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
ARID1A	8289	broad.mit.edu	37	1	27057730	27057730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:27057730C>T	uc001bmv.1	+	3	1811	c.1438C>T	c.(1438-1440)CAG>TAG	p.Q480*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q480*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q480*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q97*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	480	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCACCCTCAGCAGCAGCAGCC	0.567000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
C1orf109	54955	broad.mit.edu	37	1	38155399	38155399	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:38155399C>T	uc001cbp.2	-	2	344	c.154G>A	c.(154-156)GCA>ACA	p.A52T	C1orf109_uc010oig.1_Missense_Mutation_p.A115T|C1orf109_uc001cbo.2_Missense_Mutation_p.A114T|C1orf109_uc001cbq.1_Missense_Mutation_p.A52T|CDCA8_uc001cbr.2_5'Flank|CDCA8_uc001cbs.2_5'Flank	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	hypothetical protein LOC54955	52											0		Myeloproliferative disorder(586;0.0393)				AGGTTCTGTGCGGCCTGCAGC	0.652000												
USP24	23358	broad.mit.edu	37	1	55619860	55619860	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:55619860C>A	uc001cyg.3	-	13	1312	c.1312G>T	c.(1312-1314)GAT>TAT	p.D438Y		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	582					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						GCATATGCATCACTAAGGATT	0.438000												
TNNI3K	51086	broad.mit.edu	37	1	75009634	75009634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:75009634C>T	uc001dgf.1	+	25	2527	c.2476C>T	c.(2476-2478)CGA>TGA	p.R826*	TNNI3K_uc001dge.1_Nonsense_Mutation_p.R927*	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	826						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TCATTCTTGCCGAAATAGTAG	0.453000												
WDR47	22911	broad.mit.edu	37	1	109538366	109538366	+	Silent	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:109538366G>T	uc001dwj.2	-	8	1903	c.1527C>A	c.(1525-1527)GGC>GGA	p.G509G	WDR47_uc001dwl.2_Silent_p.G517G|WDR47_uc001dwi.2_Silent_p.G510G|WDR47_uc001dwk.2_Silent_p.G481G|WDR47_uc010ovf.1_Silent_p.G436G	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	509										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TAGATCCATTGCCTTTGCTCC	0.393000												
SHE	126669	broad.mit.edu	37	1	154474183	154474183	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:154474183C>T	uc001ffb.2	-	1	407	c.320G>A	c.(319-321)AGC>AAC	p.S107N	SHE_uc001ffc.2_RNA|TDRD10_uc001ffd.2_5'Flank|TDRD10_uc009wow.2_5'Flank	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	107										breast(3)|ovary(2)|central_nervous_system(1)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCCTGCAGGCTGTCGCGGGA	0.741000												
PTPRC	5788	broad.mit.edu	37	1	198676006	198676006	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:198676006A>T	uc001gur.1	+	9	1003	c.823A>T	c.(823-825)AAA>TAA	p.K275*	PTPRC_uc001gus.1_Nonsense_Mutation_p.K227*|PTPRC_uc001gut.1_Nonsense_Mutation_p.K114*|PTPRC_uc009wzf.1_Nonsense_Mutation_p.K163*|PTPRC_uc010ppg.1_Nonsense_Mutation_p.K211*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	275	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TACAGAATGTAAAAATGCGTC	0.303000												
C1orf107	27042	broad.mit.edu	37	1	210008472	210008472	+	Silent	SNP	T	T	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr1:210008472T>A	uc001hhr.1	+	5	691	c.615T>A	c.(613-615)GCT>GCA	p.A205A	C1orf107_uc009xcu.1_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	205					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		CAATTCAGGCTGTTGCCACAA	0.393000												
GPR158	57512	broad.mit.edu	37	10	25886899	25886899	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr10:25886899G>A	uc001isj.2	+	11	2404	c.2344G>A	c.(2344-2346)GCC>ACC	p.A782T	GPR158_uc001isk.2_Missense_Mutation_p.A157T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	782	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CCATGGCACAGCCAAAGGCAC	0.562000												
