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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
VPS13D	55187	broad.mit.edu	37	1	12428620	12428620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:12428620C>T	uc001atv.2	+	53	10687	c.10546C>T	c.(10546-10548)CCT>TCT	p.P3516S	VPS13D_uc001atw.2_Missense_Mutation_p.P3491S|VPS13D_uc001atx.2_Missense_Mutation_p.P2703S|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3515					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTTACCTCCTCCTTTCCGAAT	0.463		NA											38	76					0	0	0	0
KIAA0467	23334	broad.mit.edu	37	1	43905594	43905594	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:43905594A>G	uc001cjk.1	+	36	4850	c.4388A>G	c.(4387-4389)AAG>AGG	p.K1463R		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2362						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGTGGGAAAAGGGGAACATT	0.577		NA											3	84					0	0	0	0
CKS1B	1163	broad.mit.edu	37	1	154947264	154947264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:154947264G>A	uc001fgb.2	+	1	147	c.43G>A	c.(43-45)GAG>AAG	p.E15K	SHC1_uc001ffx.2_5'Flank|SHC1_uc001ffy.2_5'Flank|CKS1B_uc001fga.2_RNA|hsa-mir-4258|MI0015857_5'Flank	NM_001826	NP_001817	P61024	CKS1_HUMAN	CDC28 protein kinase 1B	15					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATACGACGACGAGGAGTTTGA	0.547		NA											6	34					0	0	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659381	176659381	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:176659381G>T	uc001gkz.2	+	5	3410	c.2246G>T	c.(2245-2247)AGT>ATT	p.S749I	PAPPA2_uc001gky.1_Missense_Mutation_p.S749I|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	749	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						AAAGGAGTCAGTGAAAGAGAA	0.547		NA											19	147					5.04e-11	3.54e-10	1	0
MGMT	4255	broad.mit.edu	37	10	131565233	131565233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr10:131565233C>T	uc001lkh.2	+	5	715	c.689C>T	c.(688-690)TCG>TTG	p.S230L		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	199										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGAGCTACCTCGGGCTCCCCG	0.632		NA						Direct_reversal_of_damage					6	26					0	0	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431686	56431686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:56431686T>G	uc010rjm.1	+	1	525	c.525T>G	c.(523-525)AAT>AAG	p.N175K		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATATCATCAATCATTTCTTCT	0.483		NA											39	246					0	0	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798843	57798843	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:57798843T>G	uc010rjz.1	+	1	419	c.419T>G	c.(418-420)GTG>GGG	p.V140G	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)				GGGGCTTTTGTGTCCTGGGGC	0.507		NA											20	124					0	0	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348886	120348886	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:120348886C>G	uc001pxl.1	+	37	3561	c.3554C>G	c.(3553-3555)TCT>TGT	p.S1185C	ARHGEF12_uc009zat.2_Missense_Mutation_p.S1166C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S1082C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1185					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGATTAGAATCTACCTTAATA	0.383		NA	T	MLL	AML								8	42					0	0	0	0
GLS2	27165	broad.mit.edu	37	12	56866515	56866515	+	Silent	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:56866515C>G	uc001slj.2	-	15	1749	c.1470G>C	c.(1468-1470)CTG>CTC	p.L490L	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Silent_p.L225L|GLS2_uc009zot.2_Silent_p.L151L	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	490					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCAAATAACAGGTTGACCA	0.438		NA											3	84					0	0	0	0
TPH2	121278	broad.mit.edu	37	12	72335511	72335511	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:72335511C>G	uc009zrw.1	+	2	394	c.253C>G	c.(253-255)CAG>GAG	p.Q85E	TPH2_uc001swy.2_5'UTR	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	85	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GAGGCTCTTTCAGGTGAATGT	0.398		NA											13	76					0	0	0	0
APPL2	55198	broad.mit.edu	37	12	105589401	105589401	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:105589401T>C	uc001tlf.1	-	12	1275	c.1057A>G	c.(1057-1059)ATA>GTA	p.I353V	APPL2_uc010swt.1_Missense_Mutation_p.I310V|APPL2_uc001tlg.1_Missense_Mutation_p.I107V|APPL2_uc010swu.1_Missense_Mutation_p.I359V|APPL2_uc009zuq.2_Missense_Mutation_p.I310V	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	353	Required for RAB5A binding (By similarity).|PH.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						TGGAGGATTATTCCCCTGAAA	0.408		NA											15	59					0	0	0	0
