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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
DFNB31	25861	broad.mit.edu	37	9	117166263	117166263	+	Silent	SNP	G	T	T			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr9:117166263G>T	uc004biy.4	-	9	1822	c.1182C>A	c.(1180-1182)ggC>ggA	p.G394G	DFNB31_uc004bix.3_Silent_p.G426G|DFNB31_uc004biz.4_Silent_p.G777G|DFNB31_uc004bja.4_Silent_p.G776G	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	777					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTTCCTCGGCCTGGGGCGC	0.652													2.98E-29	1	2.58E-29	0	1	84	41
ZNF407	55628	broad.mit.edu	37	18	72346448	72346448	+	Missense_Mutation	SNP	T	C	C			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr18:72346448T>C	uc002llw.2	+	0	3526	c.3473T>C	c.(3472-3474)tTc>tCc	p.F1158S	ZNF407_uc010xfc.2_Missense_Mutation_p.F1158S|ZNF407_uc010dqu.2_Missense_Mutation_p.F1158S|ZNF407_uc002llu.2_Missense_Mutation_p.F1157S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N1157H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATCTAATTTCAATGAAGAC	0.383													0	1	0	0	0	82	21
TDRD6	221400	broad.mit.edu	37	6	46656684	46656684	+	Silent	SNP	G	A	A			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr6:46656684G>A	uc003oyj.3	+	0	1073	c.819G>A	c.(817-819)tcG>tcA	p.S273S	TDRD6_uc010jze.3_Silent_p.S273S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	273					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCAGCGTCTCGCAGGAGATCC	0.627													0	1	0	0	0	23	3
SH3BGR	6450	broad.mit.edu	37	21	40834416	40834416	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr21:40834416C>T	uc002yya.3	+	1	404	c.350C>T	c.(349-351)cCt>cTt	p.P117L	SH3BGR_uc002yxz.3_Missense_Mutation_p.P6L	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	117					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GAGAATGTTCCTGGAGAGAAA	0.418													0	1	0	0	0	61	4
CES1	1066	broad.mit.edu	37	16	55855375	55855375	+	Missense_Mutation	SNP	G	T	T			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr16:55855375G>T	uc002eim.3	-	4	703	c.595C>A	c.(595-597)Cgc>Agc	p.R199S	CES1_uc002eil.3_Missense_Mutation_p.R200S|CES1_uc002ein.3_Missense_Mutation_p.R199S	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	199			R -> H (in dbSNP:rs2307243).		response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TGGACCCAGCGCAGGGCAGCC	0.587													1.85E-01	1	1.85E-01	0	1	35	3
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				0	1	0	0	0	57	35
KIAA1109	84162	broad.mit.edu	37	4	123193357	123193357	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr4:123193357A>G	uc003ieh.3	+	45	8288	c.8243A>G	c.(8242-8244)gAg>gGg	p.E2748G	KIAA1109_uc003iel.1_Missense_Mutation_p.E683G|KIAA1109_uc003iek.2_Missense_Mutation_p.E1367G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2748					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGTGTTTGAGAATGAACAA	0.383													0	1	0	0	0	48	14
HK3	3101	broad.mit.edu	37	5	176314337	176314337	+	Splice_Site	SNP	C	T	T			TCGA-EL-A3CP-01A-11D-A19J-08	TCGA-EL-A3CP-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	064b25ee-8746-499f-96f9-9bbde3961bb8	5aeaaf99-9861-46f1-b614-7cf0ed7f11dd	g.chr5:176314337C>T	uc003mfa.3	-	12	1693	c.1601_splice	c.e12-1	p.E534_splice	HK3_uc003mez.3_Splice_Site_p.E90_splice	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	534	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)			AATCCCCTCGCTCTGTGGGGG	0.637													0	1	0	0	0	39	13
