDZRN3_ENST00000462146.2_Silent_p.R648R|PDZRN3_ENST00000535920.1_Silent_p.R713R|PDZRN3_ENST00000466780.1_Silent_p.R648R|PDZRN3_ENST00000479530.1_Silent_p.R708R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	991							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGAACTCGCGCCGCCGCCGCT	0.582000													56	138					2.23044e-30	3.98674e-30	1	1	0
SYN3	8224	broad.mit.edu	37	22	32934075	32934075	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:32934075G>A	ENST00000358763.2	-	9	1181	c.939C>T	c.(937-939)aaC>aaT	p.N313N	SYN3_ENST00000332840.5_Silent_p.N313N	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	313	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGCCTTCCAGTTCCCAGAGA	0.522000													14	58					0	0	1	0	0
MRPL18	29074	broad.mit.edu	37	6	160212138	160212138	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:160212138C>T	ENST00000367034.4	+	2	341	c.219C>T	c.(217-219)ccC>ccT	p.P73P	MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	73					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		CGGTGTTTCCCTCCCGTGAGT	0.522000													7	22					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15703571	15703571	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:15703571C>A	ENST00000396368.3	-	20	3969	c.3763G>T	c.(3763-3765)Gat>Tat	p.D1255Y	KIAA0430_ENST00000551742.1_Missense_Mutation_p.D1255Y|KIAA0430_ENST00000540441.2_Missense_Mutation_p.D1090Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.D1252Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D857Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D1252Y|CTB-193M12.1_ENST00000549756.1_RNA	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1254						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCTATTTCATCCTGAGTGCGT	0.363000													5	15					0.184627	0.18556	1	1	0
TRHR	7201	broad.mit.edu	37	8	110100421	110100421	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:110100421C>A	ENST00000518632.1	+	2	1031	c.680C>A	c.(679-681)cCt>cAt	p.P227H	TRHR_ENST00000311762.2_Missense_Mutation_p.P227H			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	227						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCTTCAGATCCTAAAGAAAAC	0.368000													19	49					8.00594e-06	9.42711e-06	1	1	0
S1PR1	1901	broad.mit.edu	37	1	101705330	101705330	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:101705330G>A	ENST00000305352.6	+	2	1165	c.790G>A	c.(790-792)Gtc>Atc	p.V264I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	264					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.V264I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGTCCTGAGCGTCTTCATCGC	0.587000													62	134					0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32688847	32688847	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:32688847A>G	ENST00000225842.3	-	2	214	c.145T>C	c.(145-147)Tgt>Cgt	p.C49R		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	49					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		TTTCTGTAACACAGGATTGCC	0.498000											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	195					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934627	30934627	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:30934627G>C	ENST00000355537.3	+	2	305	c.158G>C	c.(157-159)cGg>cCg	p.R53P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	53					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)					CTCCATCCCCGGCCCAACCCC	0.667000													36	101					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755457	140755457	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:140755457T>A	ENST00000517434.1	+	1	1807	c.1807T>A	c.(1807-1809)Tgg>Agg	p.W603R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAACGCCTGGCTGTCCTA	0.692000													51	111					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361083	105361083	+	Silent	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:105361083T>A	ENST00000297581.2	+	2	352	c.303T>A	c.(301-303)gcT>gcA	p.A101A	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.A101A	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	101					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGATTGCAGCTGGCACAGGGA	0.448000													21	37					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55098720	55098720	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:55098720G>T	ENST00000251377.3	+	9	1492	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.M436I|LILRA2_ENST00000391737.1_Missense_Mutation_p.M424I|LILRA2_ENST00000391738.3_Missense_Mutation_p.M453I|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCATCCGCATGGGTGTGGCTG	0.582000													18	53					1.2644e-06	1.54682e-06	1	1	0
BRSK1	84446	broad.mit.edu	37	19	55815089	55815089	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:55815089G>T	ENST00000309383.1	+	12	1458	c.1181G>T	c.(1180-1182)cGa>cTa	p.R394L	BRSK1_ENST00000590333.1_Missense_Mutation_p.R410L|BRSK1_ENST00000326848.7_Missense_Mutation_p.R89L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	394					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGGAAGCGGCGACCAGAGCGG	0.627000													33	69					9.04072e-19	1.50763e-18	1	1	0
DYSF	8291	broad.mit.edu	37	2	71742833	71742833	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:71742833G>C	ENST00000258104.3	+	7	1021	c.744G>C	c.(742-744)caG>caC	p.Q248H	DYSF_ENST00000429174.2_Missense_Mutation_p.Q248H|DYSF_ENST00000413539.2_Missense_Mutation_p.Q279H|DYSF_ENST00000410020.3_Missense_Mutation_p.Q280H|DYSF_ENST00000409582.3_Missense_Mutation_p.Q279H|DYSF_ENST00000410041.1_Missense_Mutation_p.Q280H|DYSF_ENST00000409762.1_Missense_Mutation_p.Q279H|DYSF_ENST00000409651.1_Missense_Mutation_p.Q280H|DYSF_ENST00000409366.1_Missense_Mutation_p.Q249H|DYSF_ENST00000394120.2_Missense_Mutation_p.Q249H|DYSF_ENST00000409744.1_Missense_Mutation_p.Q249H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	248	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGCAGGGCAGACCAAGCGGA	0.602000													27	113					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42147884	42147884	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:42147884C>A	ENST00000320955.6	-	54	9308	c.9081G>T	c.(9079-9081)atG>atT	p.M3027I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3027					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTGTGGCCCATGTCCTCGC	0.667000													8	9					1	1	1	1	0
C7orf34	135927	broad.mit.edu	37	7	142637651	142637651	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:142637651C>A	ENST00000409607.3	+	2	462	c.421C>A	c.(421-423)Ctc>Atc	p.L141I		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	116						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AAATATCCAACTCTGCTTCAT	0.537000													31	64					3.57733e-08	4.61267e-08	1	1	0
AGAP3	116988	broad.mit.edu	37	7	150839652	150839652	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:150839652A>G	ENST00000397238.2	+	16	2204	c.2204A>G	c.(2203-2205)aAt>aGt	p.N735S	AGAP3_ENST00000463381.1_Missense_Mutation_p.N404S	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	699	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCCATGGGCAATGCCCTCGCC	0.672000													12	69					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217234623	217234623	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:217234623C>A	ENST00000273067.4	-	1	2127	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	121	Pro-rich.					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTGGCTGGGCCACCCCAGTCA	0.642000													18	18					5.01169e-05	5.77603e-05	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135587487	135587487	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:135587487C>G	ENST00000513104.1	-	6	1711	c.1429G>C	c.(1429-1431)Ggg>Cgg	p.G477R	TRPC7_ENST00000426057.2_Missense_Mutation_p.G361R|TRPC7_ENST00000355180.3_Missense_Mutation_p.G416R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	477					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACAGCATCCCGAAATCTAGC	0.572000													14	52					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98581766	98581766	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:98581766A>T	ENST00000359863.4	+	60	9294	c.9085A>T	c.(9085-9087)Aac>Tac	p.N3029Y	TRRAP_ENST00000446306.3_Missense_Mutation_p.N3000Y|TRRAP_ENST00000355540.3_Missense_Mutation_p.N3000Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3029	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTTCAAATAACGCTATGCT	0.448000													41	75					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32179896	32179896	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:32179896G>T	ENST00000400246.1	+	9	629	c.487G>T	c.(487-489)Gtg>Ttg	p.V163L	DEPDC5_ENST00000382105.2_Missense_Mutation_p.V163L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V163L|DEPDC5_ENST00000400242.3_Missense_Mutation_p.V163L|DEPDC5_ENST00000536766.1_Missense_Mutation_p.V135L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V163L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V163L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V163L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V163L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V163L			O75140	DEPD5_HUMAN	DEP domain containing 5	163					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTTCAGGTGGTGTTTCGTTC	0.338000													18	149					0.000958276	0.00105357	1	1	0
TRMT5	57570	broad.mit.edu	37	14	61442312	61442312	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:61442312G>A	ENST00000261249.6	-	4	1709	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	442						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCCTCCAGAGAAATGCCTAA	0.483000													18	62					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645742	236645742	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:236645742G>A	ENST00000359362.5	+	6	625	c.411G>A	c.(409-411)ggG>ggA	p.G137G	EDARADD_ENST00000334232.4_Silent_p.G147G	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	147	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCAAATGGGGGATGTCCTATG	0.522000													34	51					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152158990	152158990	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:152158990C>A	ENST00000439251.1	-	2	1591	c.1153G>T	c.(1153-1155)Ggc>Tgc	p.G385C	PNMA5_ENST00000452693.1_Missense_Mutation_p.G385C|PNMA5_ENST00000535214.1_Missense_Mutation_p.G385C|PNMA5_ENST00000361887.5_Missense_Mutation_p.G385C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	385					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGTAAGCCTCCCTGTATG	0.582000													51	89					7.77372e-23	1.3491e-22	1	1	0