CCDC147	159686	broad.mit.edu	37	10	106159127	106159127	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr10:106159127C>A	uc001kyh.2	+	12	1818	c.1684C>A	c.(1684-1686)CAG>AAG	p.Q562K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	562	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGCTGAGCTGCAGAAGCTGAG	0.468000												
NAV2	89797	broad.mit.edu	37	11	20113856	20113856	+	Silent	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr11:20113856G>T	uc001mpr.3	+	28	6127	c.5766G>T	c.(5764-5766)CCG>CCT	p.P1922P	NAV2_uc001mpp.2_Silent_p.P1855P|NAV2_uc009yhx.2_Silent_p.P983P|NAV2_uc009yhz.2_Silent_p.P564P|NAV2_uc001mpu.2_Silent_p.P357P	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1978						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CTGCCTCCCCGAGGCAGTCCA	0.577000												
GYLTL1B	120071	broad.mit.edu	37	11	45949117	45949117	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr11:45949117C>A	uc001nbv.1	+	11	1688	c.1577C>A	c.(1576-1578)CCT>CAT	p.P526H	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P495H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P526H|GYLTL1B_uc001nby.1_Missense_Mutation_p.P209H|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	526	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		GACTTCCTGCCTGCCTATTCT	0.607000												
KRT76	51350	broad.mit.edu	37	12	53169377	53169377	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:53169377G>T	uc001sax.2	-	2	664	c.610C>A	c.(610-612)CTG>ATG	p.L204M		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	204	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						TGCTGTTCCAGGAACCGCACC	0.567000												
DNAJC14	85406	broad.mit.edu	37	12	56221057	56221057	+	Silent	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:56221057G>T	uc001shx.1	-	2	1590	c.1386C>A	c.(1384-1386)GCC>GCA	p.A462A	DNAJC14_uc001shu.1_Silent_p.A462A|DNAJC14_uc009zob.1_Silent_p.A462A|DNAJC14_uc001shy.1_Silent_p.A462A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	462	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						GCTGTCTATAGGCCTTCTTCA	0.408000												
MIP	4284	broad.mit.edu	37	12	56847476	56847476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:56847476C>T	uc001slh.2	-	2	456	c.424G>A	c.(424-426)GTG>ATG	p.V142M		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	142	Helical; (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						ATGCAGAGCACGAACTGGAGC	0.607000												
PTPRB	5787	broad.mit.edu	37	12	70956659	70956659	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:70956659T>A	uc001swb.3	-	14	3509	c.3479A>T	c.(3478-3480)GAG>GTG	p.E1160V	PTPRB_uc010sto.1_Missense_Mutation_p.E1070V|PTPRB_uc010stp.1_Missense_Mutation_p.E1070V|PTPRB_uc001swc.3_Missense_Mutation_p.E1378V|PTPRB_uc001swa.3_Missense_Mutation_p.E1290V|PTPRB_uc001swd.3_Missense_Mutation_p.E1377V|PTPRB_uc009zrr.1_Missense_Mutation_p.E1257V	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1160	Fibronectin type-III 13.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTAGACAGCTCCCCACTGTG	0.463000												
PPFIA2	8499	broad.mit.edu	37	12	81741521	81741521	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr12:81741521C>T	uc001szo.1	-	18	2184	c.2023G>A	c.(2023-2025)GAG>AAG	p.E675K	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	601										ovary(3)|lung(2)|pancreas(1)	6						GCACGCAACTCTGTAGATTCT	0.398000												
C14orf1	11161	broad.mit.edu	37	14	76118161	76118161	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr14:76118161C>T	uc001xrt.2	-	4	742	c.296G>A	c.(295-297)GGA>GAA	p.G99E	C14orf1_uc001xru.2_RNA	NM_007176	NP_009107	Q9UKR5	ERG28_HUMAN	ergosterol biosynthetic protein 28	99	Helical; (Potential).				sterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|transport vesicle					0		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		AGCTGCAGTTCCATAGACAAA	0.542000												
RYR3	6263	broad.mit.edu	37	15	34078174	34078174	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr15:34078174C>T	uc001zhi.2	+	66	9650	c.9580C>T	c.(9580-9582)CGC>TGC	p.R3194C	RYR3_uc010bar.2_Missense_Mutation_p.R3194C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3194					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGATGAAGCGCATTGCAGG	0.493000												
