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
TMEM63A	9725	broad.mit.edu	37	1	226050509	226050509	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:226050509G>A	uc001hpm.2	-	10	1411	c.789C>T	c.(787-789)tgC>tgT	p.C263C		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	263						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCACGTTGTAGCACAGCTGCA	0.577000													3	79					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892674	58892674	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58892674G>A	uc001nnl.3	+	3	1347	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_uc001nnm.3_Silent_p.P338P|FAM111B_uc010rko.2_Silent_p.P338P|FAM111B_uc021qjn.1_Silent_p.P338P	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	368							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383000													4	229					0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591629	60591629	+	Missense_Mutation	SNP	G	G	A	rs141333786		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:60591629G>A	uc001xer.4	+	7	2560	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	C14orf135_uc001xeq.2_Missense_Mutation_p.A680T|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	914						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATGCTTACCCGCAGAGTGGAG	0.433000													4	217					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274879	35274879	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr15:35274879G>A	uc001ziw.3	-	2	1111	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	ZNF770_uc021siy.1_Missense_Mutation_p.R253C	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATTCTGTACGCCTCTTCTTT	0.368000													3	59					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr4:146059006G>A	uc003ika.4	-	20	2864	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													4	240					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr20:62324212G>A	uc021wge.1	+	27	2877	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V903M|RTEL1_uc011abd.2_Missense_Mutation_p.V927M|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V680M|RTEL1_uc002yfx.1_Missense_Mutation_p.V148M|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	903					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642000													3	137					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65564560	65564560	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:65564560G>A	uc001ssl.2	+	0	1210	c.1184G>A	c.(1183-1185)gGt>gAt	p.G395D	LEMD3_uc009zqo.2_Missense_Mutation_p.G395D	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	395					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CATATTGGCGGTGGGGCCTTC	0.537000													4	180					0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067926	106067926	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:106067926G>A	uc001yrw.1	-	1	194	c.182C>T	c.(181-183)tCc>tTc	p.S61F	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.S8F|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		CCCGTTGAGGGAGCCTGTGTC	0.612000													3	105					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703746	52703746	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:52703746G>A	uc001cto.3	+	3	829	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ZFYVE9_uc001ctn.3_Silent_p.P219P|ZFYVE9_uc001ctp.3_Silent_p.P219P	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	219					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATAGACCGAAAACAGAGG	0.363000													4	237					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr4:3443797C>G	uc010icw.3	+	0	72	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_uc003ghc.3_Silent_p.L23L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716000													3	46					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135173645	135173645	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr9:135173645G>A	uc004cbk.3	-	12	5786	c.5603C>T	c.(5602-5604)cCg>cTg	p.P1868L	SETX_uc004cbj.3_Missense_Mutation_p.P1487L|SETX_uc010mzt.3_Missense_Mutation_p.P1487L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1868					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAAATTGGCCGGAAAGTTCTC	0.388000													3	106					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117368303	117368303	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:117368303A>G	uc003vjf.3	-	16	3987	c.3895T>C	c.(3895-3897)Tcc>Ccc	p.S1299P		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1299										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCGCAGGGGGAGGGCGCCTGA	0.512000													3	237					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163814	150163814	+	Missense_Mutation	SNP	G	G	A	rs143529569		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:150163814G>A	uc003whj.3	+	1	358	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	10						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.E10K(4)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGATGTCCGAACTGCGGCT	0.507000													3	99					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	rs139430640		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:55725701G>A	uc010spj.2	+	0	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428000													4	149					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754255	110754255	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:110754255C>T	uc009wfr.3	+	0	920	c.134C>T	c.(133-135)aCg>aTg	p.T45M	KCNC4_uc001dzf.3_Missense_Mutation_p.T45M|KCNC4_uc001dzh.3_Missense_Mutation_p.T45M|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.T45M	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	45					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCGGCACGCGACATGAG	0.682000													3	67					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304298	3304298	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:3304298G>A	uc002cun.1	-	1	810	c.770C>T	c.