RTTN	25914	broad.mit.edu	37	18	67872503	67872503	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr18:67872503C>A	ENST00000255674.6	-	2	366	c.80G>T	c.(79-81)tGc>tTc	p.C27F	RTTN_ENST00000454359.1_Missense_Mutation_p.C27F|RTTN_ENST00000437017.1_Missense_Mutation_p.C27F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	27							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTCAATCTTGCAGAGAATACT	0.468000													29	46					8.88839e-20	1.50322e-19	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96955684	96955684	+	Silent	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:96955684T>C	ENST00000323853.5	-	21	2870	c.2793A>G	c.(2791-2793)cgA>cgG	p.R931R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	931						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						GGGTTGGGGATCGCAGCATTC	0.532000													7	75					0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809565	809565	+	RNA	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:809565C>A	ENST00000446136.1	-	0	1128					NR_027055.1																						AATGTTCAGGCGCAAGGCCTT	0.517000													31	131					2.61193e-14	4.06074e-14	1	1	0
CALCR	799	broad.mit.edu	37	7	93065265	93065265	+	Splice_Site	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:93065265T>A	ENST00000359558.2	-	14	1549	c.1251_splice	c.e14+1	p.Q417_splice	CALCR_ENST00000426151.1_Splice_Site_p.Q383_splice|CALCR_ENST00000360249.4_Splice_Site_p.Q399_splice|CALCR_ENST00000394441.1_Splice_Site_p.Q383_splice|CALCR_ENST00000421592.1_Splice_Site_p.Q399_splice	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	399					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTTCCTTACCTGGAAATGAAT	0.388000													12	25					0	0	1	0	0
IGSF6	10261	broad.mit.edu	37	16	21658471	21658471	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:21658471G>T	ENST00000268389.4	-	2	471	c.410C>A	c.(409-411)aCc>aAc	p.T137N	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	137					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)		CACCAGTGTGGTCCCTCCTCC	0.453000													16	106					1.3612e-06	1.6517e-06	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70502175	70502175	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:70502175G>C	ENST00000310961.5	+	21	2475	c.2057G>C	c.(2056-2058)aGt>aCt	p.S686T	LRRC7_ENST00000035383.5_Missense_Mutation_p.S681T|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	681						centrosome|focal adhesion|nucleolus	protein binding	p.S681N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGAATAACAGTGTTTCCTCA	0.428000													23	44					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220579	1220579	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:1220579G>T	ENST00000326873.7	+	5	1770		c.e5-1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCGCCACAGGCACTGCACC	0.726000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	3					0.150653	0.151926	1	1	0
C15orf39	56905	broad.mit.edu	37	15	75500340	75500340	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:75500340T>A	ENST00000360639.2	+	2	2271	c.1951T>A	c.(1951-1953)Ttc>Atc	p.F651I	C15orf39_ENST00000394987.4_Missense_Mutation_p.F651I|C15orf39_ENST00000567617.1_Missense_Mutation_p.F651I			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	651										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCTTCATGTTCCGAAAGTT	0.602000													17	118					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161146916	161146916	+	RNA	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:161146916T>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						GGACTCAGTTTAGATGATCCC	0.363000													7	72					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134048	91134048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:91134048C>T	ENST00000373094.1	+	2	3654	c.2809C>T	c.(2809-2811)Cga>Tga	p.R937*	PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R937*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R937*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R937*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R937*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R937*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.R937*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R937*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R937*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	937					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						TGATTTGGCCCGACACTACAA	0.473000													30	198					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566235	136566235	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:136566235C>A	ENST00000264162.2	-	8	3692	c.3682G>T	c.(3682-3684)Gac>Tac	p.D1228Y		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1228	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCTGGTCGTCTTCGTAGGAG	0.592000													13	135					1.05317e-09	1.42572e-09	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25473956	25473956	+	RNA	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:25473956G>T	ENST00000453082.2	+	0	1268					NR_003343.1																						ACTTGTGTTGGGCCCACAGGC	0.577000													3	13					0.115264	0.117028	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761925	55761925	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:55761925C>A	ENST00000278409.1	-	1	176	c.177G>T	c.(175-177)atG>atT	p.M59I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	59					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)					GGAAGAAATACATGGGTGTGT	0.408000													19	50					6.94344e-10	9.48566e-10	1	1	0
ARHGAP5	394	broad.mit.edu	37	14	32562393	32562393	+	Missense_Mutation	SNP	A	A	G	rs151030401	byFrequency	TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:32562393A>G	ENST00000345122.3	+	2	2833	c.2518A>G	c.(2518-2520)Att>Gtt	p.I840V	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I840V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I840V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I840V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	840					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CCACTCTTCAATTGGAGTAAG	0.368000													24	55					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15758648	15758648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:15758648G>T	ENST00000396355.1	+	3	839	c.13G>T	c.(13-15)Gga>Tga	p.G5*	NDE1_ENST00000396353.2_Nonsense_Mutation_p.G5*|NDE1_ENST00000342673.5_Nonsense_Mutation_p.G5*|NDE1_ENST00000396354.1_Nonsense_Mutation_p.G5*	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	5	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGAGGACTCCGGAAAGACTTT	0.458000													13	127					9.31168e-06	1.09001e-05	1	1	0
MED12	9968	broad.mit.edu	37	X	70349190	70349190	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:70349190C>A	ENST00000333646.6	+	26	3801	c.3602C>A	c.(3601-3603)tCc>tAc	p.S1201Y	MED12_ENST00000374080.3_Missense_Mutation_p.S1201Y|MED12_ENST00000374102.1_Missense_Mutation_p.S1201Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1201					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATCCGCTCCTCCTGCGAC	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	33					0.00307968	0.00331274	1	1	0
PTPN4	5775	broad.mit.edu	37	2	120703968	120703968	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:120703968G>T	ENST00000263708.2	+	17	2338	c.1567G>T	c.(1567-1569)Gat>Tat	p.D523Y	PTPN4_ENST00000544261.1_Missense_Mutation_p.D156Y	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	523	PDZ.					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)	AATGAAACCTGATGAAAATGG	0.269000													10	86					0.0135373	0.0141785	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87170780	87170780	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:87170780C>T	ENST00000265724.3	-	19	2629	c.2211_splice	c.e19-1	p.V738_splice	ABCB1_ENST00000543898.1_Splice_Site_p.V674_splice	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	738	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTGTAAAAACCTGTGAGAAA	0.363000													9	50					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79933805	79933805	+	Silent	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:79933805T>C	ENST00000438737.2	-	10	1874	c.1434A>G	c.(1432-1434)aaA>aaG	p.K478K	RBM26_ENST00000267229.7_Silent_p.K478K|RBM26_ENST00000438724.1_Silent_p.K478K			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	478					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCATACTGCTTTTATTGGGAG	0.338000													8	62					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33503017	33503017	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:33503017G>A	ENST00000268876.5	+	15	2092	c.1995G>A	c.(1993-1995)aaG>aaA	p.K665K	UNC45B_ENST00000591048.1_Silent_p.K584K|UNC45B_ENST00000394570.2_Silent_p.K663K|UNC45B_ENST00000433649.1_Silent_p.K663K|UNC45B_ENST00000378449.1_Silent_p.K584K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	665					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACAACCCAAAGGACCGAGGCA	0.547000													25	51					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112420977	112420977	+	Missense_Mutation	SNP	C	C	T	rs140863211	byFrequency	TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:112420977C>T	ENST00000302475.4	-	7	1422	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	MCC_ENST00000408903.3_Missense_Mutation_p.V477M|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.V224M	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	287					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)		GTGGCCTGCACGCTCTGTAGT	0.542000													68	187					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279741	153279741	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:153279741T>A	ENST00000290722.1	-	2	110	c.58A>T	c.(58-60)Act>Tct	p.T20S		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	20					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGGTGGGAGTATCTGTAGGG	0.627000													10	12					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11784668	11784668	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:11784668C>A	ENST00000262442.3	+	55	10812	c.10744C>A	c.(10744-10746)Ctg>Atg	p.L3582M	DNAH9_ENST00000454412.2_Missense_Mutation_p.L3582M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3582	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGGATGGCCTGGAGGACCA	0.587000													27	44					1.42536e-11	2.03088e-11	1	1	0