HCN4	10021	broad.mit.edu	37	15	73616535	73616535	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr15:73616535G>A	uc002avp.2	-	7	3032	c.2038C>T	c.(2038-2040)CGC>TGC	p.R680C		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	680	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GAGTAGAGGCGGCAGTAGGTG	0.647000												
PTX4	390667	broad.mit.edu	37	16	1537353	1537353	+	Silent	SNP	G	G	T	rs140959519	by1000genomes	TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr16:1537353G>T	uc010uvf.1	-	2	745	c.745C>A	c.(745-747)CGG>AGG	p.R249R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	254						extracellular region	metal ion binding				0						GCCTGCTGCCGAGGGTCTTTT	0.677000												
IRX6	79190	broad.mit.edu	37	16	55363168	55363168	+	Silent	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr16:55363168G>A	uc002ehy.2	+	5	1811	c.1278G>A	c.(1276-1278)CCG>CCA	p.P426P	IRX6_uc002ehx.2_Silent_p.P426P	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	426						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						ACTGTGCGCCGTGCCCGCGGA	0.617000												
SLC12A4	6560	broad.mit.edu	37	16	67986303	67986303	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr16:67986303A>G	uc002euz.2	-	7	842	c.701T>C	c.(700-702)ATT>ACT	p.I234T	SLC12A4_uc010ceu.2_Missense_Mutation_p.I228T|SLC12A4_uc010vkh.1_Missense_Mutation_p.I203T|SLC12A4_uc010vki.1_Missense_Mutation_p.I234T|SLC12A4_uc010vkj.1_Missense_Mutation_p.I236T|SLC12A4_uc002eva.2_Missense_Mutation_p.I234T|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_Missense_Mutation_p.F156L	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	234	Helical; (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGGTAAAAAATGGCAGCTGG	0.428000												
CDH1	999	broad.mit.edu	37	16	68847398	68847398	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr16:68847398G>T	uc002ewg.1	+	9	1444	c.1320G>T	c.(1318-1320)AAG>AAT	p.K440N	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	440	Cadherin 3.|Extracellular (Potential).				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	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		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)		AAACAGCAAAGGTTTGTATGG	0.458000			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
DNAH2	146754	broad.mit.edu	37	17	7646393	7646393	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:7646393C>T	uc002giu.1	+	11	1851	c.1837C>T	c.(1837-1839)CGG>TGG	p.R613W	DNAH2_uc002git.2_Missense_Mutation_p.R695W|DNAH2_uc010vuk.1_Missense_Mutation_p.R613W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	613	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCATTCGGCGGTTGGATAC	0.527000												
ODF4	146852	broad.mit.edu	37	17	8243564	8243564	+	Silent	SNP	G	G	A	rs144163492	byFrequency	TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:8243564G>A	uc002gle.1	+	1	377	c.195G>A	c.(193-195)CCG>CCA	p.P65P		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	65					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1						AGAACTCTCCGCTGCCCTTTC	0.582000												
PIK3R6	146850	broad.mit.edu	37	17	8706636	8706636	+	Silent	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:8706636C>T	uc002glq.1	-	21	2460	c.2220G>A	c.(2218-2220)AAG>AAA	p.K740K	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	740					platelet activation	cytosol					0						TCAGAAGGGGCTTGGGCTTGG	0.562000												
KIAA0100	9703	broad.mit.edu	37	17	26961821	26961821	+	Silent	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:26961821G>A	uc002hbu.2	-	16	2883	c.2784C>T	c.(2782-2784)GCC>GCT	p.A928A		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	928						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CAATTTTGCGGGCAGGCAACA	0.517000												
LRRC37A3	374819	broad.mit.edu	37	17	62856783	62856783	+	Silent	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr17:62856783G>T	uc002jey.2	-	11	4012	c.3481C>A	c.(3481-3483)CGG>AGG	p.R1161R	LRRC37A3_uc010wqg.1_Silent_p.R279R|LRRC37A3_uc002jex.1_Silent_p.R138R|LRRC37A3_uc010wqf.1_Silent_p.R199R|LRRC37A3_uc010dek.1_Silent_p.R167R	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1161	Extracellular (Potential).|LRR 11.					integral to membrane					0						AGTCTCTGCCGGTTTTTGCCT	0.493000												
