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
HMCN1	83872	broad.mit.edu	37	1	186056762	186056762	+	Silent	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:186056762C>T	uc001grq.1	+	59	9577	c.9348C>T	c.(9346-9348)caC>caT	p.H3116H	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3116	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATGCTACACATTAAGAAAG	0.438000													50	46					0	0	1	0	0
HMOX2	3163	broad.mit.edu	37	16	4559437	4559437	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:4559437G>A	uc002cwr.4	+	5	1028	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	HMOX2_uc010bts.3_Missense_Mutation_p.G241S|HMOX2_uc002cwq.4_Missense_Mutation_p.G241S|HMOX2_uc010btt.3_Missense_Mutation_p.G241S|HMOX2_uc002cwt.3_Missense_Mutation_p.G241S	NM_001127204	NP_002125	P30519	HMOX2_HUMAN	Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA.	241					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GGACCAGGCCGGCTCCACACT	0.478000													15	233					0	0	1	0	0
LSMD1	84316	broad.mit.edu	37	17	7760438	7760438	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:7760438G>A	uc002gja.3	-	0	735	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	LSMD1_uc002giz.3_Missense_Mutation_p.R54C|CYB5D1_uc002gjb.4_5'Flank|CYB5D1_uc021tpi.1_5'Flank	NM_032356	NP_115732	Q9BRA0	LSMD1_HUMAN	Homo sapiens LSM domain containing 1 (LSMD1), mRNA.	54						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				ATGCGAATGCGCATAGTCTTG	0.632000											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	204					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86250622	86250622	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:86250622C>T	uc022axc.1	-	1	173	c.94G>A	c.(94-96)Gtt>Att	p.V32I	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.V32I|CA1_uc022axd.1_Missense_Mutation_p.V32I|CA1_uc010mae.2_Missense_Mutation_p.V32I|CA1_uc003ydi.3_Missense_Mutation_p.V32I	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	32					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TTAATATCAACAGGGGACTGG	0.423000													10	394					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21364040	21364040	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr18:21364040C>T	uc002kuq.3	+	11	1608	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	LAMA3_uc010dlv.2_Missense_Mutation_p.R508W|LAMA3_uc002kur.3_Missense_Mutation_p.R508W	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	508	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R508L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCCACGGACGGTGCCTGTG	0.532000													22	182					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20073664	20073664	+	Missense_Mutation	SNP	G	G	A	rs146596460		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:20073664G>A	uc001bcn.3	-	7	847	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TMCO4_uc001bco.1_Missense_Mutation_p.T202M|TMCO4_uc001bcp.1_Missense_Mutation_p.T202M|TMCO4_uc009vpn.1_Missense_Mutation_p.T202M|TMCO4_uc001bcq.1_Missense_Mutation_p.T202M	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	202						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACCGATCACCGTTCCGCCTCC	0.547000													229	317					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137468	40137468	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137468G>A	uc021qgf.1	-	0	375	c.375C>T	c.(373-375)aaC>aaT	p.N125N	LRRC4C_uc001mxc.1_Silent_p.N121N|LRRC4C_uc001mxd.1_Silent_p.N121N|LRRC4C_uc001mxa.1_Silent_p.N125N|LRRC4C_uc001mxb.1_Silent_p.N121N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	125					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTGTTGAGGTTCGCCAGAC	0.438000													9	43					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637064	129637064	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:129637064A>G	uc021zfb.1	+	25	3998	c.3893A>G	c.(3892-3894)cAa>cGa	p.Q1298R	LAMA2_uc003qbn.3_Missense_Mutation_p.Q1298R|LAMA2_uc003qbo.3_Missense_Mutation_p.Q1298R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1298	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGATTGGCCAATTGACAAGG	0.398000													44	65					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151208547	151208547	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:151208547C>G	uc003lut.3	-	7	1281	c.994G>C	c.(994-996)Gtt>Ctt	p.V332L	GLRA1_uc003lur.3_Missense_Mutation_p.V332L|GLRA1_uc003lus.3_Missense_Mutation_p.V249L	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	332					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.A331V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAAGTTAACGGCAGCATAT	0.512000													52	84					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90482961	90482961	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:90482961G>C	uc001dnq.2	+	7	1151	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	ZNF326_uc009wda.1_Missense_Mutation_p.E249Q|ZNF326_uc001dnr.2_Missense_Mutation_p.E132Q	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TTCACATCAGGAAACATTAGA	0.294000													11	15					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44942769	44942769	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:44942769A>T	uc011mkz.2	+	23	3880	c.3505A>T	c.