TRPV4	59341	broad.mit.edu	37	12	110236702	110236702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:110236702G>A	uc001tpj.1	-	5	964	c.869C>T	c.(868-870)TCG>TTG	p.S290L	TRPV4_uc001tpg.1_Missense_Mutation_p.S256L|TRPV4_uc001tph.1_Missense_Mutation_p.S243L|TRPV4_uc001tpi.1_Missense_Mutation_p.S243L|TRPV4_uc001tpk.1_Missense_Mutation_p.S290L|TRPV4_uc001tpl.1_Missense_Mutation_p.S290L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	290	Cytoplasmic (Potential).|ANK 2.				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GGCAGCCAGCGACAGGGGCAG	0.677		NA											13	58					0	0	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582810	120582810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:120582810G>A	uc001txo.2	-	40	5085	c.5072C>T	c.(5071-5073)TCG>TTG	p.S1691L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1691					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCAAAGCACGACTCCCCCAT	0.592		NA											10	91					0	0	0	0
RSRC2	65117	broad.mit.edu	37	12	123001845	123001845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:123001845C>A	uc001ucr.2	-	5	677	c.531G>T	c.(529-531)AGG>AGT	p.R177S	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R118S|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R129S|RSRC2_uc001ucu.2_Missense_Mutation_p.R177S	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	177	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGGAACGAGACCTGATCCGCC	0.493		NA											23	123					3.6e-14	2.59e-13	1	0
OR4M1	441670	broad.mit.edu	37	14	20248681	20248681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:20248681C>T	uc010tku.1	+	1	200	c.200C>T	c.(199-201)GCC>GTC	p.A67V		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTAATCTGGCCCTCCTTGAT	0.418		NA											9	718					0	0	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746122	23746122	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:23746122G>A	uc001wja.2	-	2	463	c.315C>T	c.(313-315)GCC>GCT	p.A105A	HOMEZ_uc001wjb.2_Silent_p.A107A	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	105	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGAGGCGCTGGGCCATAAACC	0.502		NA											33	201					0	0	0	0
MUDENG	55745	broad.mit.edu	37	14	57747048	57747048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:57747048G>A	uc001xcv.2	+	3	1283	c.856G>A	c.(856-858)GAT>AAT	p.D286N	MUDENG_uc010tri.1_Missense_Mutation_p.D40N|MUDENG_uc010trj.1_Missense_Mutation_p.D183N	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	286	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						TAGTAGTATTGATGCAATGGA	0.423		NA											56	127					0	0	0	0
KIAA0586	9786	broad.mit.edu	37	14	58917303	58917303	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:58917303T>C	uc001xdv.3	+	8	1241	c.968T>C	c.(967-969)TTA>TCA	p.L323S	KIAA0586_uc010trr.1_Missense_Mutation_p.L364S|KIAA0586_uc001xdt.3_Missense_Mutation_p.L279S|KIAA0586_uc001xdu.3_Missense_Mutation_p.L308S|KIAA0586_uc010trs.1_Missense_Mutation_p.L238S|KIAA0586_uc010trt.1_Missense_Mutation_p.L183S|KIAA0586_uc010tru.1_Missense_Mutation_p.L183S	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	323										ovary(1)	1						AAAGCACCTTTAAAAGAAGTT	0.308		NA											11	38					0	0	0	0
C14orf49	161176	broad.mit.edu	37	14	95921755	95921755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:95921755C>T	uc001yei.3	-	5	1111	c.1096G>A	c.(1096-1098)GGG>AGG	p.G366R	C14orf49_uc010avi.2_Missense_Mutation_p.G366R|C14orf49_uc001yej.1_Missense_Mutation_p.G366R	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	366	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TCCTCGGTCCCCGCTTTCGCC	0.652		NA											17	55					0	0	0	0
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr15:43820775C>T	uc001zrt.2	+	4	7571	c.7104C>T	c.(7102-7104)AAC>AAT	p.N2368N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642		NA											7	29					0	0	0	0
TEX9	374618	broad.mit.edu	37	15	56719929	56719929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr15:56719929A>G	uc002adp.2	+	11	1095	c.1090A>G	c.(1090-1092)AGG>GGG	p.R364G	TEX9_uc010ugl.1_Missense_Mutation_p.R289G	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	testis expressed 9	364											0				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGTTTTAAAAAGGCAAAAGGT	0.244		NA											3	165					0	0	0	0
PKD1	5310	broad.mit.edu	37	16	2158447	2158447	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:2158447G>C	uc002cos.1	-	15	6930	c.6721C>G	c.(6721-6723)CTG>GTG	p.L2241V	PKD1_uc002cot.1_Missense_Mutation_p.L2241V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2241	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CTCTGTGTCAGTGGCGTGTCC	0.652		NA											13	61					0	0	0	0
MMP15	4324	broad.mit.edu	37	16	58074525	58074525	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:58074525C>T	uc002ena.2	+	5	1806	c.833C>T	c.(832-834)GCG>GTG	p.A278V		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	278	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						GCCATCATGGCGCCGTTCTAC	0.612		NA											33	72					0	0	0	0