ALPK2	115701	broad.mit.edu	37	18	56246747	56246747	+	Missense_Mutation	SNP	C	C	T	rs150536488		TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr18:56246747C>T	uc002lhj.3	-	4	1475	c.1261G>A	c.(1261-1263)GGT>AGT	p.G421S		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	421							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GATGAGGGACCGTGCTTGGAG	0.557000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF44	51710	broad.mit.edu	37	19	12384413	12384413	+	Silent	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr19:12384413G>A	uc010xmj.1	-	5	1006	c.801C>T	c.(799-801)CAC>CAT	p.H267H	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Silent_p.H219H	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	267	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCTCTCCAGTGTGAGTTCTTT	0.393000												
PSG1	5669	broad.mit.edu	37	19	43372328	43372328	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr19:43372328C>T	uc002ovb.2	-	5	1306	c.1168G>A	c.(1168-1170)GGG>AGG	p.G390R	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.G390R|PSG1_uc010eio.1_Missense_Mutation_p.G390R|PSG1_uc002oux.1_Missense_Mutation_p.G319R|PSG1_uc002ouy.1_Missense_Mutation_p.G297R|PSG1_uc002ouz.1_Missense_Mutation_p.G390R|PSG1_uc002ova.1_Missense_Mutation_p.G297R|PSG1_uc002ovc.2_Missense_Mutation_p.G297R|PSG1_uc002ovd.1_Missense_Mutation_p.G390R	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	390	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				ACATAGAGCCCGCTATGCTTT	0.468000												
ZNF550	162972	broad.mit.edu	37	19	58058384	58058384	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr19:58058384G>A	uc002qpe.1	-	2	1105	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	410	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGACCTGCGTTTGAAGGCC	0.493000												
PUM2	23369	broad.mit.edu	37	2	20455840	20455840	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:20455840A>G	uc002rds.1	-	16	2599	c.2576T>C	c.(2575-2577)GTT>GCT	p.V859A	PUM2_uc002rdq.1_Missense_Mutation_p.V238A|PUM2_uc002rdt.1_Missense_Mutation_p.V859A|PUM2_uc002rdr.2_Missense_Mutation_p.V719A|PUM2_uc010yjy.1_Missense_Mutation_p.V780A|PUM2_uc002rdu.1_Missense_Mutation_p.V859A|PUM2_uc010yjz.1_Missense_Mutation_p.V798A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	861	PUM-HD.|Pumilio 4.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGGCTGAACACATTCGAT	0.368000												
LRRTM1	347730	broad.mit.edu	37	2	80530382	80530382	+	Missense_Mutation	SNP	T	T	C	rs151115994		TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:80530382T>C	uc002sok.1	-	2	833	c.563A>G	c.(562-564)AAG>AGG	p.K188R	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	188	LRR 5.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTCGAGAAACTTGAGGCTGCG	0.587000										HNSCC(69;0.2)		
MYO7B	4648	broad.mit.edu	37	2	128377979	128377979	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:128377979C>T	uc002top.2	+	26	3438	c.3385C>T	c.(3385-3387)CGG>TGG	p.R1129W	MYO7B_uc002toq.1_5'UTR|MYO7B_uc002tor.1_5'UTR	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1129	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGCCTGGCCCGGGGCTGGAT	0.587000												
TTN	7273	broad.mit.edu	37	2	179395780	179395780	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:179395780T>A	uc010zfg.1	-	307	98082	c.97858A>T	c.(97858-97860)ATC>TTC	p.I32620F	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I26315F|TTN_uc010zfi.1_Missense_Mutation_p.I26248F|TTN_uc010zfj.1_Missense_Mutation_p.I26123F|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33547							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGAAGAGATCTCAAAGGTT	0.488000												
UGT1A1	54658	broad.mit.edu	37	2	234669274	234669274	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:234669274A>T	uc002vvb.2	+	1	356	c.341A>T	c.(340-342)AAG>ATG	p.K114M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.K114M	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	114					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAAACATACAAGAAAATAAAA	0.438000												