(3505-3507)Aat>Tat	p.N1169Y	KDM6A_uc004dge.4_Missense_Mutation_p.N1117Y|KDM6A_uc011mla.2_Missense_Mutation_p.N1072Y|KDM6A_uc011mlb.2_Missense_Mutation_p.N1124Y|KDM6A_uc011mlc.2_Missense_Mutation_p.N821Y|KDM6A_uc022bvj.1_Missense_Mutation_p.N1038Y|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.N756Y	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1117	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATCAGCAGGAAATCTTCTAAG	0.413000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								27	3					0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104753458	104753458	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:104753458C>T	uc003vcm.3	+	26	5789	c.5255C>T	c.(5254-5256)tCg>tTg	p.S1752L	MLL5_uc010ljc.3_Missense_Mutation_p.S1752L|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Missense_Mutation_p.S486L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1752	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CTTTTTCCTTCGAGTGCTCAT	0.552000													4	162					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097045	44097045	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:44097045G>A	uc002oww.2	-	1	1123	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	IRGQ_uc010eiv.2_Silent_p.G335G	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	335							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCGGATCCTCGCCCTCGCCGT	0.617000													12	153					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892945	16892945	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:16892945T>C	uc009vos.1	-	25	3737	c.2849A>G	c.(2848-2850)aAg>aGg	p.K950R	NBPF1_uc009vot.1_Missense_Mutation_p.K408R|NBPF1_uc001ayz.1_Missense_Mutation_p.K408R|AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	950	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCTTGGTACTTTTCAATTTC	0.438000													12	412					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046973	71046973	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:71046973C>T	uc002shf.3	-	1	189	c.112G>A	c.(112-114)Gtt>Att	p.V38I	CLEC4F_uc010yqv.1_Missense_Mutation_p.V38I	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	38					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAGCCTGAACGAGCCTCGGT	0.552000													18	29					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507505	17507505	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:17507505G>A	uc003ncb.3	+	4	649	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.V110I|CAP2_uc011djb.2_Missense_Mutation_p.V136I|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	136					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.V136I(6)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTTTCGGCCGTCAGCGAAAG	0.483000													4	58					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222805661	222805661	+	Silent	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:222805661G>C	uc001hnl.3	+	4	3333	c.3324G>C	c.(3322-3324)ctG>ctC	p.L1108L	MIA3_uc009xea.1_Silent_p.L944L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1108					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAAGACCTGGACCCAGGTA	0.458000													8	75					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137425	40137425	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137425G>A	uc021qgf.1	-	0	418	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	LRRC4C_uc001mxc.1_Missense_Mutation_p.P136S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P136S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P140S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P136S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	140					regulation of axonogenesis	integral to membrane	protein binding	p.P140P(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTCCATTCGGGATGGTAGTA	0.428000													12	39					0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526259	109526259	+	Missense_Mutation	SNP	G	G	A	rs140769082		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr12:109526259G>A	uc001tnx.2	-	3	931	c.538C>T	c.(538-540)Cct>Tct	p.P180S	ALKBH2_uc001tny.2_Missense_Mutation_p.P180S|ALKBH2_uc010sxj.1_Missense_Mutation_p.P180S|ALKBH2_uc009zvd.2_Silent_p.P113P|ALKBH2_uc010sxk.1_Silent_p.P113P	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	180	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GGGCTCCCAGGGGCCAGTTCT	0.537000								Direct reversal of damage					44	70					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170679	58170679	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:58170679G>T	uc010rkf.2	-	0	204	c.204C>A	c.(202-204)gaC>gaA	p.D68E		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGCAAAAGTCCACTAGAG	0.413000													44	74					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036204	48036204	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:48036204C>T	uc011dwm.2	-	0	222	c.188G>A	c.(187-189)cGc>cAc	p.R63H	PTCHD4_uc011dwn.2_Intron|PTCHD4_uc003ozf.2_Missense_Mutation_p.R63H	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	63						integral to membrane	hedgehog receptor activity										GGGCTGGAAGCGGTTGAGCGC	0.667000													16	27					0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2769012	2769012	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:2769012G>A	uc002lwi.1	-	1	202	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F		NM_003021	NP_003012	O43765	SGTA_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha (SGTA), mRNA.	19					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCCGGAGCTGGTCATGC	0.637000													42	56					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121356219	121356219	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:121356219T>A	uc003kst.1	+	5	861	c.789T>A	c.