SF3B3	23450	broad.mit.edu	37	16	70597896	70597896	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:70597896G>A	uc002ezf.2	+	18	2617	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	802					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				TCATTGAAACGGACCACAATG	0.463		NA											14	89					0	0	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698642	70698642	+	Missense_Mutation	SNP	C	C	T	rs149700961		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:70698642C>T	uc002ezj.2	-	14	1590	c.1330G>A	c.(1330-1332)GCC>ACC	p.A444T		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	444					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						AGGTCACTGGCGGCGGGGGAC	0.672		NA											7	19					0	0	0	0
KCNG4	93107	broad.mit.edu	37	16	84270386	84270386	+	Missense_Mutation	SNP	C	C	T	rs138891680	byFrequency	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:84270386C>T	uc010voc.1	-	2	827	c.706G>A	c.(706-708)GTC>ATC	p.V236I	KCNG4_uc002fhu.1_Missense_Mutation_p.V236I	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	236						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CACAGGCTGACGGCTGTGGTG	0.602		NA											19	21					0	0	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318845	21318845	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:21318845C>T	uc002gyv.1	+	3	896	c.191C>T	c.(190-192)TCA>TTA	p.S64L		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	64	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GACGAGAAGTCACAGCGCTAC	0.592		NA								Prostate(3;0.18)			5	66					0	0	0	0
DDX52	11056	broad.mit.edu	37	17	35981216	35981216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:35981216T>C	uc002hoi.1	-	11	1495	c.1457A>G	c.(1456-1458)AAC>AGC	p.N486S	DDX52_uc002hoh.1_Missense_Mutation_p.N378S	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	486	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				AAAGTCATAGTTGATCACCAA	0.433		NA											17	26					0	0	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847683	40847683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:40847683C>T	uc002iay.2	+	19	3353	c.3137C>T	c.(3136-3138)CCG>CTG	p.P1046L	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	1046	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TATGATACTCCGGGCTATGTG	0.657		NA											15	56					0	0	0	0
C17orf71	55181	broad.mit.edu	37	17	57287434	57287434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:57287434C>T	uc002ixi.2	+	1	64	c.22C>T	c.(22-24)CGA>TGA	p.R8*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	8					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CGTGAGCTTGCGAGACCTTCT	0.597		NA											9	13					0	0	0	0
PTPRM	5797	broad.mit.edu	37	18	8379226	8379226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:8379226G>A	uc002knn.3	+	26	4138	c.3635G>A	c.(3634-3636)CGG>CAG	p.R1212Q	PTPRM_uc010dkv.2_Missense_Mutation_p.R1225Q|PTPRM_uc010wzl.1_Missense_Mutation_p.R999Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1212	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CTGTTGCCCCGGAACCATGAG	0.547		NA											18	102					0	0	0	0
KIAA1632	57724	broad.mit.edu	37	18	43467768	43467768	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:43467768C>T	uc002lbm.2	-	29	5157	c.5057G>A	c.(5056-5058)CGT>CAT	p.R1686H	KIAA1632_uc010xcq.1_Missense_Mutation_p.R240H|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R561H	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1686					autophagy						0						TGGGGGATGACGCTGCGTCTC	0.448		NA											16	79					0	0	0	0
ELAC1	55520	broad.mit.edu	37	18	48500811	48500811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:48500811G>A	uc002lez.2	+	2	143	c.37G>A	c.(37-39)GCA>ACA	p.A13T	ELAC1_uc010dpe.2_Missense_Mutation_p.A13T|SMAD4_uc010xdo.1_RNA	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	elaC homolog 1	13					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GACGGGTGCAGCATACCCATC	0.507		NA											9	50					0	0	0	0
ATP5D	513	broad.mit.edu	37	19	1244103	1244103	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:1244103C>T	uc002lrn.2	+	3	404	c.303C>T	c.(301-303)AGC>AGT	p.S101S	ATP5D_uc002lro.2_Silent_p.S101S	NM_001001975	NP_001001975	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	101					mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain|response to copper ion	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGTGAGCAGCGGTTCCATCG	0.647		NA									OREG0025113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2234193	2234193	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:2234193G>A	uc002lvf.1	-	4	357	c.276C>T	c.(274-276)AGC>AGT	p.S92S	MIR1227_hsa-mir-1227|MI0006316_5'Flank|SF3A2_uc002lvg.2_5'Flank	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J	92	PH.						protein binding				0				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)		ACTGCTCCTCGCTGCTGCACT	0.632		NA											13	60					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9088852	9088852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:9088852G>T	uc002mkp.2	-	1	3167	c.2963C>A	c.(2962-2964)TCT>TAT	p.S988Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	988	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGAAGTGGCAGAGGTTGAAAC	0.463		NA											55	241					1.19e-26	8.62e-26	1	0