MTERFD2	130916	broad.mit.edu	37	2	242035431	242035431	+	Silent	SNP	G	G	A	rs114631297	by1000genomes	TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr2:242035431G>A	uc002wan.1	-	3	1708	c.1215C>T	c.(1213-1215)GAC>GAT	p.D405D	MTERFD2_uc010zoj.1_Silent_p.D188D	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	376										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCtcgtcgtcgtcctcatcct	0.204000												
RBM12	10137	broad.mit.edu	37	20	34243149	34243149	+	Silent	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr20:34243149G>A	uc002xdq.2	-	3	328	c.96C>T	c.(94-96)GGC>GGT	p.G32G	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_5'UTR|CPNE1_uc002xdf.2_5'UTR|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_5'UTR|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_5'UTR|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA|RBM12_uc002xdr.2_Silent_p.G32G|RBM12_uc002xds.2_Silent_p.G32G	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	32						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAATATGCACGCCCCCATCAG	0.517000											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
CHD6	84181	broad.mit.edu	37	20	40084457	40084457	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr20:40084457C>A	uc002xka.1	-	19	3170	c.2992G>T	c.(2992-2994)GGG>TGG	p.G998W	CHD6_uc002xkd.2_Missense_Mutation_p.G976W	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	998					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AAAGTGGACCCTTTCCCCTCA	0.483000												
KRTAP26-1	388818	broad.mit.edu	37	21	31691948	31691948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr21:31691948C>A	uc002ynw.2	-	1	660	c.406G>T	c.(406-408)GGA>TGA	p.G136*		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	136						intermediate filament				ovary(1)	1						ACACAGTCTCCTATGGGCTGG	0.552000												
COL18A1	80781	broad.mit.edu	37	21	46875460	46875460	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr21:46875460T>C	uc011afs.1	+	1	37	c.16T>C	c.(16-18)TGT>CGT	p.C6R	COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Missense_Mutation_p.C6R	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	6					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCCTACCCCTGTGGCTGCCA	0.672000												
ARFGAP3	26286	broad.mit.edu	37	22	43195060	43195060	+	Silent	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr22:43195060G>A	uc003bdd.2	-	15	1738	c.1518C>T	c.(1516-1518)GTC>GTT	p.V506V	ARFGAP3_uc010gzf.2_Silent_p.V462V	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	506					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						TTGAAGTCACGACTCCATTAG	0.527000												
SBF1	6305	broad.mit.edu	37	22	50900900	50900900	+	Silent	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr22:50900900C>T	uc003blh.2	-	19	2325	c.2130G>A	c.(2128-2130)GAG>GAA	p.E710E	SBF1_uc011arx.1_Silent_p.E374E|SBF1_uc003bli.2_Silent_p.E711E	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	710					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCCCAACCTCCTGCCACG	0.587000												
SATB1	6304	broad.mit.edu	37	3	18390940	18390940	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr3:18390940C>T	uc003cbh.2	-	11	3749	c.2014G>A	c.(2014-2016)GAA>AAA	p.E672K	SATB1_uc003cbi.2_Missense_Mutation_p.E704K|SATB1_uc003cbj.2_Missense_Mutation_p.E672K	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	672	Homeobox.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						ATGGCCTCTTCGTCAGGGTAC	0.517000												
KCNMB3	27094	broad.mit.edu	37	3	178962330	178962330	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr3:178962330T>C	uc003fjm.2	-	3	924	c.412A>G	c.(412-414)AAA>GAA	p.K138E	KCNMB3_uc003fjl.3_RNA|KCNMB3_uc011bqc.1_Missense_Mutation_p.K136E|KCNMB3_uc003fjn.2_Missense_Mutation_p.K134E|KCNMB3_uc003fjo.2_Missense_Mutation_p.K116E|KCNMB3_uc003fjp.1_Missense_Mutation_p.K136E	NM_014407	NP_055222	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3	138	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			AGGAGAGCTTTCTGACCTGGA	0.498000												