(787-789)gaT>gaA	p.D263E		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	Homo sapiens serum response factor binding protein 1 (SRFBP1), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ATTTTGATGATAGCACAGAAG	0.408000													42	74					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58467116	58467116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr20:58467116G>A	uc002yaz.3	-	22	2432	c.2293C>T	c.(2293-2295)Caa>Taa	p.Q765*		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	765					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTATGACTTTGCACATTTTTG	0.338000													17	21					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110396299	110396299	+	Splice_Site	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:110396299G>A	uc003yne.3	+	5	522	c.418_splice	c.e5-1	p.A140_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	140					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTTTTACAGGCAAAAAGTTT	0.289000										HNSCC(38;0.096)			4	171					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149922490	149922490	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:149922490A>G	uc003lsk.4	+	9	2429	c.1927A>G	c.(1927-1929)Atc>Gtc	p.I643V	NDST1_uc011dcj.2_Missense_Mutation_p.I643V	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	643	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAGGAGATCCAGTTTTT	0.577000													5	239					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784549	143784549	+	Silent	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:143784549C>T	uc011ljv.2	+	2	675	c.258C>T	c.(256-258)tcC>tcT	p.S86S	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_Missense_Mutation_p.R76C	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	86	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCAGTGCTCCGCTGGTTGTG	0.483000													4	121					0	0	1	0	0
THAP1	55145	broad.mit.edu	37	8	42693430	42693430	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:42693430G>A	uc003xpk.3	-	2	554	c.317C>T	c.(316-318)cCg>cTg	p.P106L	THAP1_uc003xpl.3_Missense_Mutation_p.R41C	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 1 (THAP1), transcript variant 1, mRNA.	106	Pro-rich.				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AACAGGAGGCGGTAAAGGAGG	0.413000													7	113					0	0	1	0	0
MAMSTR	284358	broad.mit.edu	37	19	49217169	49217169	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:49217169G>A	uc002pkg.2	-	7	919	c.857C>T	c.(856-858)tCa>tTa	p.S286L	MAMSTR_uc002pkf.2_Missense_Mutation_p.S183L	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	286	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CAGAGCCgctgagcccggccc	0.672000													12	81					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522701	97522701	+	Silent	SNP	T	T	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr9:97522701T>A	uc004ava.3	+	0	771	c.636T>A	c.(634-636)gcT>gcA	p.A212A	C9orf3_uc011lui.2_Non-coding_Transcript|C9orf3_uc004aux.2_Silent_p.A212A|C9orf3_uc004auy.3_Silent_p.A212A|C9orf3_uc004auz.1_Silent_p.A212A	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	212					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCAGCCAGGCTCCTGGCTGTG	0.502000													20	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058771	9058771	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:9058771T>C	uc002mkp.3	-	2	28879	c.28675A>G	c.(28675-28677)Atg>Gtg	p.M9559V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9561	Ser-rich.|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						GTGGAAACCATGTTGTCTCTT	0.493000													11	16					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35627723	35627723	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:35627723C>A	uc002hnm.3	-	9	1118	c.927G>T	c.(925-927)atG>atT	p.M309I	ACACA_uc002hnk.3_Missense_Mutation_p.M231I|ACACA_uc002hnl.3_Missense_Mutation_p.M251I|ACACA_uc002hnn.3_Missense_Mutation_p.M309I|ACACA_uc002hno.3_Missense_Mutation_p.M346I|ACACA_uc010cuz.3_Missense_Mutation_p.M309I	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	309	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGGCCTTGATCATTACTGGAT	0.393000													4	150					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647434	20647434	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:20647434C>T	uc002rdv.3	+	0	600	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_004040	NP_004031	P62745	RHOB_HUMAN	Homo sapiens ras homolog gene family, member B (RHOB), mRNA.	70					Rho protein signal transduction|angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGACCGCCTGCGGCCGCTCTC	0.647000													7	80					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	63999809	63999809	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:63999809A>T	uc001dbf.3	+	5	1020	c.726A>T	c.(724-726)aaA>aaT	p.K242N		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	242							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GGAAGTTCAAAACATCTGTTT	0.363000													17	58					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43203169	43203169	+	Splice_Site	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:43203169A>G	uc003bdd.2	-	14	1541	c.1321_splice	c.e14-1	p.Y441_splice	ARFGAP3_uc010gzf.2_Splice_Site_p.Y397_splice	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	441					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGGTCTCATACTAGAGAAGA	0.512000													7	8					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062820	208062820	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:208062820G>A	uc001hgw.1	-	4	1002	c.744C>T	c.