CACNA1A	773	broad.mit.edu	37	19	13395974	13395974	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:13395974C>T	uc010dze.2	-	21	3839	c.3603G>A	c.(3601-3603)GAG>GAA	p.E1201E	CACNA1A_uc010dzc.2_Silent_p.E726E|CACNA1A_uc002mwy.3_Silent_p.E1200E|CACNA1A_uc010xne.1_Silent_p.E729E	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1201	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	cctccttcttctcttcctctt	0.443		NA											28	43					0	0	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729231	18729231	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:18729231T>C	uc002njy.3	+	7	916	c.829T>C	c.(829-831)TCC>CCC	p.S277P		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	277	Helical; (Potential).					Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						CCTCTTCCTCTCCGTGCTGGT	0.697		NA											3	26					0	0	0	0
ZNF14	7561	broad.mit.edu	37	19	19823301	19823301	+	Silent	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:19823301G>T	uc002nnk.1	-	4	943	c.789C>A	c.(787-789)CCC>CCA	p.P263P		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	263	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				GAAAGTATGTGGGACAACTGA	0.388		NA											5	67					0.00116845	0.00770497	1	0
RYR1	6261	broad.mit.edu	37	19	38980889	38980889	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:38980889C>T	uc002oit.2	+	36	6118	c.5988C>T	c.(5986-5988)CGC>CGT	p.R1996R	RYR1_uc002oiu.2_Silent_p.R1996R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1996	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GACGTACCCGCGAGTTCCGCT	0.572		NA											14	29					0	0	0	0
PSG8	440533	broad.mit.edu	37	19	43258661	43258661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:43258661G>A	uc002ouo.2	-	5	1165	c.1067C>T	c.(1066-1068)GCG>GTG	p.A356V	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.A195V|PSG8_uc002ouh.2_Missense_Mutation_p.A356V|PSG8_uc010ein.2_Missense_Mutation_p.A234V|PSG8_uc002ouj.3_Missense_Mutation_p.A138V|PSG8_uc002ouk.3_Missense_Mutation_p.A195V|PSG8_uc002oul.3_Missense_Mutation_p.A356V|PSG8_uc002oum.3_Missense_Mutation_p.A263V|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.A263V	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	356	Ig-like C2-type 3.					extracellular region					0		Prostate(69;0.00899)				GTTAGAGTCCGCAGAACAGGA	0.453		NA											53	237					0	0	0	0
BAX	581	broad.mit.edu	37	19	49458947	49458947	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:49458947C>T	uc002plk.2	+	3	159	c.90C>T	c.(88-90)TTC>TTT	p.F30F	BAX_uc002plf.1_Silent_p.F30F|BAX_uc002plg.1_5'UTR|BAX_uc002plh.1_Intron|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Silent_p.F30F|BAX_uc002pll.2_Intron|BAX_uc002plm.2_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	BCL2-associated X protein isoform alpha	30					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ACTCTAGTTTCATCCAGGATC	0.582		NA											11	75					0	0	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49962338	49962338	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:49962338G>A	uc002pnt.2	+	3	431	c.315G>A	c.(313-315)CTG>CTA	p.L105L	ALDH16A1_uc010yar.1_Silent_p.L105L|ALDH16A1_uc010yas.1_Intron|ALDH16A1_uc010yat.1_Intron	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	105							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCAGCACCTGACCAGGTGAT	0.642		NA											14	94					0	0	0	0
ZNF610	162963	broad.mit.edu	37	19	52869877	52869877	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:52869877A>T	uc002pyx.3	+	6	1652	c.1246A>T	c.(1246-1248)ACC>TCC	p.T416S	ZNF610_uc002pyy.3_Missense_Mutation_p.T416S|ZNF610_uc002pyz.3_Missense_Mutation_p.T373S|ZNF610_uc002pza.2_Missense_Mutation_p.T416S	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	416	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTATACCTAACCAACCATCA	0.423		NA											11	53					0	0	0	0
CACNG7	59284	broad.mit.edu	37	19	54416119	54416119	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:54416119C>T	uc002qcr.1	+	1	49	c.34C>T	c.(34-36)CTG>TTG	p.L12L	CACNG7_uc010era.1_Silent_p.L12L	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	12	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTGACCCTGCTGAGCAGCGT	0.632		NA											7	41					0	0	0	0
NLRP11	204801	broad.mit.edu	37	19	56300195	56300195	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:56300195C>G	uc010ygf.1	-	11	3544	c.2833G>C	c.(2833-2835)GAT>CAT	p.D945H	NLRP11_uc002qlz.2_Missense_Mutation_p.D792H|NLRP11_uc002qmb.2_Missense_Mutation_p.D846H|NLRP11_uc002qmc.2_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	945							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTACACAATCTGGGCTGATC	0.318		NA											11	50					0	0	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393		NA											4	13					0.000602214	0.0039904	1	0