APOB	338	broad.mit.edu	37	2	21226163	21226163	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:21226163C>A	ENST00000233242.1	-	29	12258	c.12131G>T	c.(12130-12132)aGg>aTg	p.R4044M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4044					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCCCGGACCCTCAACTCAGT	0.393000													20	417					1.50039e-11	2.1327e-11	1	1	0
RPA1	6117	broad.mit.edu	37	17	1782684	1782684	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:1782684C>G	ENST00000254719.5	+	10	1045	c.935C>G	c.(934-936)tCg>tGg	p.S312W		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	312					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GAGAACAAGTCGAAAGACTCA	0.488000								Nucleotide excision repair (NER)					19	38					0	0	1	0	0
CHCHD2	51142	broad.mit.edu	37	7	56174072	56174072	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:56174072A>T	ENST00000395422.3	-	1	197	c.35T>A	c.(34-36)aTg>aAg	p.M12K		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	12						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGAGGGGCCATGCGGGAGGT	0.672000													28	94					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30316856	30316856	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr21:30316856G>T	ENST00000361371.4	-	22	3981	c.3831C>A	c.(3829-3831)agC>agA	p.S1277R	LTN1_ENST00000389194.2_Missense_Mutation_p.S1323R	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1277							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCAAATCACAGCTGACACAGG	0.373000													4	31					0.000602214	0.000664551	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133543028	133543028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:133543028G>T	ENST00000409261.1	-	14	1729	c.1356C>A	c.(1354-1356)tgC>tgA	p.C452*	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.C452*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	452							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAGCTGTTTTGCAGGGGGGAT	0.463000													8	38					0.0381472	0.0389964	1	1	0
CACNA1G	8913	broad.mit.edu	37	17	48699021	48699021	+	Splice_Site	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:48699021A>T	ENST00000354983.4	+	33	6196	c.5823_splice	c.e33-1	p.I1942_splice	CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000359106.5_Splice_Site_p.I1976_splice|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000507336.1_Splice_Site_p.I1965_splice|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000502264.1_Splice_Site_p.I1905_splice|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000513964.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1976					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCTGTCTAGATCCCTCTAGC	0.557000													5	42					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889611	23889611	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:23889611C>A	ENST00000532292.1	-	1	1564	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TATGGTAGCCCAGCTTGTTGA	0.428000													14	29					2.32078e-09	3.09957e-09	1	1	0
CDH10	1008	broad.mit.edu	37	5	24593505	24593505	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:24593505G>T	ENST00000264463.4	-	2	602	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	32					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTTTGCTGTGGCACAGGCGT	0.393000										HNSCC(23;0.051)			45	103					2.68985e-26	4.72306e-26	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20698292	20698292	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:20698292T>A	ENST00000404938.2	+	14	2352	c.1700T>A	c.(1699-1701)cTg>cAg	p.L567Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.L122Q|ABCB5_ENST00000443026.2_Missense_Mutation_p.L122Q|ABCB5_ENST00000406935.1_Missense_Mutation_p.L122Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	122					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAAGCTGCACTGGAGAAGGTA	0.408000													9	46					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57219586	57219586	+	Silent	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:57219586T>C	ENST00000205214.6	-	9	1740	c.1560A>G	c.(1558-1560)ctA>ctG	p.L520L	AASDH_ENST00000602986.1_Silent_p.L367L|AASDH_ENST00000451613.1_Silent_p.L520L|AASDH_ENST00000513376.1_Silent_p.L420L|AASDH_ENST00000434343.2_Silent_p.L35L|AASDH_ENST00000502617.1_Silent_p.L520L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	520					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ATGTAAATGGTAGAGAGTCGA	0.328000													17	37					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43293976	43293976	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:43293976G>T	ENST00000374518.4	+	12	2213	c.2150G>T	c.(2149-2151)cGt>cTt	p.R717L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	717					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGTTGTTTCGTGTCAACCAG	0.453000													27	61					4.87955e-14	7.45037e-14	1	1	0
MYH8	4626	broad.mit.edu	37	17	10323377	10323377	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:10323377G>T	ENST00000403437.2	-	3	262	c.168C>A	c.(166-168)agC>agA	p.S56R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	56	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCCTTCTTTGCTTTGTATAG	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				68	131					3.89499e-28	6.90002e-28	1	1	0
RYR3	6263	broad.mit.edu	37	15	34129142	34129142	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:34129142G>T	ENST00000389232.4	+	88	11674	c.11604G>T	c.(11602-11604)ttG>ttT	p.L3868F	RYR3_ENST00000415757.3_Missense_Mutation_p.L3863F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3868					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGAACTCTTGGATCTCCTTC	0.498000													4	11					0.014758	0.0153493	1	1	0
PRPF40B	25766	broad.mit.edu	37	12	50029010	50029010	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:50029010A>G	ENST00000261897.1	+	12	1597	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G	PRPF40B_ENST00000380281.1_Missense_Mutation_p.E355G|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E377G			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	355					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CATTTCCTGGAGCAGCATGAA	0.617000													31	41					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175170	63175170	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:63175170T>A	ENST00000322893.7	-	11	2291	c.2023A>T	c.(2023-2025)Atc>Ttc	p.I675F	KCNH5_ENST00000420622.2_Missense_Mutation_p.H609L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	675					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTACGAAAGATGATCTGTGGA	0.448000													12	63					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067570	175067570	+	Missense_Mutation	SNP	G	G	A	rs142549967		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:175067570G>A	ENST00000239462.4	+	9	2071	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	653	Fibronectin type-III 5.				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)		TACGTGGTGCGCTACACCTCT	0.602000													83	72					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121563451	121563451	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:121563451G>A	ENST00000275159.6	-	18	2052	c.2053C>T	c.(2053-2055)Cta>Tta	p.L685L	TBC1D32_ENST00000398212.2_Silent_p.L685L					TBC1 domain family, member 32																		GCAAAATGTAGTAAATCATCT	0.318000													11	24					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50311108	50311108	+	RNA	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701000											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	33					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516278	140516278	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:140516278C>T	ENST00000231134.5	+	1	1479	c.1262C>T	c.(1261-1263)aCt>aTt	p.T421I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		421	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCACCATCACTGTCACCGAC	0.522000													38	123					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141081582	141081582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:141081582C>A	ENST00000389484.3	-	81	13365	c.12394G>T	c.(12394-12396)Gga>Tga	p.G4132*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4132					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTAGGTCCTGCTCCATAT	0.299000										TSP Lung(27;0.18)			8	65					0.00307968	0.00331274	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42533124	42533124	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr18:42533124G>A	ENST00000282030.5	+	4	4115	c.3819G>A	c.(3817-3819)acG>acA	p.T1273T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1273						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)		GTGGCAGCACGAGATCAGAGA	0.517000									Schinzel-Giedion syndrome				11	33					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37907472	37907472	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:37907472C>A	ENST00000199447.4	+	11	1162	c.790C>A	c.(790-792)Cct>Act	p.P264T	NME8_ENST00000440017.1_Missense_Mutation_p.P264T|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	264					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCAGGTTACACCTGGAATGAT	0.458000													14	22					0.000308642	0.000345702	1	1	0