(769-771)cCa>cTa	p.P257L	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	257					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAGAATTTCTGGATTTGCGGG	0.577000													48	178					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516096	140516096	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:140516096G>A	uc003liq.3	+	0	1297	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	360	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P360P(2)		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)			AAAATGCCCCGGAAACTGTAG	0.502000													3	159					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92262932	92262932	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:92262932G>A	uc001doh.3	-	2	673	c.158C>T	c.(157-159)gCc>gTc	p.A53V	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Missense_Mutation_p.A11V|TGFBR3_uc001doi.3_Missense_Mutation_p.A53V|TGFBR3_uc001doj.3_Missense_Mutation_p.A53V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	53					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCTCTGCTGGCACAGCCTGA	0.602000													5	280					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105175025	105175025	+	Silent	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:105175025C>T	uc001ypb.2	+	9	2048	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	INF2_uc001ypc.2_Silent_p.A635A|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	635	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTCGATGCCAAGAAGAGCC	0.622000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	181					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34009806	34009806	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr17:34009806G>A	uc002hjq.3	+	17	2606	c.2417G>A	c.(2416-2418)gGc>gAc	p.G806D	AP2B1_uc002hjr.3_Missense_Mutation_p.G792D|AP2B1_uc010wci.2_Missense_Mutation_p.G768D|AP2B1_uc002hjs.3_Missense_Mutation_p.G735D|AP2B1_uc002hjt.3_Missense_Mutation_p.G806D|AP2B1_uc010ctv.3_Missense_Mutation_p.G806D|AP2B1_uc010wcj.2_Missense_Mutation_p.G543D	NM_001030006	NP_001025177	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 1, mRNA.	792					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATACCTTGGGCCCAGTCATG	0.438000													4	137					0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67473189	67473189	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:67473189G>A	uc010vjo.1	-	5	850	c.750C>T	c.(748-750)tgC>tgT	p.C250C	ATP6V0D1_uc002ete.1_Silent_p.C209C|ATP6V0D1_uc010vjn.1_Silent_p.C132C	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	209					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCAGGATGGGGCACATGGCAT	0.627000													4	94					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58390308	58390308	+	Missense_Mutation	SNP	G	G	A	rs139149169	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58390308G>A	uc001nna.4	+	0	163	c.83G>A	c.(82-84)cGt>cAt	p.R28H	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	28					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	p.R28C(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGATTCGTTCAGACCTG	0.483000													13	49					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108224618	108224618	+	Silent	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr3:108224618T>C	uc003dxa.1	-	2	264	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	69	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.K69K(2)|p.V68L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCACTCCCTTTTACCTCAG	0.348000													3	244					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883499	19883499	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:19883499G>A	uc010vav.2	-	1	978	c.747C>T	c.(745-747)tgC>tgT	p.C249C	GPRC5B_uc021tef.1_Silent_p.C215C|GPRC5B_uc002dgt.3_Silent_p.C223C	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	223										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGAACTTGCCGCACAGAGTGA	0.592000													3	133					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251451	81251451	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:81251451C>T	uc001xux.2	-	13	2170	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	667						centriole|spindle pole		p.D667V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGTGAGGTCAGAAAGGTCC	0.478000													43	160					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6927643	6927643	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:6927643G>A	uc001qqv.2	+	7	1471	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	CD4_uc010sfj.2_Missense_Mutation_p.V132I|CD4_uc009zfc.2_Missense_Mutation_p.V226I|CD4_uc010sfl.2_Missense_Mutation_p.V132I|CD4_uc010sfk.2_Missense_Mutation_p.V132I|CD4_uc010sfm.1_Missense_Mutation_p.V132I	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	405					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.G404G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GCTGGGGGGCGTCGCCGGCCT	0.622000													4	145					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126887496	126887496	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:126887496G>A	uc003kuk.3	+	8	1406	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	PRRC1_uc003kuj.4_3'UTR|PRRC1_uc021ydd.1_5'Flank	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.	409						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AATGTCAGCCGGACTGATTGG	0.527000													3	115					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798362	24798362	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:24798362G>A	uc001wow.3	-	9	1848	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	ADCY4_uc010toh.2_Silent_p.L163L|ADCY4_uc001wox.3_Silent_p.L477L|ADCY4_uc001woy.3_Silent_p.L477L	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	477					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGTCATCAGCAGTGATGGA	0.622000													3	96					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59377967	59377967	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:59377967T>C	uc001noc.1	-	1	938	c.458A>G	c.