ZNF329	79673	broad.mit.edu	37	19	58639337	58639337	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:58639337G>A	uc002qrn.2	-	4	1771	c.1534C>T	c.(1534-1536)CGG>TGG	p.R512W	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	512	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAGGACACCGGCTGGGACCC	0.507		NA											63	106					0	0	0	0
SOX11	6664	broad.mit.edu	37	2	5833121	5833121	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:5833121C>T	uc002qyj.2	+	1	323	c.268C>T	c.(268-270)CTG>TTG	p.L90L		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	90	HMG box.				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTGGAAAATGCTGAAGGACAG	0.587		NA											15	48					0	0	0	0
ZNF512	84450	broad.mit.edu	37	2	27830785	27830785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:27830785G>A	uc002rla.2	+	10	1097	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q	ZNF512_uc010ylv.1_Missense_Mutation_p.R258Q|ZNF512_uc010ylw.1_Missense_Mutation_p.R308Q|ZNF512_uc002rlb.2_Missense_Mutation_p.R258Q|ZNF512_uc010ylx.1_Missense_Mutation_p.R258Q|ZNF512_uc002rlc.2_Missense_Mutation_p.R258Q|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.R230Q	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					AGTGGGGGCCGAGTTCAGAGA	0.512		NA											12	49					0	0	0	0
CCDC88A	55704	broad.mit.edu	37	2	55571557	55571557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:55571557C>T	uc002ryv.2	-	11	1977	c.1135G>A	c.(1135-1137)GAA>AAA	p.E379K	CCDC88A_uc010yoz.1_Missense_Mutation_p.E379K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E379K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E281K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	379	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTTTCTAATTCATGTAATTTA	0.318		NA											8	58					0	0	0	0
OBSL1	23363	broad.mit.edu	37	2	220432935	220432935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:220432935C>T	uc010fwk.2	-	2	1181	c.1124G>A	c.(1123-1125)CGT>CAT	p.R375H	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R375H|OBSL1_uc002vmj.2_Translation_Start_Site	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	375	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGTCCTCACGGAACCAGGC	0.637		NA									OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	31					0	0	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551696	1551696	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:1551696C>T	uc010gai.2	-	4	938	c.839G>A	c.(838-840)CGG>CAG	p.R280Q	SIRPB1_uc002wfk.3_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	280	Ig-like C1-type 2.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						CTGTAGTCCCCGGGGGTAGAA	0.537		NA											38	68					0	0	0	0
PAX1	5075	broad.mit.edu	37	20	21687285	21687285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:21687285G>A	uc002wsj.2	+	2	550	c.496G>A	c.(496-498)GGG>AGG	p.G166R	PAX1_uc010zsl.1_Missense_Mutation_p.G166R|PAX1_uc010zsm.1_Missense_Mutation_p.G142R	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	166	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CGGGGCCATCGGGGGGAGCAA	0.647		NA											18	89					0	0	0	0
C20orf4	25980	broad.mit.edu	37	20	34827959	34827959	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:34827959T>G	uc002xfc.1	+	2	262	c.169T>G	c.(169-171)TTC>GTC	p.F57V	C20orf4_uc002xfd.1_Missense_Mutation_p.F57V|C20orf4_uc002xfe.1_Missense_Mutation_p.F57V	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	57											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AGGCATCCACTTCCTCCACTA	0.572		NA											7	81					0	0	0	0
NCAM2	4685	broad.mit.edu	37	21	22804480	22804480	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr21:22804480G>A	uc002yld.1	+	12	1782	c.1533G>A	c.(1531-1533)ACG>ACA	p.T511T	NCAM2_uc011acb.1_Silent_p.T369T	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	511	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CGCAGACCACGGCCAAGGTTT	0.448		NA											6	48					0	0	0	0
HPS4	89781	broad.mit.edu	37	22	26849348	26849348	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr22:26849348C>T	uc003acl.2	-	14	2637	c.1978G>A	c.(1978-1980)GCC>ACC	p.A660T	HPS4_uc003aci.2_Missense_Mutation_p.A655T|HPS4_uc003acj.2_Missense_Mutation_p.A524T|HPS4_uc003ack.2_Missense_Mutation_p.A451T|HPS4_uc003acn.2_Missense_Mutation_p.A506T|HPS4_uc003ach.2_Missense_Mutation_p.A395T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	660					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						TTGCAACAGGCGTACACAGCC	0.562		NA							Hermansky-Pudlak_syndrome				16	105					0	0	0	0
SLC6A6	6533	broad.mit.edu	37	3	14499524	14499524	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:14499524C>T	uc010heg.2	+	13	957	c.666C>T	c.(664-666)CTC>CTT	p.L222L	SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Silent_p.L222L|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	222	Helical; Name=4; (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						ACCTCGCTCTCTGCCTTCTTT	0.547		NA											25	101					0	0	0	0