IGKV5-2	28907	broad.mit.edu	37	2	89196852	89196852	+	RNA	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:89196852G>T	ENST00000390244.2	+	0	105																											TCCTCCTTTGGATCTCTGGTA	0.458000													14	10					4.3838e-07	5.41849e-07	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42532789	42532789	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr18:42532789C>A	ENST00000282030.5	+	4	3780	c.3484C>A	c.(3484-3486)Cgg>Agg	p.R1162R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1162			R -> W (in a colorectal cancer sample; somatic mutation).			nucleus	DNA binding	p.R1108W(1)		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)		CAAGGAAGACCGGATCCTAGG	0.552000									Schinzel-Giedion syndrome				34	49					4.74835e-14	7.26863e-14	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20702397	20702397	+	Silent	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:20702397T>C	ENST00000307493.4	-	1	181	c.114A>G	c.(112-114)ccA>ccG	p.P38P	ACSM1_ENST00000520010.1_Silent_p.P38P|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	38					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATTCCATCTTGGGGCTCCAA	0.507000													40	112					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61448649	61448649	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:61448649C>T	ENST00000398571.2	-	66	7963	c.7887G>A	c.(7885-7887)caG>caA	p.Q2629Q	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2629					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCCATATCCTCTGCAGAATAT	0.378000													10	20					0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114540880	114540880	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:114540880C>T	ENST00000371920.3	+	4	460	c.453C>T	c.(451-453)ggC>ggT	p.G151G	LUZP4_ENST00000451986.2_Silent_p.G69G	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	151						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AATCCCAGGGCCAACCAGAAG	0.468000													14	54					0	0	1	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808215	100808215	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:100808215G>T	ENST00000372829.3	+	4	673	c.302G>T	c.(301-303)gGa>gTa	p.G101V		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	101						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TCCCACAGCGGAGGTGGCCTA	0.567000													11	64					4.68919e-08	6.02031e-08	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57200007	57200007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:57200007C>A	ENST00000331162.4	-	2	295	c.25G>T	c.(25-27)Gga>Tga	p.G9*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCGGCTTCCAGGGGGTCCT	0.547000													41	91					1.15505e-17	1.91545e-17	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23830166	23830166	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:23830166C>A	ENST00000264867.2	-	5	733	c.614G>T	c.(613-615)cGt>cTt	p.R205L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	205					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CGAGCAGGGACGTCTTTGTGG	0.433000													60	144					1.14385e-22	1.96796e-22	1	1	0
BAHCC1	57597	broad.mit.edu	37	17	79426086	79426086	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:79426086C>T	ENST00000307745.7	+	25	5612	c.5612C>T	c.(5611-5613)tCg>tTg	p.S1871L																								ACAGCGCGCTCGTGTGCCATC	0.706000													6	16					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725498	41725498	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr21:41725498C>T	ENST00000400454.1	-	5	1305	c.828G>A	c.(826-828)acG>acA	p.T276T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	276	Ig-like C2-type 3.				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)				TGAGCAGCCCCGTCACGGTCT	0.567000													4	70					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771691	99771691	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:99771691C>A	ENST00000370185.3	+	7	1914	c.1417C>A	c.(1417-1419)Cca>Aca	p.P473T	LPPR4_ENST00000457765.1_Missense_Mutation_p.P415T|LPPR4_ENST00000370184.1_Missense_Mutation_p.P315T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		473							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGGGCAGTCACCACCCAGATC	0.512000													26	126					9.57634e-11	1.33577e-10	1	1	0
PSMB11	122706	broad.mit.edu	37	14	23511731	23511731	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:23511731C>A	ENST00000408907.2	+	1	356	c.297C>A	c.(295-297)gcC>gcA	p.A99A		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	99					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GCACCTCTGCCGACTGTGCTA	0.617000													34	73					4.74835e-14	7.26863e-14	1	1	0
CACNG8	59283	broad.mit.edu	37	19	54483184	54483184	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:54483184T>C	ENST00000270458.2	+	3	534	c.431T>C	c.(430-432)gTg>gCg	p.V144A		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	144					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CTCGGGGGTGTGTGCGTGGCG	0.642000													6	39					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958520	143958520	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:143958520G>T	ENST00000292427.4	-	3	546	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	CYP11B1_ENST00000377675.3_Missense_Mutation_p.L243M|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L172M	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	172					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TTCTTCTTCAGGGCCTGGGAG	0.612000									Familial Hyperaldosteronism type I				15	25					0.00152264	0.00166182	1	1	0
GPR25	2848	broad.mit.edu	37	1	200842207	200842207	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:200842207G>T	ENST00000304244.2	+	1	125	c.42G>T	c.(40-42)gcG>gcT	p.A14A		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	14						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGGGGTCAGCGCCCTGGGACT	0.716000													4	7					0.150653	0.151926	1	1	0
TRIM8	81603	broad.mit.edu	37	10	104417001	104417001	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:104417001C>T	ENST00000302424.6	+	6	1668	c.1546C>T	c.(1546-1548)Ctt>Ttt	p.L516F		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	516						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCCCCAGTCCCTTCCCAGCCT	0.672000													11	39					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21226161	21226161	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:21226161C>T	ENST00000233242.1	-	29	12260	c.12133G>A	c.(12133-12135)Gtc>Atc	p.V4045I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4045					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATTCCCGGACCCTCAACTCA	0.398000													19	415					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128367441	128367441	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:128367441G>T	ENST00000389524.4	+	24	3095	c.3042G>T	c.(3040-3042)tgG>tgT	p.W1014C	MYO7B_ENST00000428314.1_Missense_Mutation_p.W1014C|MYO7B_ENST00000409816.2_Missense_Mutation_p.W1014C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1014	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGGTCATATGGAACGTCATCC	0.587000													13	14					2.61681e-11	3.69323e-11	1	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55377875	55377875	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:55377875C>A	ENST00000326321.3	+	8	1189	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q386K|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.Q369K	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	386					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AGTGAATAGGCAGGTAGGTCC	0.547000													26	107					4.26978e-12	6.12754e-12	1	1	0
HAGH	3029	broad.mit.edu	37	16	1866946	1866946	+	Missense_Mutation	SNP	C	C	A	rs138102620		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr16:1866946C>A	ENST00000397356.3	-	7	1101	c.695G>T	c.(694-696)cGc>cTc	p.R232L	HAGH_ENST00000455446.2_Missense_Mutation_p.A196S|HAGH_ENST00000397353.2_Missense_Mutation_p.R184L|HAGH_ENST00000566709.1_Missense_Mutation_p.R184L	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	232					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CTCCACGTGGCGTGCAAACTT	0.612000													10	37					0.000978159	0.00107346	1	1	0
ZNF219	51222	broad.mit.edu	37	14	21558875	21558875	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:21558875C>A	ENST00000360947.3	-	5	2400	c.1989G>T	c.(1987-1989)ttG>ttT	p.L663F	ZNF219_ENST00000421093.2_Missense_Mutation_p.L663F|ZNF219_ENST00000451119.2_Missense_Mutation_p.L663F|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	663					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTTGAAGGTGCAAGGCCATGA	0.726000													15	21					6.31663e-08	7.98946e-08	1	1	0
C8orf74	203076	broad.mit.edu	37	8	10555359	10555359	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:10555359C>T	ENST00000304519.5	+	3	521	c.492C>T	c.(490-492)caC>caT	p.H164H	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	164										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TGTGGATCCACGAGCAGCAGG	0.677000													23	52					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159629	152159629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:152159629C>A	ENST00000439251.1	-	2	952	c.514G>T	c.(514-516)Gaa>Taa	p.E172*	PNMA5_ENST00000452693.1_Nonsense_Mutation_p.E172*|PNMA5_ENST00000535214.1_Nonsense_Mutation_p.E172*|PNMA5_ENST00000361887.5_Nonsense_Mutation_p.E172*	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	172					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTCTCTTCGCCTGGGCTA	0.517000													12	142					6.40141e-05	7.32115e-05	1	1	0
GRPEL1	80273	broad.mit.edu	37	4	7069712	7069712	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:7069712C>A	ENST00000264954.4	-	1	212	c.48G>T	c.(46-48)ttG>ttT	p.L16F		NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	16					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAGACAACGCCAAAGCAGGAA	0.697000													17	26					0.0285812	0.0294697	1	1	0
OR56A1	120796	broad.mit.edu	37	11	6048098	6048098	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:6048098G>C	ENST00000316650.5	-	1	873	c.837C>G	c.(835-837)atC>atG	p.I279M		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGATCAGGATGTCCATGG	0.478000													35	87					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11411701	11411701	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:11411701C>T	ENST00000304623.8	-	5	575	c.386G>A	c.(385-387)aGg>aAg	p.R129K	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R38K|CTNND2_ENST00000503622.1_Missense_Mutation_p.R38K|CTNND2_ENST00000359640.2_Missense_Mutation_p.R129K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	129					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGTAGTGACCTAATACAGGA	0.383000													21	44					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069339	6069339	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:6069339C>A	ENST00000381095.3	-	2	796	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G57C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G57C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G57C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G57C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	57					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTCTTAGGCCCCGGATTTTG	0.522000													23	77					7.87624e-14	1.19952e-13	1	1	0