APOD	347	broad.mit.edu	37	3	195295971	195295971	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr3:195295971C>T	uc003fur.2	-	5	732	c.370G>A	c.(370-372)GAC>AAC	p.D124N		NM_001647	NP_001638	P05090	APOD_HUMAN	apolipoprotein D precursor	124					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			ovary(2)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCTCATAGTCGGTGGCCAGG	0.493000												
LRCH3	84859	broad.mit.edu	37	3	197598304	197598304	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr3:197598304C>A	uc011bul.1	+	19	2106	c.2101C>A	c.(2101-2103)CCA>ACA	p.P701T	LRCH3_uc003fyj.1_Missense_Mutation_p.P701T|LRCH3_uc011bum.1_Missense_Mutation_p.P649T|LRCH3_uc011bun.1_Missense_Mutation_p.P547T|LRCH3_uc003fyk.2_Missense_Mutation_p.P296T	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	701	CH.					extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCGATCTGTCCCAAGCATTCA	0.433000												
POLN	353497	broad.mit.edu	37	4	2082754	2082754	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr4:2082754G>A	uc003ger.2	-	21	2318	c.2318C>T	c.(2317-2319)GCT>GTT	p.A773V	POLN_uc010icg.1_Missense_Mutation_p.A221V|POLN_uc010ich.1_3'UTR	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	773					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCAGAGGTCAGCAGCGGAGCC	0.602000								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
FGF5	2250	broad.mit.edu	37	4	81188284	81188284	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr4:81188284G>T	uc003hmd.2	+	1	543	c.306G>T	c.(304-306)CAG>CAT	p.Q102H	FGF5_uc003hme.2_Missense_Mutation_p.Q102H	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	102					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2						TCCATCTGCAGATCTACCCGG	0.572000												
WDR17	116966	broad.mit.edu	37	4	177073081	177073081	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr4:177073081T>A	uc003iuj.2	+	18	2651	c.2495T>A	c.(2494-2496)ATT>AAT	p.I832N	WDR17_uc003iuk.2_Missense_Mutation_p.I808N|WDR17_uc003ium.3_Missense_Mutation_p.I808N|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.I51N	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	832										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGGACAAATTCAGAGATAC	0.363000												
ADCY2	108	broad.mit.edu	37	5	7784525	7784525	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:7784525C>A	uc003jdz.1	+	19	2499	c.2432C>A	c.(2431-2433)TCT>TAT	p.S811Y	ADCY2_uc011cmo.1_Missense_Mutation_p.S631Y|ADCY2_uc010itm.1_Missense_Mutation_p.S7Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	811	Helical; (Potential).				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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GTGTCTCTCTCTATATTCTTC	0.378000												
MAP1B	4131	broad.mit.edu	37	5	71491474	71491474	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:71491474G>T	uc003kbw.3	+	5	2533	c.2292G>T	c.(2290-2292)GAG>GAT	p.E764D	MAP1B_uc010iyw.1_Missense_Mutation_p.E781D|MAP1B_uc010iyx.1_Missense_Mutation_p.E638D|MAP1B_uc010iyy.1_Missense_Mutation_p.E638D	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	764	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAGGAAGAGTCTGTCAAGA	0.438000												
SEMA6A	57556	broad.mit.edu	37	5	115782630	115782630	+	Silent	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:115782630C>T	uc010jck.2	-	19	3481	c.2772G>A	c.(2770-2772)TCG>TCA	p.S924S	SEMA6A_uc003krx.3_Silent_p.S941S|SEMA6A_uc011cwe.1_Silent_p.S303S|SEMA6A_uc003krv.3_Silent_p.S351S|SEMA6A_uc003krw.3_Silent_p.S401S|SEMA6A_uc010jcj.2_Silent_p.S468S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	924	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTCTCGTGAGCGAGTTCGTGG	0.552000												
SNCAIP	9627	broad.mit.edu	37	5	121759300	121759300	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:121759300G>A	uc003ksw.1	+	4	1074	c.868G>A	c.(868-870)GCA>ACA	p.A290T	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.A290T|SNCAIP_uc003ksx.1_Missense_Mutation_p.A337T|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.A290T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	290					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATCCTCAGCAGCAGAATCCAA	0.478000												