IL17RB	55540	broad.mit.edu	37	3	53883814	53883814	+	Missense_Mutation	SNP	G	G	A	rs145364776	by1000genomes	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:53883814G>A	uc003dha.2	+	3	257	c.218G>A	c.(217-219)CGG>CAG	p.R73Q		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	73	Extracellular (Potential).				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGGGTACTCCGGGCAGATGGT	0.333		NA											44	70					0	0	0	0
OR5H15	403274	broad.mit.edu	37	3	97887689	97887689	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:97887689T>C	uc011bgu.1	+	1	146	c.146T>C	c.(145-147)ATC>ACC	p.I49T		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	49	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATTGCTGTCATCTGGAAAGAC	0.423		NA											87	146					0	0	0	0
UCHL1	7345	broad.mit.edu	37	4	41265298	41265298	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:41265298C>T	uc003gvo.2	+	7	612	c.516C>T	c.(514-516)CTC>CTT	p.L172L	UCHL1_uc003gvp.2_Silent_p.L91L|UCHL1_uc003gvq.2_Silent_p.L91L|UCHL1_uc003gvr.2_Silent_p.L91L|UCHL1_uc003gvs.2_Silent_p.L91L	NM_004181	NP_004172	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1	172					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|skin(1)	2						ATGGCCACCTCTATGAACTTG	0.343		NA											12	90					0	0	0	0
C4orf31	79625	broad.mit.edu	37	4	121958733	121958733	+	Silent	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:121958733A>G	uc003idq.1	-	4	920	c.393T>C	c.(391-393)AAT>AAC	p.N131N		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	131											0						ACTCAACATCATTGCCTTTGT	0.403		NA											15	63					0	0	0	0
PCDH10	57575	broad.mit.edu	37	4	134072411	134072411	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:134072411G>A	uc003iha.2	+	1	1942	c.1116G>A	c.(1114-1116)GCG>GCA	p.A372A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A372A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	372	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGGCGCGGCGCCCGGCACTG	0.617		NA											13	95					0	0	0	0
CCRN4L	25819	broad.mit.edu	37	4	139965866	139965866	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:139965866C>T	uc003ihl.2	+	3	727	c.534C>T	c.(532-534)CTC>CTT	p.L178L		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	178					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					GGAAATGTCTCATCCTGGAAG	0.463		NA											21	74					0	0	0	0
NR3C2	4306	broad.mit.edu	37	4	149356634	149356634	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:149356634A>T	uc003ilj.3	-	2	1713	c.1379T>A	c.(1378-1380)TTT>TAT	p.F460Y	NR3C2_uc003ilk.3_Missense_Mutation_p.F460Y|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	460	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATCATCCATAAAGGAAAAATA	0.418		NA											10	52					0	0	0	0
TRIML2	205860	broad.mit.edu	37	4	189012783	189012783	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:189012783C>A	uc003izl.2	-	7	944	c.908G>T	c.(907-909)TGG>TTG	p.W303L	TRIML2_uc003izj.1_Missense_Mutation_p.W131L|TRIML2_uc003izk.1_Missense_Mutation_p.W111L|TRIML2_uc011cle.1_Missense_Mutation_p.W378L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	303	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGGGAAGACCCAGAGAGTCCA	0.552		NA											35	124					8.42e-14	6.02e-13	1	0
RASA1	5921	broad.mit.edu	37	5	86674234	86674234	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr5:86674234G>T	uc003kiw.2	+	18	2484	c.2366G>T	c.(2365-2367)CGA>CTA	p.R789L	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R612L|RASA1_uc011ctv.1_Missense_Mutation_p.R622L|RASA1_uc011ctw.1_Missense_Mutation_p.R623L|RASA1_uc010jaw.2_Missense_Mutation_p.R611L	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	789	Ras-GAP.			R -> A (in Ref. 4; AA sequence).	cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACCCTATTTCGAGCCACAACA	0.353		NA											16	25					1.68e-08	1.15e-07	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182317	140182317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr5:140182317C>T	uc003lhf.2	+	1	1535	c.1535C>T	c.(1534-1536)GCG>GTG	p.A512V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A512V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	512	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTACACGCGGAGAGCGGC	0.706		NA											7	124					0	0	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114379	27114379	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:27114379C>T	uc003nix.1	-	1	241	c.199G>A	c.(199-201)GTC>ATC	p.V67I	HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	67					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						ATGTCGTTGACGAAGGAGTTC	0.592		NA											18	254					0	0	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44221057	44221058	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:44221057_44221058CC>AA	uc003oxa.1	+	11	2091_2092	c.2007_2008CC>AA	c.