(457-459)aAt>aGt	p.N153S		NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	153	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCACCCCCATTGGAAATGAT	0.537000													41	119					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	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	0.368000	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				29	134					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226050509	226050509	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr1:226050509G>A	uc001hpm.2	-	10	1411	c.789C>T	c.(787-789)tgC>tgT	p.C263C		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	263						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCACGTTGTAGCACAGCTGCA	0.577000													3	79					0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58892674	58892674	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr11:58892674G>A	uc001nnl.3	+	3	1347	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_uc001nnm.3_Silent_p.P338P|FAM111B_uc010rko.2_Silent_p.P338P|FAM111B_uc021qjn.1_Silent_p.P338P	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	368							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383000													4	229					0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591629	60591629	+	Missense_Mutation	SNP	G	G	A	rs141333786		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:60591629G>A	uc001xer.4	+	7	2560	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T	C14orf135_uc001xeq.2_Missense_Mutation_p.A680T|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	914						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATGCTTACCCGCAGAGTGGAG	0.433000													4	217					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274879	35274879	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr15:35274879G>A	uc001ziw.3	-	2	1111	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	ZNF770_uc021siy.1_Missense_Mutation_p.R253C	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATTCTGTACGCCTCTTCTTT	0.368000													3	59					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr4:146059006G>A	uc003ika.4	-	20	2864	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													4	240					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr20:62324212G>A	uc021wge.1	+	27	2877	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V903M|RTEL1_uc011abd.2_Missense_Mutation_p.V927M|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V680M|RTEL1_uc002yfx.1_Missense_Mutation_p.V148M|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	903					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642000													3	137					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65564560	65564560	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr12:65564560G>A	uc001ssl.2	+	0	1210	c.1184G>A	c.(1183-1185)gGt>gAt	p.G395D	LEMD3_uc009zqo.2_Missense_Mutation_p.G395D	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	395					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CATATTGGCGGTGGGGCCTTC	0.537000													4	180					0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067926	106067926	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:106067926G>A	uc001yrw.1	-	1	194	c.182C>T	c.(181-183)tCc>tTc	p.S61F	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.S8F|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		CCCGTTGAGGGAGCCTGTGTC	0.612000													3	105					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703746	52703746	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr1:52703746G>A	uc001cto.3	+	3	829	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ZFYVE9_uc001ctn.3_Silent_p.P219P|ZFYVE9_uc001ctp.3_Silent_p.P219P	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	219					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATAGACCGAAAACAGAGG	0.363000													4	237					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr4:3443797C>G	uc010icw.3	+	0	72	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_uc003ghc.3_Silent_p.L23L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716000													3	46					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135173645	135173645	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr9:135173645G>A	uc004cbk.3	-	12	5786	c.5603C>T	c.(5602-5604)cCg>cTg	p.P1868L	SETX_uc004cbj.3_Missense_Mutation_p.P1487L|SETX_uc010mzt.3_Missense_Mutation_p.P1487L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1868					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAAATTGGCCGGAAAGTTCTC	0.388000													3	106					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117368303	117368303	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr7:117368303A>G	uc003vjf.3	-	16	3987	c.3895T>C	c.(3895-3897)Tcc>Ccc	p.S1299P		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1299										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCGCAGGGGGAGGGCGCCTGA	0.512000													3	237					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163814	150163814	+	Missense_Mutation	SNP	G	G	A	rs143529569		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr7:150163814G>A	uc003whj.3	+	1	358	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	10						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.E10K(4)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGATGTCCGAACTGCGGCT	0.507000													3	99					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	rs139430640		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr12:55725701G>A	uc010spj.2	+	0	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428000													4	149					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754255	110754255	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr1:110754255C>T	uc009wfr.3	+	0	920	c.134C>T	c.(133-135)aCg>aTg	p.T45M	KCNC4_uc001dzf.3_Missense_Mutation_p.T45M|KCNC4_uc001dzh.3_Missense_Mutation_p.T45M|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.T45M	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	45					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCGGCACGCGACATGAG	0.682000													3	67					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304298	3304298	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr16:3304298G>A	uc002cun.1	-	1	810	c.770C>T	c.