RHBDL3	162494	broad.mit.edu	37	17	30611762	30611762	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:30611762A>G	ENST00000269051.4	+	3	234	c.220A>G	c.(220-222)Aaa>Gaa	p.K74E	RHBDL3_ENST00000538145.1_Missense_Mutation_p.K66E|RHBDL3_ENST00000536287.1_Intron	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	74	EF-hand 2.				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGACCCGCACAAAAGGGAGGT	0.577000													15	65					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49848010	49848010	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:49848010C>A	ENST00000333486.3	-	12	1565	c.1407G>T	c.(1405-1407)atG>atT	p.M469I		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	469	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTATGTGGTCCATGTCAACAA	0.592000													63	169					5.85407e-19	9.81708e-19	1	1	0
PPP1R18	170954	broad.mit.edu	37	6	30653377	30653377	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:30653377C>G	ENST00000274853.3	-	1	2295	c.419G>C	c.(418-420)aGa>aCa	p.R140T	PPP1R18_ENST00000399199.3_Missense_Mutation_p.R140T|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	140						cytoplasm|cytoskeleton	actin binding										TCTCTCTTCTCTTGACTCTCT	0.637000													18	211					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116617089	116617089	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:116617089C>A	ENST00000395715.3	-	4	1684	c.1107G>T	c.(1105-1107)caG>caT	p.Q369H	TRPS1_ENST00000519076.1_Missense_Mutation_p.Q310H|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q356H|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q356H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q360H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	356					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGGGTGAGTCTGAAGAAAAT	0.423000									Langer-Giedion syndrome				24	54					4.22769e-11	5.93867e-11	1	1	0
SLC7A2	6542	broad.mit.edu	37	8	17422489	17422489	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:17422489G>T	ENST00000470360.1	+	14	2045	c.1928G>T	c.(1927-1929)aGa>aTa	p.R643I	SLC7A2_ENST00000398090.3_Missense_Mutation_p.R643I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.R604I|SLC7A2_ENST00000004531.10_Missense_Mutation_p.R644I|SLC7A2_ENST00000494857.1_Missense_Mutation_p.R604I			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	604					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TATGGCATTAGACACAGCCTG	0.388000													9	10					0.000274275	0.000307786	1	1	0
SPERT	220082	broad.mit.edu	37	13	46287440	46287440	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:46287440C>A	ENST00000378966.3	+	2	588	c.172C>A	c.(172-174)Cgc>Agc	p.R58S	SPERT_ENST00000310521.1_Missense_Mutation_p.R94S			Q8NA61	SPERT_HUMAN	spermatid associated	94						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TCCACTGAACCGCTTCTCCTC	0.672000													23	67					6.21321e-17	1.02184e-16	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71802254	71802254	+	Silent	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:71802254T>C	ENST00000373545.3	-	31	3804	c.3366A>G	c.(3364-3366)caA>caG	p.Q1122Q	PHKA1_ENST00000339490.3_Silent_p.Q1151Q|PHKA1_ENST00000541944.1_Silent_p.Q1092Q|PHKA1_ENST00000373542.4_Silent_p.Q1164Q|PHKA1_ENST00000373539.3_Silent_p.Q1181Q			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1164					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CTACCTGTTCTTGAAGGAACA	0.413000													10	33					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143405	61143405	+	RNA	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:61143405T>A	ENST00000475015.1	-	0	933				C20orf166-AS1_ENST00000412495.1_RNA																							CCCCTCTCCCTGGCAGCCGGG	0.642000													40	59					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124510965	124510965	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:124510965C>A	ENST00000357628.3	-	7	853	c.255_splice	c.e7+1	p.K85_splice	POT1_ENST00000393329.1_Intron	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	85					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGAATTATACCTTCAGCCTGT	0.313000													8	25					0.000673444	0.000741782	1	1	0
INTS6	26512	broad.mit.edu	37	13	51957591	51957591	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:51957591C>A	ENST00000311234.4	-	9	1526	c.1054G>T	c.(1054-1056)Gtg>Ttg	p.V352L	INTS6_ENST00000497989.1_Missense_Mutation_p.V174L|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.V339L|INTS6_ENST00000490542.1_Missense_Mutation_p.V36L|INTS6_ENST00000463928.1_Intron	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	352					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTATTGCTCACGTACACCTGT	0.343000													7	31					2.0095e-06	2.41382e-06	1	1	0
GPR65	8477	broad.mit.edu	37	14	88477802	88477802	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:88477802G>T	ENST00000267549.3	+	2	1169	c.611G>T	c.(610-612)cGg>cTg	p.R204L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	204					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ATCTGCAACCGGAAAGTCTAC	0.413000													30	37					1.06801e-11	1.52902e-11	1	1	0
PPP6R2	9701	broad.mit.edu	37	22	50877098	50877098	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:50877098G>A	ENST00000359139.3	+	18	2348	c.1954G>A	c.(1954-1956)Gcg>Acg	p.A652T	PPP6R2_ENST00000216061.5_Missense_Mutation_p.A679T|PPP6R2_ENST00000395741.3_Missense_Mutation_p.A653T|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A652T	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	679						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GGATGGGAAGGCGAGCTTGGA	0.622000													4	60					0	0	1	0	0
KLF1	10661	broad.mit.edu	37	19	12995807	12995807	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:12995807G>T	ENST00000264834.4	-	3	1021	c.981C>A	c.(979-981)acC>acA	p.T327T		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	327					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTAGTGGCGGGTCAGCTCGT	0.652000													18	38					2.21704e-12	3.21255e-12	1	1	0
MMS22L	253714	broad.mit.edu	37	6	97634566	97634566	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:97634566C>T	ENST00000275053.4	-	15	2305	c.2039_splice	c.e15-1	p.R680_splice	MMS22L_ENST00000369251.2_Splice_Site_p.R640_splice	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	680					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATGCATACTCCTAAAAAGAA	0.343000													24	24					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724730	50724730	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:50724730A>T	ENST00000404971.1	-	15	4079	c.2740T>A	c.(2740-2742)Ttt>Att	p.F914I	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.F874I|NRXN1_ENST00000406316.2_Missense_Mutation_p.F874I|NRXN1_ENST00000405472.3_Missense_Mutation_p.F866I|NRXN1_ENST00000402717.3_Missense_Mutation_p.F866I|NRXN1_ENST00000401669.2_Missense_Mutation_p.F874I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	874	Laminin G-like 5.				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)			ATTCCATTAAATGTCAAGCTC	0.438000													20	48					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477712	128477712	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:128477712C>A	ENST00000325888.8	+	5	1133	c.872C>A	c.(871-873)aCc>aAc	p.T291N	FLNC_ENST00000346177.6_Missense_Mutation_p.T291N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	291					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGGCAACACCGTGCTGCAG	0.672000													9	36					0.0581538	0.0592454	1	1	0
NANP	140838	broad.mit.edu	37	20	25596776	25596776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:25596776C>A	ENST00000304788.3	-	2	758	c.532G>T	c.(532-534)Gga>Tga	p.G178*		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	178					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	p.G178R(1)		endometrium(2)|lung(2)|prostate(1)	5						GGTTGTACTCCGAGAAGATTG	0.473000													27	61					6.32553e-13	9.37058e-13	1	1	0
TM6SF1	53346	broad.mit.edu	37	15	83781563	83781563	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:83781563T>A	ENST00000322019.9	+	2	381	c.107T>A	c.(106-108)gTa>gAa	p.V36E	TM6SF1_ENST00000565774.1_Missense_Mutation_p.V36E|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.V36E|TM6SF1_ENST00000379390.6_Missense_Mutation_p.V36E			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	36						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGACTATTGTAGGGGTTGCT	0.507000													19	102					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170970	90170970	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:90170970C>A	ENST00000333209.3	-	2	810	c.292G>T	c.(292-294)Ggc>Tgc	p.G98C		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	98										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGGGATTGCCGGGAGAGTTG	0.552000													64	80					1.7104e-27	3.02103e-27	1	1	0
GPR98	84059	broad.mit.edu	37	5	89953995	89953995	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:89953995G>T	ENST00000405460.2	+	21	4748	c.4652G>T	c.(4651-4653)gGa>gTa	p.G1551V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1551					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTATATGGAGGAGCTCGTATT	0.358000													21	82					9.62636e-23	1.66578e-22	1	1	0
SEC23IP	11196	broad.mit.edu	37	10	121657964	121657964	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr10:121657964G>A	ENST00000369075.3	+	2	261	c.189G>A	c.(187-189)gaG>gaA	p.E63E	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	63	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTGGTGAGGAGGACAGCTTCC	0.453000													10	107					0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1904654	1904654	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:1904654G>T	ENST00000406638.2	+	4	1478	c.176G>T	c.(175-177)gGc>gTc	p.G59V	LSP1_ENST00000405957.2_Missense_Mutation_p.G59V|LSP1_ENST00000311604.3_Missense_Mutation_p.G121V|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.G249V	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	121					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CACAGGCCCGGCCTGCATGCC	0.562000													18	53					2.37509e-13	3.54482e-13	1	1	0
CCDC63	160762	broad.mit.edu	37	12	111342585	111342585	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:111342585G>T	ENST00000308208.5	+	11	1778	c.1536G>T	c.(1534-1536)agG>agT	p.R512S	CCDC63_ENST00000552694.1_Missense_Mutation_p.R433S|CCDC63_ENST00000545036.1_Missense_Mutation_p.R472S	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	512										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCAGCGACAGGTTGGATGATG	0.597000													63	43					1.33661e-31	2.39626e-31	1	1	0
