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
WHSC2	7469	broad.mit.edu	37	4	1985181	1985181	+	Silent	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr4:1985181C>T	uc003gem.3	-	10	1728	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E	WHSC2_uc003gek.3_Silent_p.E221E|WHSC2_uc003gel.3_Silent_p.E409E|WHSC2_uc003gen.3_Silent_p.E349E	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	484					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			CCTCCGTGTGCTCGCTCAGCT	0.642000													4	150					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598529	68598529	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr16:68598529A>T	uc010cff.3	+	4	2131	c.1839A>T	c.(1837-1839)gaA>gaT	p.E613D	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.E613D|ZFP90_uc002ewe.3_Missense_Mutation_p.E613D	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	613					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTTGTAAGGAATGTGGGAAAA	0.383000													52	69					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70948968	70948968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr12:70948968G>T	uc001swc.4	-	19	5160	c.5115C>A	c.(5113-5115)taC>taA	p.Y1705*	PTPRB_uc001swb.4_Nonsense_Mutation_p.Y1487*|PTPRB_uc010sto.2_Nonsense_Mutation_p.Y1397*|PTPRB_uc010stp.2_Nonsense_Mutation_p.Y1397*|PTPRB_uc001swa.4_Nonsense_Mutation_p.Y1617*	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	1487	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S1704F(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTGAAGTATTTCACAG	0.443000													28	46					0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917928	11917928	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr19:11917928A>G	uc002mso.1	+	2	1445	c.1160A>G	c.(1159-1161)cAt>cGt	p.H387R	ZNF491_uc021upj.1_Missense_Mutation_p.H387R	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAATGTAAGCATTGTGGGAAA	0.393000													27	36					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34087927	34087927	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:34087927C>T	uc021wco.1	+	27	4474	c.3827C>T	c.(3826-3828)aCt>aTt	p.T1276I	CEP250_uc010zve.2_Missense_Mutation_p.T644I	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1276	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTAACTGATACTGAGGCTGAG	0.512000													45	65					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr11:533874T>C	uc001lpv.3	-	2	370	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			38	58					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184071569	184071569	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:184071569C>T	uc003foi.3	-	15	1860	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	CLCN2_uc003foh.3_Missense_Mutation_p.R103H|CLCN2_uc010hya.2_Missense_Mutation_p.R562H|CLCN2_uc011brl.2_Missense_Mutation_p.R579H|CLCN2_uc011brm.2_Missense_Mutation_p.R535H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	579						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTCCTCCACACGCACCCGGTA	0.642000													3	11					0	0	1	0	0
BEST4	266675	broad.mit.edu	37	1	45250578	45250578	+	Splice_Site	SNP	T	T	C			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:45250578T>C	uc001cmm.3	-	7	1042	c.993_splice	c.e7+1	p.Q331_splice		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	331			Q -> E (in dbSNP:rs16832241).			chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CTTGCTCACCTGCAAGTTGCG	0.577000													3	73					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919499	51919499	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr19:51919499T>C	uc010eow.3	-	2	657	c.113A>G	c.(112-114)gAg>gGg	p.E38G	SIGLEC10_uc002pwp.3_Intron|SIGLEC10_uc002pwo.3_Intron|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|LOC100129083_uc021uym.1_Intron			Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 3, mRNA.	33	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		gCACATCCCCTCATCCCCTGA	0.557000													3	76					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:31024411G>A	uc021wbw.1	+	12	4328	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_uc002wxs.3_Missense_Mutation_p.G1298D|ASXL1_uc010geb.3_Missense_Mutation_p.G1190D	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1299					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557000			"""F, N, Mis"""		"""MDS, CMML"""								27	48					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484690	36484690	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr17:36484690C>T	uc002hpz.3	-	10	4783	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1588						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1587P(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTTTTGGCAGGTGTTGCT	0.502000													5	159					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145581093	145581093	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr4:145581093C>G	uc003ijr.2	+	3	1614	c.934C>G	c.(934-936)Ctt>Gtt	p.L312V	HHIP_uc003ijs.2_Intron	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	0						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAGAAAGAATCTTGCAGGAGA	0.313000													2	5					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222322	115222322	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:115222322A>G	uc001efe.2	-	6	922	c.874T>C	c.(874-876)Tat>Cat	p.Y292H	AMPD1_uc001eff.2_Missense_Mutation_p.Y288H	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	259					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CGGTGGGTATAGGTCTTACTG	0.413000													3	114					0	0	1	0	0
BCAP31	10134	broad.mit.edu	37	X	152986357	152986357	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chrX:152986357G>A	uc004fid.2	-	2	794	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	BCAP31_uc011myz.1_Missense_Mutation_p.L55F|BCAP31_uc011mza.1_Missense_Mutation_p.L55F|BCAP31_uc004fie.2_Missense_Mutation_p.L55F	NM_001139457	NP_005736	P51572	BAP31_HUMAN	Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA.	55					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGACAATGAGAACCACAAAG	0.502000													7	70					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97467477	97467477	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:97467477A>G	uc010how.1	+	17	3368	c.3325A>G	c.(3325-3327)Ata>Gta	p.I1109V		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	1014						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGAGACGAATAGTCAGCAG	0.428000													3	31					0	0	1	0	0
SOX2	6657	broad.mit.edu	37	3	181430265	181430265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:181430265delC	uc003fkx.3	+	0	554	c.117delC	c.(115-117)gacfs	p.D39fs	SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.	39					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACAGCCCGGACCGCGTCAAGC	0.687			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						19	12	---	---	---	---