(769-771)cCa>cTa	p.P257L	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	257					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAGAATTTCTGGATTTGCGGG	0.577000													48	178					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516096	140516096	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr5:140516096G>A	uc003liq.3	+	0	1297	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	360	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P360P(2)		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)			AAAATGCCCCGGAAACTGTAG	0.502000													3	159					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92262932	92262932	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr1:92262932G>A	uc001doh.3	-	2	673	c.158C>T	c.(157-159)gCc>gTc	p.A53V	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Missense_Mutation_p.A11V|TGFBR3_uc001doi.3_Missense_Mutation_p.A53V|TGFBR3_uc001doj.3_Missense_Mutation_p.A53V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	53					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCTCTGCTGGCACAGCCTGA	0.602000													5	280					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105175025	105175025	+	Silent	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:105175025C>T	uc001ypb.2	+	9	2048	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	INF2_uc001ypc.2_Silent_p.A635A|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	635	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTCGATGCCAAGAAGAGCC	0.622000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	181					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34009806	34009806	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr17:34009806G>A	uc002hjq.3	+	17	2606	c.2417G>A	c.(2416-2418)gGc>gAc	p.G806D	AP2B1_uc002hjr.3_Missense_Mutation_p.G792D|AP2B1_uc010wci.2_Missense_Mutation_p.G768D|AP2B1_uc002hjs.3_Missense_Mutation_p.G735D|AP2B1_uc002hjt.3_Missense_Mutation_p.G806D|AP2B1_uc010ctv.3_Missense_Mutation_p.G806D|AP2B1_uc010wcj.2_Missense_Mutation_p.G543D	NM_001030006	NP_001025177	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 1, mRNA.	792					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATACCTTGGGCCCAGTCATG	0.438000													4	137					0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67473189	67473189	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr16:67473189G>A	uc010vjo.1	-	5	850	c.750C>T	c.(748-750)tgC>tgT	p.C250C	ATP6V0D1_uc002ete.1_Silent_p.C209C|ATP6V0D1_uc010vjn.1_Silent_p.C132C	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	209					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCAGGATGGGGCACATGGCAT	0.627000													4	94					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58390308	58390308	+	Missense_Mutation	SNP	G	G	A	rs139149169	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr11:58390308G>A	uc001nna.4	+	0	163	c.83G>A	c.(82-84)cGt>cAt	p.R28H	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	28					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	p.R28C(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGATTCGTTCAGACCTG	0.483000													13	49					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108224618	108224618	+	Silent	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr3:108224618T>C	uc003dxa.1	-	2	264	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	69	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.K69K(2)|p.V68L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCACTCCCTTTTACCTCAG	0.348000													3	244					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883499	19883499	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr16:19883499G>A	uc010vav.2	-	1	978	c.747C>T	c.(745-747)tgC>tgT	p.C249C	GPRC5B_uc021tef.1_Silent_p.C215C|GPRC5B_uc002dgt.3_Silent_p.C223C	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	223										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGAACTTGCCGCACAGAGTGA	0.592000													3	133					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251451	81251451	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:81251451C>T	uc001xux.2	-	13	2170	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	667						centriole|spindle pole		p.D667V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGTGAGGTCAGAAAGGTCC	0.478000													43	160					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6927643	6927643	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr12:6927643G>A	uc001qqv.2	+	7	1471	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	CD4_uc010sfj.2_Missense_Mutation_p.V132I|CD4_uc009zfc.2_Missense_Mutation_p.V226I|CD4_uc010sfl.2_Missense_Mutation_p.V132I|CD4_uc010sfk.2_Missense_Mutation_p.V132I|CD4_uc010sfm.1_Missense_Mutation_p.V132I	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	405					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.G404G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GCTGGGGGGCGTCGCCGGCCT	0.622000													4	145					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798362	24798362	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:24798362G>A	uc001wow.3	-	9	1848	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	ADCY4_uc010toh.2_Silent_p.L163L|ADCY4_uc001wox.3_Silent_p.L477L|ADCY4_uc001woy.3_Silent_p.L477L	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	477					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGTCATCAGCAGTGATGGA	0.622000													3	96					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59377967	59377967	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr11:59377967T>C	uc001noc.1	-	1	938	c.458A>G	c.(457-459)aAt>aGt	p.N153S		NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	153	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCACCCCCATTGGAAATGAT	0.537000													41	119					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	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	0.368000	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				29	134					0	0	1	0	0