SH3BP2	6452	broad.mit.edu	37	4	2831222	2831222	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:2831222G>T	ENST00000442312.2	+	8	852	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	SH3BP2_ENST00000452765.2_Missense_Mutation_p.A197S|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000511747.1_Missense_Mutation_p.A197S|SH3BP2_ENST00000503393.2_Missense_Mutation_p.A254S|SH3BP2_ENST00000435136.2_Missense_Mutation_p.A197S|SH3BP2_ENST00000356331.5_Missense_Mutation_p.A197S	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	197					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTCTGCAGATGCCCTGATGCA	0.637000									Cherubism				52	165					2.48909e-17	4.1163e-17	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88678445	88678445	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:88678445A>G	ENST00000394480.1	-	10	1412	c.1091T>C	c.(1090-1092)cTc>cCc	p.L364P	NTRK3_ENST00000355254.2_Missense_Mutation_p.L364P|NTRK3_ENST00000360948.2_Missense_Mutation_p.L364P|NTRK3_ENST00000542733.2_Missense_Mutation_p.L266P|NTRK3_ENST00000557856.1_Missense_Mutation_p.L364P|NTRK3_ENST00000357724.2_Missense_Mutation_p.L364P|NTRK3_ENST00000317501.3_Missense_Mutation_p.L364P|NTRK3_ENST00000558676.1_Missense_Mutation_p.L364P|NTRK3_ENST00000540489.2_Missense_Mutation_p.L364P	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	364	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTGTTGAAGAGCAGGCAGCC	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			12	150					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048695	175048695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:175048695C>A	ENST00000239462.4	+	3	749	c.636C>A	c.(634-636)tgC>tgA	p.C212*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	212	EGF-like 2.				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)		ACGGCGAGTGCGTGCGCGGCG	0.692000													6	15					0.00116845	0.00127993	1	1	0
C3orf20	84077	broad.mit.edu	37	3	14744759	14744759	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:14744759T>C	ENST00000253697.3	+	6	1320	c.868T>C	c.(868-870)Tgt>Cgt	p.C290R	C3orf20_ENST00000435614.1_Missense_Mutation_p.C168R|C3orf20_ENST00000412910.1_Missense_Mutation_p.C168R	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	290						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCAGGAGTTGTGTCGCCACAT	0.627000													41	102					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138870464	138870464	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:138870464A>T	ENST00000370557.1	-	14	2434	c.1407T>A	c.(1405-1407)tgT>tgA	p.C469*	ATP11C_ENST00000359686.2_Nonsense_Mutation_p.C472*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.C472*|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.C472*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.C472*|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	472					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTACAGTATGACATAAACACA	0.373000													5	47					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138870421	138870421	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:138870421T>C	ENST00000370557.1	-	14	2477	c.1450A>G	c.(1450-1452)Aca>Gca	p.T484A	ATP11C_ENST00000359686.2_Missense_Mutation_p.T487A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T487A|ATP11C_ENST00000327569.3_Missense_Mutation_p.T487A|ATP11C_ENST00000370543.1_Missense_Mutation_p.T487A|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	487					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCTGATTCTGTAGCTCCATCA	0.373000													6	43					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885795	88885795	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:88885795C>A	ENST00000319675.3	-	1	501	c.405G>T	c.(403-405)ctG>ctT	p.L135L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	135										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAAGTGATTCAGTGAGGCCC	0.562000													27	82					7.26314e-15	1.14409e-14	1	1	0
POMGNT1	55624	broad.mit.edu	37	1	46659586	46659586	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr1:46659586G>T	ENST00000371992.1	-	10	1541	c.891C>A	c.(889-891)aaC>aaA	p.N297K	POMGNT1_ENST00000371984.3_Missense_Mutation_p.N297K|POMGNT1_ENST00000371986.3_Missense_Mutation_p.N297K|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.N275K	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	297					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TGAGGACCTTGTTGTCTGGGA	0.532000													3	25					0.004672	0.00496296	1	1	0
TFPT	29844	broad.mit.edu	37	19	54618077	54618077	+	Silent	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:54618077G>A	ENST00000391759.1	-	2	432	c.27C>T	c.(25-27)acC>acT	p.T9T	TFPT_ENST00000391758.1_5'UTR|TFPT_ENST00000391757.1_Silent_p.T9T	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	9					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CGGCTGCCATGGTCCTGAGAG	0.647000			T	TCF3	pre-B ALL								48	171					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934626	30934626	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:30934626C>G	ENST00000355537.3	+	2	304	c.157C>G	c.(157-159)Cgg>Ggg	p.R53G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	53					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)					GCTCCATCCCCGGCCCAACCC	0.667000													37	104					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009036	88009036	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:88009036C>A	ENST00000276127.4	+	3	880	c.621C>A	c.(619-621)ccC>ccA	p.P207P	CPXCR1_ENST00000373111.1_Silent_p.P207P	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	207						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ACTACCGTCCCCTCACTGAGA	0.428000													4	26					0.000602214	0.000664551	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26812732	26812732	+	Silent	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:26812732G>T	ENST00000541819.2	-	8	1101	c.999C>A	c.(997-999)gcC>gcA	p.A333A	GABRB3_ENST00000545868.1_Silent_p.A192A|GABRB3_ENST00000400188.3_Silent_p.A206A|GABRB3_ENST00000311550.5_Silent_p.A277A|GABRB3_ENST00000299267.4_Silent_p.A277A			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	277					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACATACCGAGGGCAACTCTAG	0.368000													17	36					2.5808e-16	4.20966e-16	1	1	0
ARMC2	84071	broad.mit.edu	37	6	109179403	109179403	+	Splice_Site	SNP	C	C	T	rs140140644		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:109179403C>T	ENST00000392644.4	+	3	388	c.218_splice	c.e3-1	p.L74_splice	ARMC2_ENST00000368972.3_Intron	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	74							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TTATGCTAGCCTCCATGCATC	0.368000													5	9					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101997632	101997632	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:101997632C>A	ENST00000251127.6	-	7	865	c.784G>T	c.(784-786)Ggc>Tgc	p.G262C	NALCN_ENST00000376196.3_Missense_Mutation_p.G262C|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	262						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCATTAAAGCCACTGTAGCCC	0.398000													19	83					4.30721e-22	7.36792e-22	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039328	11039328	+	RNA	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr21:11039328C>G	ENST00000470054.1	-	0	875									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCATTTTATCTTCAATTTGA	0.378000													7	190					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13074220	13074220	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:13074220C>T	ENST00000399002.2	+	6	1096	c.822C>T	c.(820-822)caC>caT	p.H274H	SPTLC3_ENST00000378194.4_Silent_p.H274H	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	274					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCTTCAAACACAACAGTGAGT	0.418000													14	35					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065554	23065554	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:23065554G>T	ENST00000246006.4	-	1	1423	c.1276C>A	c.(1276-1278)Cag>Aag	p.Q426K		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	426	EGF-like 4; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCACGTCCTGGCACTGAGTC	0.652000													66	124					1.17253e-29	2.08333e-29	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296468	28296468	+	Silent	SNP	C	C	T	rs143254778		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr21:28296468C>T	ENST00000284987.5	-	8	2818	c.2697G>A	c.(2695-2697)acG>acA	p.T899T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	899	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGCACTGCACCGTTCTGGTGT	0.542000													25	44					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28387465	28387465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:28387465C>T	ENST00000261609.7	-	76	11727	c.11619G>A	c.(11617-11619)tgG>tgA	p.W3873*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3873					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCTCCGGAACCAGGCCCACT	0.537000													12	37					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428499	57428499	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:57428499C>A	ENST00000371100.4	+	1	731	c.179C>A	c.(178-180)cCc>cAc	p.P60H	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P60H|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P60H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGCCCATCCCCGTCGAGAAT	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	14					2.0095e-06	2.41382e-06	1	1	0
UACA	55075	broad.mit.edu	37	15	70976721	70976721	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:70976721C>T	ENST00000322954.6	-	8	852	c.667G>A	c.(667-669)Ggt>Agt	p.G223S	UACA_ENST00000560441.1_Missense_Mutation_p.G210S|UACA_ENST00000379983.2_Missense_Mutation_p.G210S|UACA_ENST00000539319.1_Intron	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	223						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATATCAGCACCATTTTTAATT	0.403000													20	112					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32361989	32361989	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:32361989C>A	ENST00000315285.3	+	11	1490	c.1365C>A	c.(1363-1365)caC>caA	p.H455Q	SPAST_ENST00000345662.1_Missense_Mutation_p.H423Q	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	455	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGGGGAGCACGATGCTAGTA	0.338000													15	22					2.31682e-05	2.69619e-05	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11486862	11486862	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:11486862A>G	ENST00000423059.3	-	12	3046	c.2795T>C	c.(2794-2796)cTt>cCt	p.L932P	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	932	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTACCAACAAGAGTGCGCTT	0.443000										HNSCC(18;0.044)			3	29					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17109492	17109492	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:17109492G>A	ENST00000418129.2	+	5	3226	c.2761G>A	c.(2761-2763)Ggt>Agt	p.G921S	PLCL2_ENST00000396755.2_Missense_Mutation_p.G921S|PLCL2_ENST00000432376.1_Missense_Mutation_p.G921S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1047					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CACCAAGGAAGGTTTGAAGGA	0.368000													19	53					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43683102	43683102	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:43683102C>A	ENST00000599812.1	-	3	733	c.638G>T	c.(637-639)gGa>gTa	p.G213V	PSG5_ENST00000404580.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000342951.6_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	118	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTCATAGGGTCCTGCAATATA	0.498000													73	113					9.25274e-37	1.68411e-36	1	1	0