(2005-2010)TCCCTT>TCAATT	p.L670I	HSP90AB1_uc011dvr.1_Missense_Mutation_p.L660I|HSP90AB1_uc003oxb.1_Missense_Mutation_p.L670I|HSP90AB1_uc011dvs.1_Missense_Mutation_p.L490I|HSP90AB1_uc003oxc.1_Missense_Mutation_p.L308I	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	670					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGCTTTTCCCTTGAGGATCC	0.525		NA											10	608					0	0	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092672	143092672	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:143092672C>T	uc003qjd.2	-	5	3947	c.3204G>A	c.(3202-3204)ACG>ACA	p.T1068T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACGGTGATACCGTGGAGGCTG	0.557		NA											9	35					0	0	0	0
UTRN	7402	broad.mit.edu	37	6	144769778	144769778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:144769778C>T	uc003qkt.2	+	16	2037	c.1945C>T	c.(1945-1947)CAG>TAG	p.Q649*	UTRN_uc010khq.1_Nonsense_Mutation_p.Q649*	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	649	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAGATTCCTCAGAAGGACCT	0.378		NA											10	78					0	0	0	0
STYXL1	51657	broad.mit.edu	37	7	75634686	75634686	+	Missense_Mutation	SNP	C	C	T	rs147059565		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:75634686C>T	uc003uej.3	-	6	663	c.490G>A	c.(490-492)GTG>ATG	p.V164M	STYXL1_uc003uef.2_Translation_Start_Site|STYXL1_uc011kgf.1_Missense_Mutation_p.V26M|STYXL1_uc011kgg.1_Missense_Mutation_p.V16M|STYXL1_uc003ueh.2_Missense_Mutation_p.V26M|STYXL1_uc003uek.3_Missense_Mutation_p.V68M|STYXL1_uc003uel.2_Missense_Mutation_p.V164M|STYXL1_uc003uem.2_Missense_Mutation_p.V164M|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.V164M|STYXL1_uc003uen.1_Missense_Mutation_p.V164M	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	164	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						TTCCCTGGCACGATTTCAATG	0.478		NA											19	49					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82584839	82584839	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:82584839G>T	uc003uhx.2	-	5	5719	c.5430C>A	c.(5428-5430)GAC>GAA	p.D1810E	PCLO_uc003uhv.2_Missense_Mutation_p.D1810E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1741					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTTCATCTTTGTCTTTCTTTG	0.393		NA											32	145					5.6e-13	3.98e-12	1	0
DPP6	1804	broad.mit.edu	37	7	154681011	154681011	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:154681011G>A	uc003wlk.2	+	24	2463	c.2334G>A	c.(2332-2334)GCG>GCA	p.A778A	DPP6_uc003wli.2_Silent_p.A714A|DPP6_uc003wlm.2_Silent_p.A716A|DPP6_uc011kvq.1_Silent_p.A671A	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	778	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGTCTCCGCGCTGGAAGAAC	0.537		NA											5	17					0	0	0	0
IKBKB	3551	broad.mit.edu	37	8	42175203	42175203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr8:42175203A>T	uc003xow.1	+	12	1331	c.1154A>T	c.(1153-1155)GAT>GTT	p.D385V	IKBKB_uc010lxh.1_Missense_Mutation_p.D280V|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.D162V|IKBKB_uc003xox.1_Missense_Mutation_p.D106V|IKBKB_uc011lcp.1_Intron|IKBKB_uc011lcq.1_Missense_Mutation_p.D383V|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.D326V	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	385					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TTGGACATGGATCTTGTTTTT	0.413		NA											13	49					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr9:21971186G>A	uc003zpk.2	-	2	384	c.172C>T	c.(172-174)CGA>TGA	p.R58*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	58	ANK 2.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	7					0	0	0	0
NOX1	27035	broad.mit.edu	37	X	100099014	100099014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:100099014C>T	uc004egj.2	-	13	1828	c.1622G>A	c.(1621-1623)CGC>CAC	p.R541H	NOX1_uc004egl.3_Missense_Mutation_p.R492H|NOX1_uc010nne.2_Missense_Mutation_p.R504H	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	541	Cytoplasmic (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						ACAGCATTTGCGCAGGCTCTT	0.428		NA											5	18					0	0	0	0
GPR112	139378	broad.mit.edu	37	X	135487937	135487937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:135487937G>A	uc004ezu.1	+	23	9032	c.8741G>A	c.(8740-8742)TGC>TAC	p.C2914Y	GPR112_uc010nsb.1_Missense_Mutation_p.C2709Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2914	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TCCATGTTCTGCACTGTTCTT	0.398		NA											24	65					0	0	0	0
SIRT1	23411	broad.mit.edu	37	10	69644867	69644869	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr10:69644867_69644869delGAG	uc001jnd.2	+	1	441_443	c.388_390delGAG	c.(388-390)GAGdel	p.E134del	SIRT1_uc010qis.1_5'Flank|SIRT1_uc009xpp.2_5'Flank	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	134	Interaction with HIST1H1E.|Poly-Glu.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						cgacgagggcgaggaggaggaag	0.507		NA											2	4	---	---	---	---	NA	NA	NA	NA