(742-744)gcC>gcT	p.A248A	CD34_uc001hgv.1_Silent_p.A90A|CD34_uc001hgx.1_Silent_p.A248A|CD34_uc010psj.1_Silent_p.A113A	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	248					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGTTCTGTTGGCCAAGACCA	0.592000													8	8					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816735	43816735	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr9:43816735G>C	uc004ada.2	+	5	1251	c.841G>C	c.(841-843)Gac>Cac	p.D281H	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	281	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CGAGCTCCTCGACACGCAGGT	0.488000													5	46					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110833688	110833688	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr13:110833688C>T	uc001vqw.4	-	28	2266	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	715	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAATCCCGGGCGACCTGGAGT	0.498000													18	15					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699517	17699517	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:17699517G>A	uc002rcl.1	-	0	190	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	RAD51AP2_uc010exn.1_Missense_Mutation_p.R47C	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	56										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAGACAAGCGAGGCACCAGA	0.552000													8	102					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51172430	51172430	+	Silent	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:51172430C>A	uc002psx.1	-	21	2806	c.2787G>T	c.(2785-2787)ccG>ccT	p.P929P	SHANK1_uc002psw.1_Silent_p.P313P	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	929					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGGAGGCTCCGGTGGGGACG	0.672000											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	1	0	0
SNRPD2	6633	broad.mit.edu	37	19	46191769	46191769	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:46191769C>G	uc002pcw.3	-	1	355	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	SNRPD2_uc002pcv.3_Missense_Mutation_p.E10Q	NM_004597	NP_808210	P62316	SMD2_HUMAN	Homo sapiens small nuclear ribonucleoprotein D2 polypeptide 16.5kDa (SNRPD2), transcript variant 1, mRNA.	20					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TCCTCCTCCTCTCGCTTCTGC	0.502000													45	73					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675730	100675730	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:100675730C>T	uc003uxp.1	+	2	1086	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	345	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTTGCCAC	0.488000													5	326					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660518	90660518	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:90660518C>A	uc011eab.2	-	6	2181	c.1307G>T	c.(1306-1308)aGc>aTc	p.S436I	BACH2_uc003pnw.3_Missense_Mutation_p.S436I|BACH2_uc010kch.3_Missense_Mutation_p.S436I	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	436						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCACAAGCGCTGGAGGAGAA	0.592000													3	41					0	0	1	0	0
RELL1	768211	broad.mit.edu	37	4	37640115	37640115	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr4:37640115C>A	uc003gsz.2	-	3	487	c.397G>T	c.(397-399)Gtc>Ttc	p.V133F	RELL1_uc010ifc.3_Missense_Mutation_p.V133F	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA.	133						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						GCCTTTAAGACATCAGCATTC	0.358000													17	30					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702387	43702387	+	Silent	SNP	A	A	G	rs137963702	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:43702387A>G	uc002ovy.3	-	2	573	c.471T>C	c.(469-471)aaT>aaC	p.N157N	PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Silent_p.N157N|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	157	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTCCCTGGGATTTAAGTTGC	0.532000													4	213					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68855984	68855984	+	Missense_Mutation	SNP	C	C	G	rs121964877		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:68855984C>G	uc002ewg.1	+	11	1916	c.1792C>G	c.(1792-1794)Cga>Gga	p.R598G	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.R537G	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	598	Cadherin 5.		R -> Q (in a gastric cancer sample).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.R598Q(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACCAGAACCTCGAACTATATT	0.453000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				4	83					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118479418	118479418	+	Silent	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:118479418G>T	uc010oxe.1	+	3	474	c.408G>T	c.(406-408)gtG>gtT	p.V136V	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_5'UTR	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	136						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATGGGATGTGATCAATGAAA	0.368000													21	26					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531324	190531324	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:190531324C>G	uc002uqt.3	+	3	900	c.466C>G	c.(466-468)Ctc>Gtc	p.L156V		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	156	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAGTTTCTGCCTCTCTTCAGT	0.398000													51	81					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011562	46011562	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr21:46011562G>C	uc002zfm.3	-	0	825	c.804C>G	c.