OR51A2	401667	broad.mit.edu	37	11	4976025	4976025	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:4976025T>C	ENST00000380371.1	-	1	918	c.919A>G	c.(919-921)Aaa>Gaa	p.K307E	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACACAATTTTGCTACAACT	0.333000													21	34					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82267570	82267570	+	Missense_Mutation	SNP	C	C	A	rs34892867		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:82267570C>A	ENST00000376520.4	+	7	1281	c.453C>A	c.(451-453)caC>caA	p.H151Q	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.H151Q|TLE4_ENST00000376544.3_Missense_Mutation_p.H151Q|TLE4_ENST00000376552.2_Missense_Mutation_p.H151Q|TLE4_ENST00000265284.6_Missense_Mutation_p.H126Q|TLE4_ENST00000455913.1_3'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	31										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGACTCCACACCCTTCAGGGC	0.537000													28	124					2.12542e-12	3.10998e-12	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173997160	173997160	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:173997160C>A	ENST00000457714.1	+	6	1798	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	NLGN1_ENST00000545397.1_Missense_Mutation_p.L457M|NLGN1_ENST00000401917.3_Missense_Mutation_p.L497M|NLGN1_ENST00000361589.4_Missense_Mutation_p.L457M	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	474					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAAGACATTACTGGCTTTGTT	0.448000													24	70					1.64293e-13	2.47061e-13	1	1	0
HPS4	89781	broad.mit.edu	37	22	26854458	26854458	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr22:26854458C>T	ENST00000398145.2	-	12	2415	c.1799G>A	c.(1798-1800)aGc>aAc	p.S600N	HPS4_ENST00000336873.5_Missense_Mutation_p.S600N|HPS4_ENST00000402105.3_Missense_Mutation_p.S595N|HPS4_ENST00000398141.1_Missense_Mutation_p.S613N|HPS4_ENST00000493455.2_5'UTR	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	600					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GTTGTAGGTGCTGCTCGTGGA	0.582000									Hermansky-Pudlak syndrome				14	42					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8603120	8603120	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:8603120C>G	ENST00000360986.4	+	3	566	c.392C>G	c.(391-393)cCc>cGc	p.P131R	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.P120R	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	131	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTCTGCCAGCCCGCCTTCGAC	0.677000													6	21					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623620	21623620	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:21623620G>C	ENST00000304418.3	-	1	602	c.565C>G	c.(565-567)Cct>Gct	p.P189A		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAGACCTCAGGAGACATGATG	0.517000													4	47					0	0	1	0	0
GHRH	2691	broad.mit.edu	37	20	35882716	35882716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:35882716G>A	ENST00000373614.2	-	4	316	c.205C>T	c.(205-207)Cga>Tga	p.R69*	GHRH_ENST00000373611.2_Nonsense_Mutation_p.R69*|GHRH_ENST00000237527.3_Nonsense_Mutation_p.R69*			P01286	SLIB_HUMAN	growth hormone releasing hormone	69					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				CTTGCTCCTCGCTCTTGGTTG	0.493000													88	155					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38886172	38886172	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:38886172A>G	ENST00000274276.3	+	7	1273	c.871A>G	c.(871-873)Aaa>Gaa	p.K291E	OSMR_ENST00000502536.1_Missense_Mutation_p.K291E	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	291					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGTACACACAAAAACTGGTG	0.323000													20	56					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72023484	72023484	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:72023484G>T	ENST00000355327.3	+	10	1692	c.1558G>T	c.(1558-1560)Ggc>Tgc	p.G520C	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.G160C|THSD4_ENST00000261862.6_Missense_Mutation_p.G520C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	520						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCAAACCCAGGCGTGCACTA	0.557000											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	42					2.32078e-09	3.09957e-09	1	1	0
AARS2	57505	broad.mit.edu	37	6	44268383	44268383	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:44268383C>G	ENST00000244571.4	-	22	2861	c.2859G>C	c.(2857-2859)aaG>aaC	p.K953N	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	953					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	AGCCCCACGCCTTGCCCCCCA	0.612000													13	128					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572578	140572578	+	Silent	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr5:140572578A>T	ENST00000239446.4	+	1	637	c.453A>T	c.(451-453)gcA>gcT	p.A151A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		151	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGGACAGCATTTAGACTAG	0.423000													53	139					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114910	53114910	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:53114910A>T	ENST00000375442.4	+	6	1468	c.1336A>T	c.(1336-1338)Aca>Tca	p.T446S		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	446					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CATTGATGAGACAATTCATGA	0.458000													15	96					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231334811	231334811	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:231334811C>T	ENST00000264052.5	+	15	1782	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	SP100_ENST00000340126.4_Missense_Mutation_p.S476L|SP100_ENST00000409824.1_Missense_Mutation_p.S451L|SP100_ENST00000409341.1_Missense_Mutation_p.S476L|SP100_ENST00000409897.1_Missense_Mutation_p.S441L|SP100_ENST00000409112.1_Missense_Mutation_p.S476L|SP100_ENST00000427101.2_Missense_Mutation_p.S448L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	476					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)		AGAAGAGGGTCAGGTAAAGAA	0.423000													7	14					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81440758	81440758	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:81440758T>G	ENST00000286732.4	+	7	873	c.790T>G	c.(790-792)Tgg>Ggg	p.W264G		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	264										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						AAGGAACCACTGGATGTTGGT	0.522000													29	81					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89073873	89073873	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:89073873C>T	ENST00000564406.1	-	3	1257	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	DET1_ENST00000268148.8_Missense_Mutation_p.R355Q|DET1_ENST00000444300.1_Missense_Mutation_p.R366Q	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	355						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATCTGTGACTCGCAGTGTTAC	0.443000													6	49					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21208419	21208419	+	Silent	SNP	C	C	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:21208419C>G	ENST00000342679.4	+	9	1002	c.753C>G	c.(751-753)gtC>gtG	p.V251V	MAP2K3_ENST00000361818.5_Silent_p.V222V|MAP2K3_ENST00000316920.6_Silent_p.V222V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	251	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGTCCGACGTCTGGAGCCTGG	0.637000													10	149					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452975	106452975	+	RNA	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:106452975C>T	ENST00000390594.2	-	0	110																											GGAGTGGGCTCCTGTGGAGAG	0.572000													53	70					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59515859	59515859	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr8:59515859G>T	ENST00000038176.3	-	13	1167	c.955C>A	c.(955-957)Ctc>Atc	p.L319I	NSMAF_ENST00000427130.2_Missense_Mutation_p.L350I|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	319	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AGGTTGTTGAGGTGAAGGAGG	0.537000													43	140					5.44703e-19	9.16021e-19	1	1	0
SERPINI2	5276	broad.mit.edu	37	3	167167118	167167118	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:167167118G>T	ENST00000476257.1	-	8	1335	c.1037C>A	c.(1036-1038)gCt>gAt	p.A346D	SERPINI2_ENST00000264677.4_Missense_Mutation_p.A346D|SERPINI2_ENST00000471111.1_Missense_Mutation_p.A346D|SERPINI2_ENST00000461846.1_Missense_Mutation_p.A346D			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	346					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGATGTTGCAGCTTCACTACC	0.383000													11	41					1.58986e-06	1.92135e-06	1	1	0
AC010731.4	0	broad.mit.edu	37	2	207509321	207509321	+	RNA	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:207509321G>T	ENST00000543490.1	+	0	536																											ATTGGTTGGAGAGGAAGAGAA	0.498000													4	22					2.56e-06	3.05054e-06	1	1	0