OR8J3	81168	broad.mit.edu	37	11	55904668	55904671	+	Frame_Shift_Del	DEL	TGAT	TGAT	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:55904668_55904671delTGAT	uc010riz.1	-	1	524_527	c.524_527delATCA	c.(523-528)AATCATfs	p.N175fs		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	175_176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					ACAGTAAAAATGATTGATTATATT	0.358		NA											11	106	---	---	---	---	NA	NA	NA	NA
EEA1	8411	broad.mit.edu	37	12	93205154	93205158	+	Frame_Shift_Del	DEL	CTTGT	CTTGT	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:93205154_93205158delCTTGT	uc001tck.2	-	17	2361_2365	c.2096_2100delACAAG	c.(2095-2100)GACAAGfs	p.D699fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	699_700	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						AATGTTCTTGCTTGTCTTGTAACTT	0.337		NA											7	38	---	---	---	---	NA	NA	NA	NA
TM9SF2	9375	broad.mit.edu	37	13	100206567	100206570	+	Frame_Shift_Del	DEL	CACC	CACC	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr13:100206567_100206570delCACC	uc001voj.1	+	14	1631_1634	c.1498_1501delCACC	c.(1498-1503)CACCCAfs	p.H500fs	TM9SF2_uc010afz.1_Frame_Shift_Del_p.H335fs	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	500_501	Cytoplasmic (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCCATTGAACACCCAGTTCGAAC	0.417		NA											23	94	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578446	7578466	+	In_Frame_Del	DEL	TGGCCATGGCGCGGACGCGGG	TGGCCATGGCGCGGACGCGGG	-	rs139200646		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGG	uc002gim.2	-	5	658_678	c.464_484delCCCGCGTCCGCGCCATGGCCA	c.(463-486)ACCCGCGTCCGCGCCATGGCCATC>ATC	p.TRVRAMA155del	TP53_uc002gig.1_In_Frame_Del_p.TRVRAMA155del|TP53_uc002gih.2_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc010cng.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc002gii.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc010cnh.1_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cni.1_In_Frame_Del_p.TRVRAMA155del|TP53_uc002gij.2_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.TRVRAMA62del|TP53_uc002gio.2_In_Frame_Del_p.TRVRAMA23del|TP53_uc010vug.1_In_Frame_Del_p.TRVRAMA116del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	155_161	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(139)|p.R158H(58)|p.R158L(55)|p.A161T(44)|p.A159V(30)|p.R156P(24)|p.T155N(19)|p.R158C(17)|p.T155P(14)|p.A159P(13)|p.V157I(10)|p.R156H(10)|p.T155I(10)|p.R158G(10)|p.R158P(9)|p.I162F(8)|p.V157D(8)|p.A159A(8)|p.A161D(8)|p.R156fs*14(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.A161V(7)|p.T155A(7)|p.0?(7)|p.V157L(6)|p.M160I(6)|p.R158R(6)|p.V157V(5)|p.A159fs*11(5)|p.I162V(5)|p.R158fs*12(5)|p.A161A(5)|p.T155T(5)|p.A159S(4)|p.R158_A159insX(4)|p.M160K(4)|p.M160V(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.M160fs*10(3)|p.A161fs*9(3)|p.R156L(3)|p.M160L(3)|p.P152fs*14(3)|p.V157fs*13(3)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.R156C(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.R158_A159delRA(2)|p.I162fs*19(2)|p.P153fs*22(2)|p.T155S(2)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.M160_A161>IS(1)|p.V157_R158delVR(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.A161F(1)|p.A161G(1)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.M160T(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.D148_T155delDSTPPPGT(1)|p.A161fs*20(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.V157_M160delVRAM(1)|p.A161fs*7(1)|p.T155fs*15(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.T155fs*26(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.A161fs*10(1)|p.I162_Y163delIY(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.I162fs*8(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGG	0.62		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	45	---	---	---	---	NA	NA	NA	NA
PRR12	57479	broad.mit.edu	37	19	50100303	50100305	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:50100303_50100305delCGG	uc002poo.3	+	4	2711_2713	c.2711_2713delCGG	c.(2710-2715)TCGGAG>TAG	p.904_905SE>*		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	83_84	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCACCAAACTCGGAGGGCAAGGA	0.69		NA											3	4	---	---	---	---	NA	NA	NA	NA
TKTL1	8277	broad.mit.edu	37	X	153524304	153524305	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:153524304_153524305insGC	uc004fkg.2	+	1	278_279	c.92_93insGC	c.(91-93)TTGfs	p.L31fs	TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Frame_Shift_Ins_p.L31fs|TKTL1_uc011mzm.1_Frame_Shift_Ins_p.L31fs	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	31					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCAGCCGCTTGCGAATCCATT	0.614		NA											30	129	---	---	---	---	NA	NA	NA	NA