(802-804)caC>caG	p.H268Q	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	268	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.H268Q(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGCAGGCGTGCTGGCAGG	0.642000													4	167					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45946380	45946380	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:45946380G>A	uc010gzz.3	+	14	1843	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	FBLN1_uc003bgg.1_Missense_Mutation_p.E528K|FBLN1_uc003bgh.3_Missense_Mutation_p.E528K|FBLN1_uc003bgi.1_Missense_Mutation_p.E528K|FBLN1_uc003bgj.1_Missense_Mutation_p.E528K	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	528	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGACATTGATGAGTGTGTGAC	0.587000													9	35					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285375	220285375	+	Silent	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:220285375G>T	uc002vll.3	+	3	980	c.894G>T	c.(892-894)tcG>tcT	p.S298S		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	298	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGTACAAGTCGAAGGTGGGTG	0.602000													27	38					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938642	107938642	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:107938642C>G	uc022ccg.1	+	51	5169	c.4967C>G	c.(4966-4968)gCa>gGa	p.A1656G	COL4A5_uc004enz.1_Missense_Mutation_p.A1650G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1650	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTGGCTGGCAACTGTAGAT	0.448000									Alport syndrome with Diffuse Leiomyomatosis				38	4					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101347235	101347235	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:101347235C>A	uc001pgk.4	-	5	1966	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	TRPC6_uc009ywy.3_Missense_Mutation_p.W398L|TRPC6_uc009ywz.1_Missense_Mutation_p.W459L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	514					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCCCTGAGTCCAGATTTCTTT	0.383000													5	73					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152698423	152698423	+	Silent	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:152698423C>T	uc002tya.3	-	12	1364	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	CACNB4_uc002txy.3_Silent_p.G398G|CACNB4_uc002txz.3_Silent_p.G414G|CACNB4_uc010fnz.3_Intron	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	432					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.G432G(3)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATACCTGTAACCCAGAAATTG	0.473000													39	73					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54860001	54860001	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr15:54860001T>C	uc021smr.1	+	27	5956	c.5956T>C	c.(5956-5958)Tac>Cac	p.Y1986H	UNC13C_uc021sms.1_Missense_Mutation_p.Y1988H	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1988	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGTAGCAATACTTTCATGC	0.353000													5	9					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530499	140530499	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:140530499C>T	uc003lir.3	+	0	661	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCCGCCCCGGTCAGGGAC	0.582000													4	48					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													5	8	---	---	---	---					
GBP3	2635	broad.mit.edu	37	1	89479884	89479885	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:89479884_89479885delAA	uc001dmt.3	-	4	711_712	c.506_507delTT	c.(505-507)tttfs	p.F169fs	GBP3_uc010oss.2_Frame_Shift_Del_p.F90fs|GBP3_uc001dmu.3_Frame_Shift_Del_p.F35fs|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Frame_Shift_Del_p.F169fs	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	169						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGAAGCTCACAAAGTCAGCTGA	0.455													32	58	---	---	---	---					
RBKS	64080	broad.mit.edu	37	2	28070964	28070964	+	Splice_Site	DEL	C	C	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:28070964delC	uc002rlo.1	-	3	234	c.223_splice	c.e3-1	p.V75_splice	RBKS_uc010ezi.1_Splice_Site_p.V8_splice|RBKS_uc010ymg.2_Splice_Site_p.V75_splice	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	75					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TCTTTGCCAACCTGTACCAAA	0.279													2	4	---	---	---	---					
ANKRD23	200539	broad.mit.edu	37	2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:97505817delG	uc002sxa.3	-	6	669	c.640delC	c.(640-642)ctgfs	p.L214fs	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Del_p.L172fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	214						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCACGTGCAGGGGGGTGCTC	0.637													2	4	---	---	---	---					
ARHGDIA	396	broad.mit.edu	37	17	79826902	79826904	+	In_Frame_Del	DEL	CTC	CTC	-	rs150457411		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:79826902_79826904delCTC	uc021uff.1	-	5	769_771	c.463_465delGAG	c.(463-465)gagdel	p.E155del	AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_In_Frame_Del_p.E155del|ARHGDIA_uc021ufg.1_Intron|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	155					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGAACTCGTACTCCTCGGCCCGG	0.650													9	49	---	---	---	---					