MUC16	94025	broad.mit.edu	37	19	9075908	9075908	+	Silent	SNP	T	T	C			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:9075908T>C	ENST00000397910.4	-	3	11741	c.11538A>G	c.(11536-11538)ccA>ccG	p.P3846P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3847	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						AAGTTGCATCTGGAGTTTTTG	0.502000													38	50					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141803203	141803203	+	Silent	SNP	C	C	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:141803203C>T	ENST00000475668.2	+	70	8202	c.8148C>T	c.(8146-8148)gtC>gtT	p.V2716V	MGAM_ENST00000549489.2_Silent_p.V1820V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1820					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)	GTGGCATGGTCATAACACCCT	0.493000													7	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582923	179582923	+	Silent	SNP	C	C	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:179582923C>A	ENST00000589042.1	-	86	25034	c.24810G>T	c.(24808-24810)ctG>ctT	p.L8270L	TTN_ENST00000591111.1_Silent_p.L7953L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L7026L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7953	Ig-like 65.						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)			CCACATGTTCCAGAGGTTCAA	0.398000													22	31					3.62473e-10	4.96322e-10	1	1	0
CD44	960	broad.mit.edu	37	11	35236458	35236458	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:35236458G>T	ENST00000263398.6	+	6	1161	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	CD44_ENST00000428726.2_Missense_Mutation_p.D624Y|CD44_ENST00000360158.4_Missense_Mutation_p.D278Y|CD44_ENST00000434472.2_Missense_Mutation_p.D311Y|CD44_ENST00000433354.2_Missense_Mutation_p.D596Y|CD44_ENST00000526669.2_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.D375Y|CD44_ENST00000449691.2_Missense_Mutation_p.D581Y|CD44_ENST00000437706.2_Missense_Mutation_p.D556Y|CD44_ENST00000415148.2_Missense_Mutation_p.D581Y|CD44_ENST00000278386.6_Intron|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000352818.4_Intron	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	624	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ATCTGAATCAGATGGTGAGTT	0.438000													13	16					4.3838e-07	5.41849e-07	1	1	0
PTCD1	26024	broad.mit.edu	37	7	99032727	99032727	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:99032727T>A	ENST00000292478.4	-	2	389	c.139A>T	c.(139-141)Agc>Tgc	p.S47C	PTCD1_ENST00000555673.1_Missense_Mutation_p.S96C|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.S96C	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGAGCTGCTGAAGGGCGCC	0.672000													16	35					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52660466	52660466	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr13:52660466G>T	ENST00000355568.4	-	16	1565	c.1426C>A	c.(1426-1428)Cag>Aag	p.Q476K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	476							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTGTGGTACTGTTGGCGTATT	0.358000													14	45					1.3612e-06	1.6517e-06	1	1	0
LINC01250	101927554	broad.mit.edu	37	2	2910724	2910724	+	RNA	DEL	C	C	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:2910724delC	ENST00000457478.1	-	0	594																											caccccctctccccagcccac	0.706													2	4	---	---	---	---					
SNRNP200	23020	broad.mit.edu	37	2	96947605	96947605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr2:96947605delA	ENST00000323853.5	-	35	5048	c.4971delT	c.(4969-4971)gcfs	p.A1658fs	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1658	Helicase C-terminal 2.					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						CCAGGTGGGCAGCCACGTTCA	0.567													10	90	---	---	---	---					
CEP70	80321	broad.mit.edu	37	3	138219359	138219360	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:138219359_138219360delGA	ENST00000264982.3	-	15	1684_1685	c.1418_1419delTC	c.(1417-1419)tfs	p.F473fs	CEP70_ENST00000484888.1_Frame_Shift_Del_p.F473fs|CEP70_ENST00000481834.1_Frame_Shift_Del_p.F473fs|CEP70_ENST00000542237.1_Frame_Shift_Del_p.F453fs|CEP70_ENST00000489254.1_Frame_Shift_Del_p.F321fs	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	473					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.F473F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						ATAACTTTTGGAAGTGAGAAAC	0.356													172	369	---	---	---	---					
FXR1	8087	broad.mit.edu	37	3	180675715	180675718	+	Splice_Site	DEL	ACGT	ACGT	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr3:180675715_180675718delACGT	ENST00000357559.4	+	10	1373_1374	c.990_splice	c.e10+1	p.330_splice	FXR1_ENST00000445140.2_Splice_Site_p.330_splice|FXR1_ENST00000491062.1_Splice_Site_p.281_splice|FXR1_ENST00000305586.7_Splice_Site_p.245_splice|FXR1_ENST00000480918.1_Splice_Site_p.317_splice|FXR1_ENST00000468861.1_Splice_Site_p.245_splice	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	330					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CCCAGAGAAGACGTAAGTATTTAA	0.324													13	52	---	---	---	---					
UGT2A1	10941	broad.mit.edu	37	4	70513163	70513163	+	Frame_Shift_Del	DEL	G	G	-	rs145089093	byFrequency	TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:70513163delG	ENST00000503640.1	-	1	255	c.200delC	c.(199-201)cafs	p.P67fs	UGT2A1_ENST00000514019.1_Frame_Shift_Del_p.P67fs|UGT2A1_ENST00000512704.1_Frame_Shift_Del_p.P67fs|UGT2A1_ENST00000286604.4_Frame_Shift_Del_p.P67fs	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	67					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGTCAGAGATGGGTTAGAGGT	0.378													19	57	---	---	---	---					
ARHGAP10	79658	broad.mit.edu	37	4	148944525	148944525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr4:148944525delC	ENST00000336498.3	+	19	2067	c.1828delC	c.(1828-1830)ccfs	p.P610fs	ARHGAP10_ENST00000414545.2_Frame_Shift_Del_p.P259fs	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	610					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AACCAAGAGGCCCGTGGCCGT	0.507													8	63	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													12	312	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													9	250	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659	by1000genomes	TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr7:131241029_131241030insGGCGAC	ENST00000541194.1	-	1	346_347	c.89_90insGTCGCC	c.(88-90)ctc>cGTCGCCtc	p.29_30insRR	PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	29					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													7	11	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15468704	15468707	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:15468704_15468707delTCTT	ENST00000380733.4	-	14	1684_1687	c.1341_1344delAAGA	c.(1339-1344)cafs	p.QR447fs	PSIP1_ENST00000380738.4_Frame_Shift_Del_p.QR447fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	447					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTCATGCTGTCTTTGTTCAGCAA	0.382													25	113	---	---	---	---					
MIRLET7DHG	158257	broad.mit.edu	37	9	96941100	96941100	+	RNA	DEL	A	A	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:96941100delA	ENST00000416309.2	-	0	164				RP11-2B6.3_ENST00000602703.1_lincRNA	NR_046163.1																						GACCAGCAAGAAAAAAAAAAT	0.378													4	7	---	---	---	---					
ERCC6L2	375748	broad.mit.edu	37	9	98766944	98766944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr9:98766944delC	ENST00000407474.3	+	3	1091	c.578delC	c.(577-579)acfs	p.T194fs				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ACAAACCAGACCACCTTCATA	0.378													2	4	---	---	---	---					
PKNOX2	63876	broad.mit.edu	37	11	125280765	125280766	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr11:125280765_125280766delAC	ENST00000298282.9	+	9	1080_1081	c.809_810delAC	c.(808-810)afs	p.N270fs	PKNOX2_ENST00000542175.1_Frame_Shift_Del_p.N206fs|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	270						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGATCCAGAACACACAGGTGA	0.554													7	32	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307													4	3	---	---	---	---					
CLEC14A	161198	broad.mit.edu	37	14	38724284	38724284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr14:38724284delG	ENST00000342213.2	-	1	1290	c.944delC	c.(943-945)cgfs	p.P315fs		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	315						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCTCTGCGGCACGGGGCT	0.617													28	172	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													6	5	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													4	5	---	---	---	---					
LOC101929950	101929950	broad.mit.edu	37	17	36358982	36358982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr17:36358982delG	ENST00000312412.4	-	6	708	c.709delC	c.(709-711)gcfs	p.R237fs	RP11-1407O15.2_ENST00000544906.1_Frame_Shift_Del_p.R82fs														p.R237S(2)		kidney(1)|lung(3)	4						ACAGGTGTGCGGGCAAACTTC	0.358													19	462	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9069328	9069329	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:9069328_9069329delGT	ENST00000397910.4	-	3	18320_18321	c.18117_18118delAC	c.(18115-18120)acctfs	p.TP6039fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6041	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						ACCTTTGGAGGTGTGTGTCCGG	0.455													49	110	---	---	---	---					
WDR83	84292	broad.mit.edu	37	19	12783729	12783734	+	Splice_Site	DEL	GTGAGT	GTGAGT	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:12783729_12783734delGTGAGT	ENST00000418543.3	+	8	923		c.e8+1		WDR83_ENST00000242796.4_Splice_Site	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TACGTGGGCAGTGAGTGTGGCTGGGG	0.636													5	7	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433983	40433983	+	Frame_Shift_Del	DEL	C	C	-	rs146138339		TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr19:40433983delC	ENST00000221347.6	-	2	293	c.286delG	c.(286-288)ctfs	p.A96fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	96	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)			ATCATCTCAGCCTTGGCACTG	0.557													24	70	---	---	---	---					
PAK7	57144	broad.mit.edu	37	20	9561229	9561229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chr20:9561229delC	ENST00000378429.3	-	5	1099	c.553delG	c.(553-555)tgfs	p.V185fs	PAK7_ENST00000378423.1_Frame_Shift_Del_p.V185fs|PAK7_ENST00000353224.5_Frame_Shift_Del_p.V185fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	185	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAAGGCTTCACCTCAGAATAG	0.463													73	138	---	---	---	---					
RHOXF2B	727940	broad.mit.edu	37	X	119211088	119211088	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4TF-01A-11D-A25L-08	TCGA-MP-A4TF-10A-01D-A25L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68FB204A-B848-4B8F-8DC7-4428D786D576	4AF2129D-0E85-497E-AF89-40359C958BCF	g.chrX:119211088delC	ENST00000371402.2	-	2	434	c.245delG	c.(244-246)gcfs	p.G82fs	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	82						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						AACTCCGGCGCCGCCGCCATC	0.602													11	82	---	---	---	---