PCDHA7	56141	broad.mit.edu	37	5	140215247	140215247	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:140215247G>A	uc003lhq.2	+	1	1279	c.1279G>A	c.(1279-1281)GCG>ACG	p.A427T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A427T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTACCGCGCGGGACGG	0.622000												
PCDHB10	56126	broad.mit.edu	37	5	140572186	140572186	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:140572186T>G	uc003lix.2	+	1	235	c.61T>G	c.(61-63)TGG>GGG	p.W21G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	21					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTCTTTTTTGGGGAGTGTC	0.468000												
PCDHB12	56124	broad.mit.edu	37	5	140590251	140590251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr5:140590251C>T	uc003liz.2	+	1	1961	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	PCDHB12_uc011dak.1_Missense_Mutation_p.A254V	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	591	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGGTGGTGGCGGTGGACGGT	0.701000												
C6orf25	80739	broad.mit.edu	37	6	31691520	31691520	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr6:31691520C>A	uc011doc.1	+	2	166	c.166C>A	c.(166-168)CTG>ATG	p.L56M	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.L56M|C6orf25_uc011dod.1_Missense_Mutation_p.L56M|C6orf25_uc011doe.1_Missense_Mutation_p.L56M|C6orf25_uc003nwo.2_Missense_Mutation_p.L56M|C6orf25_uc003nwn.2_Missense_Mutation_p.L56M	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	56	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0						CTGCAAGGGCCTGTCCAAAGG	0.692000												
ZBTB22	9278	broad.mit.edu	37	6	33283022	33283022	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr6:33283022G>A	uc003oeb.2	-	2	1824	c.1672C>T	c.(1672-1674)CGC>TGC	p.R558C	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.R558C	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	558	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTCGGTGGCGCATGAAGCTG	0.642000												
USP42	84132	broad.mit.edu	37	7	6189448	6189448	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:6189448C>A	uc011jwo.1	+	13	1744	c.1621C>A	c.(1621-1623)CTT>ATT	p.L541I	USP42_uc010kth.1_Missense_Mutation_p.L474I|USP42_uc011jwp.1_Missense_Mutation_p.L541I|USP42_uc011jwq.1_Missense_Mutation_p.L348I|USP42_uc011jwr.1_Missense_Mutation_p.L386I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	541					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCAACCTAACCTTCATAGTAA	0.428000												
COL28A1	340267	broad.mit.edu	37	7	7484115	7484115	+	Silent	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:7484115C>T	uc003src.1	-	19	1632	c.1515G>A	c.(1513-1515)GAG>GAA	p.E505E	COL28A1_uc011jxe.1_Silent_p.E188E|COL28A1_uc003srd.2_Silent_p.E60E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	505	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGAGCCTGGCTCTCCCTGGT	0.448000												
EGFR	1956	broad.mit.edu	37	7	55220294	55220294	+	Silent	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:55220294C>T	uc003tqk.2	+	6	930	c.684C>T	c.(682-684)CCC>CCT	p.P228P	EGFR_uc003tqh.2_Silent_p.P228P|EGFR_uc003tqi.2_Silent_p.P228P|EGFR_uc003tqj.2_Silent_p.P228P|EGFR_uc010kzg.1_Silent_p.P183P|EGFR_uc011kco.1_Silent_p.P175P|EGFR_uc003tql.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	228	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAAGTCCCCCAGTGACTGCT	0.617000		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
OR2A5	393046	broad.mit.edu	37	7	143747810	143747810	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:143747810G>T	uc011ktw.1	+	1	316	c.316G>T	c.(316-318)GCT>TCT	p.A106S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					TTTATACATGGCTTTTGCTCA	0.448000												
ZNF467	168544	broad.mit.edu	37	7	149461947	149461947	+	Silent	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:149461947G>A	uc003wgd.2	-	5	1785	c.1644C>T	c.(1642-1644)TGC>TGT	p.C548C	ZNF467_uc003wgc.2_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	548	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTCTTTCCGCACTGCGGGC	0.701000												
