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
CABIN1	23523	broad.mit.edu	37	22	24445595	24445595	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr22:24445595G>A	uc002zzi.1	+	6	696	c.569G>A	c.(568-570)cGg>cAg	p.R190Q	CABIN1_uc021wnc.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R190Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R190Q|CABIN1_uc010guk.1_Missense_Mutation_p.R145Q|CABIN1_uc002zzk.2_Missense_Mutation_p.R145Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	190					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.R190L(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGGATTGCCGGTACAGCAAA	0.502000													4	168					0	0	1	0	0
C3orf71	646450	broad.mit.edu	37	3	48955844	48955844	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr3:48955844C>A	uc010hkk.1	-	0	975	c.739G>T	c.(739-741)Gtt>Ttt	p.V247F	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	247						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						GCGCGGCGAACGAGGCCTCGG	0.592000													5	119					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792452	23792452	+	Splice_Site	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr7:23792452G>A	uc003sws.4	+	9	1200	c.1133_splice	c.e9+1	p.R378_splice	STK31_uc003swt.4_Splice_Site_p.R355_splice|STK31_uc011jze.2_Splice_Site_p.R378_splice|STK31_uc010kuq.3_Splice_Site_p.R355_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	378							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGAAATGAGGTAGGTAAAAG	0.303000													3	46					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12962967	12962967	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:12962967G>A	uc002mvm.3	+	8	1043	c.915G>A	c.(913-915)gcG>gcA	p.A305A	MAST1_uc021upp.1_Silent_p.A129A	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	305					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGCTGGAGGCGGCCGAAGGAC	0.652000													7	170					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007535	93007535	+	Silent	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:93007535T>C	uc002bra.3	+	5	1203	c.1048T>C	c.(1048-1050)Ttg>Ctg	p.L350L	ST8SIA2_uc002brb.3_Silent_p.L329L	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	350					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACCATGCCCTTGGAGTTTAA	0.577000													3	172					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37563979	37563979	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:37563979T>A	uc002hrv.4	-	16	4707	c.4495A>T	c.(4495-4497)Aag>Tag	p.K1499*	MED1_uc010wee.2_Nonsense_Mutation_p.K1327*|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1499	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTTGTGCTTCTTATGTTTC	0.438000										HNSCC(31;0.082)			4	35					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65459053	65459053	+	Silent	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:65459053C>T	uc002aom.3	-	3	501	c.429G>A	c.(427-429)aaG>aaA	p.K143K	CLPX_uc010uiu.2_Non-coding_Transcript|CLPX_uc010bhg.1_Silent_p.K143K	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	143					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTATGCTTTTCTTTGAGTCTG	0.393000													3	110					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000													3	100					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14520418	14520418	+	Silent	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:14520418T>C	uc001mli.2	-	1	364	c.57A>G	c.(55-57)gaA>gaG	p.E19E	COPB1_uc001mlg.2_Silent_p.E19E|COPB1_uc001mlh.2_Silent_p.E19E|PSMA1_uc010rcp.1_Non-coding_Transcript	NM_016451	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 1, mRNA.	19					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGATGGTGGTTCTGAATCCA	0.313000													28	52					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89912157	89912157	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:89912157T>C	uc003hse.1	-	3	780	c.572A>G	c.(571-573)aAt>aGt	p.N191S	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Missense_Mutation_p.N5S	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTGGCGAGATTGTGAACATT	0.423000													5	141					0	0	1	0	0
SNRNP70	6625	broad.mit.edu	37	19	49589800	49589800	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr19:49589800G>A	uc002pmk.3	+	1	568	c.129G>A	c.(127-129)ccG>ccA	p.P43P	SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript	NM_003089	NP_003080	P08621	RU17_HUMAN	Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA.	43					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GCATTGCGCCGTACATTCGAG	0.532000													6	429					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	995059	995059	+	Missense_Mutation	SNP	G	G	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:995059G>T	uc002fsd.3	-	3	487	c.377C>A	c.(376-378)aCc>aAc	p.T126N	ABR_uc002fse.3_Missense_Mutation_p.T80N|ABR_uc002fsg.3_Missense_Mutation_p.T89N|ABR_uc002fsh.1_Missense_Mutation_p.T10N|ABR_uc010cjq.1_Missense_Mutation_p.T138N	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	126	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGGCTGGGAGGTGGTGGCGGT	0.572000													19	203					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153129444	153129444	+	Silent	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:153129444G>A	uc004fjb.3	-	24	3459	c.3351C>T	c.(3349-3351)ttC>ttT	p.F1117F	L1CAM_uc004fjc.3_Silent_p.F1117F|L1CAM_uc010nuo.3_Silent_p.F1112F	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1117				GF -> WLC (in Ref. 11).	axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGTGGCGAAGCCAGCAG	0.632000													3	51					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869749	151869749	+	Missense_Mutation	SNP	T	T	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chrX:151869749T>A	uc004ffq.1	+	2	633	c.439T>A	c.(439-441)Ttt>Att	p.F147I	MAGEA6_uc004ffr.1_Missense_Mutation_p.F147I|MAGEA6_uc022chf.1_Missense_Mutation_p.F147I	NM_005363	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 1, mRNA.	147	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTACTTCTTTCCTGTGAT	0.527000													4	197					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761700	96761700	+	Silent	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:96761700C>T	uc003htr.4	+	0	462	c.399C>T	c.(397-399)ctC>ctT	p.L133L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	133					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GATCCATTCTCGCAGAGCTGA	0.517000													10	91					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355399	34355399	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr15:34355399C>A	uc001zhk.1	+	2	1151	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	CHRM5_uc001zhl.1_Missense_Mutation_p.L161I|CHRM5_uc021sir.1_Missense_Mutation_p.L161I	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	161					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTCCTTCATCCTCTGGGCCCC	0.547000													4	117					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634706	70634706	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr14:70634706G>A	uc001xly.3	-	1	1188	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC8A3_uc001xlw.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlx.3_Missense_Mutation_p.A145V|SLC8A3_uc001xlz.3_Missense_Mutation_p.A145V|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	145					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATCTCAGGAGCAGAGGAACC	0.488000													4	74					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	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				35	55					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101829274	101829274	+	Silent	SNP	A	A	G			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr9:101829274A>G	uc004azb.1	+	39	3968	c.3762A>G	c.(3760-3762)ttA>ttG	p.L1254L		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1254	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAGCATTCTTATCTTCCCATT	0.463000													4	138					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10318635	10318635	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr17:10318635C>T	uc002gmm.2	-	7	810	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	239	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATTCCTCACAGTTTTGGCA	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				60	85					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945025	52945025	+	Missense_Mutation	SNP	A	A	T			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr4:52945025A>T	uc003gzl.3	+	7	1423	c.1145A>T	c.(1144-1146)cAt>cTt	p.H382L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.H350L|SPATA18_uc003gzk.1_Missense_Mutation_p.H382L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	382					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCATTTGTCATCTTGATCTA	0.383000													7	204					0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118183648	118183648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CE-A3ME-01A-11D-A20C-08	TCGA-CE-A3ME-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b	0af887aa-c6b3-48e1-a9c2-9c746dededa6	g.chr11:118183648delA	uc010rya.2	+	5	675	c.419delA	c.(418-420)cagfs	p.Q140fs	CD3E_uc001psq.4_Intron	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	0					G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GGGCATTCTCAGTGATTTTCC	0.522													20	27	---	---	---	---					