DLC1	10395	broad.mit.edu	37	8	12973125	12973125	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr8:12973125C>T	uc003wwm.2	-	6	1834	c.1390G>A	c.(1390-1392)GGT>AGT	p.G464S	DLC1_uc003wwk.1_Missense_Mutation_p.G27S|DLC1_uc003wwl.1_Missense_Mutation_p.G61S|DLC1_uc011kxx.1_5'UTR	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	464	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGGGGAAACCAGTTGCCCGT	0.413000												
DLC1	10395	broad.mit.edu	37	8	13357061	13357061	+	Silent	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr8:13357061G>A	uc003wwm.2	-	2	964	c.520C>T	c.(520-522)CTG>TTG	p.L174L	DLC1_uc003wwn.2_Silent_p.L174L|DLC1_uc011kxy.1_Silent_p.L174L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	174					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TCTTTTACCAGTGCTAATTCA	0.408000												
CA9	768	broad.mit.edu	37	9	35679303	35679303	+	Silent	SNP	T	T	C			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr9:35679303T>C	uc003zxo.3	+	7	1071	c.1029T>C	c.(1027-1029)ACT>ACC	p.T343T	CA9_uc003zxp.3_Silent_p.T343T	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	343	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCATCTGGACTGTGTTTAACC	0.552000												
AUH	549	broad.mit.edu	37	9	93983132	93983132	+	Silent	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr9:93983132C>T	uc004arf.3	-	7	833	c.798G>A	c.(796-798)GCG>GCA	p.A266A	AUH_uc004arg.3_Silent_p.A237A	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	266					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						TCCTGTAGGCCGCGTCTCCCT	0.463000												
CDC14B	8555	broad.mit.edu	37	9	99266039	99266039	+	Missense_Mutation	SNP	C	C	T	rs137968673		TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr9:99266039C>T	uc004awj.2	-	14	1945	c.1493G>A	c.(1492-1494)CGT>CAT	p.R498H	CDC14B_uc004awk.2_Missense_Mutation_p.R459H|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R461H	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	498					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TTTTACTTAACGCAAGACTGT	0.388000												
SARDH	1757	broad.mit.edu	37	9	136597555	136597555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr9:136597555C>T	uc004cep.3	-	3	634	c.500G>A	c.(499-501)AGG>AAG	p.R167K	SARDH_uc004ceo.2_Missense_Mutation_p.R167K|SARDH_uc011mdn.1_Missense_Mutation_p.R167K|SARDH_uc011mdo.1_5'UTR	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	167					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CGACATGAGCCTCTTGTACTC	0.667000												
DCAF12L1	139170	broad.mit.edu	37	X	125686436	125686436	+	Silent	SNP	C	C	T			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chrX:125686436C>T	uc004eul.2	-	1	407	c.156G>A	c.(154-156)GCG>GCA	p.A52A		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	52										skin(3)|ovary(1)	4						TCAGATAGTGCGCCATCGAGC	0.711000												
CNGA2	1260	broad.mit.edu	37	X	150912737	150912737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chrX:150912737G>A	uc004fey.1	+	7	1986	c.1762G>A	c.(1762-1764)GAA>AAA	p.E588K		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	588	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGAGAACGAAGTGGCAAC	0.547000												
SLC5A12	159963	broad.mit.edu	37	11	26705362	26705362	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr11:26705362delC	uc001mra.2	-	11	1563	c.1250delG	c.(1249-1251)GGAfs	p.G417fs	SLC5A12_uc001mrb.2_RNA	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	417	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						CATTGGTCCTCCACACATGCC	0.502												
MLXIPL	51085	broad.mit.edu	37	7	73011627	73011627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-A453-01A-11D-A24D-08	TCGA-BR-A453-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa5128d6-fb5b-4fcc-be45-ed5e899d3dab	15c0649f-0d32-4f4f-bc84-be3217c0e789	g.chr7:73011627delG	uc003tyn.1	-	9	1536	c.1488delC	c.(1486-1488)CCCfs	p.P496fs	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Frame_Shift_Del_p.P496fs|MLXIPL_uc003tyl.1_Frame_Shift_Del_p.P496fs|MLXIPL_uc003tym.1_Frame_Shift_Del_p.P496fs|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Frame_Shift_Del_p.P403fs|MLXIPL_uc003tyq.1_Frame_Shift_Del_p.P238fs	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	496					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGATGGGGCGGGGGGCTTGC	0.667