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
MASP2	10747	broad.mit.edu	37	1	11087433	11087433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:11087433T>C	uc001aru.2	-	11	1591	c.1570A>G	c.(1570-1572)ACT>GCT	p.T524A		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	524	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCATCATGAGTATAACCTTCA	0.398		NA											15	154					0	0	0	0
PTCHD2	57540	broad.mit.edu	37	1	11580836	11580836	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:11580836A>G	uc001ash.3	+	10	2431	c.2293A>G	c.(2293-2295)AAC>GAC	p.N765D	PTCHD2_uc001asi.1_Missense_Mutation_p.N765D	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	765	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCTGATACCAACATCCAGGT	0.642		NA											3	20					0	0	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs143004725	by1000genomes	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:12885059C>G	uc001auk.2	-	4	1248	c.1052G>C	c.(1051-1053)TGC>TCC	p.C351S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	351	LRR 6.										0						GGTGGCCATGCAGATGGGATT	0.532		NA											5	213					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27100152	27100152	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:27100152G>A	uc001bmv.1	+	16	4321	c.3948G>A	c.(3946-3948)TCG>TCA	p.S1316S	ARID1A_uc001bmt.1_Silent_p.S1315S|ARID1A_uc001bmu.1_Silent_p.S1316S|ARID1A_uc001bmw.1_Silent_p.S933S|ARID1A_uc001bmx.1_Silent_p.S162S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1316					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	p.M1318fs*163(1)		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)		ACCCAGACTCGGGGATGTATT	0.507		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								11	52					0	0	0	0
CSF3R	1441	broad.mit.edu	37	1	36937036	36937036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:36937036C>T	uc001caw.1	-	10	1461	c.1283G>A	c.(1282-1284)AGA>AAA	p.R428K	CSF3R_uc001cat.1_5'Flank|CSF3R_uc009vvc.1_5'UTR|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.R428K|CSF3R_uc001cax.1_Missense_Mutation_p.R428K|CSF3R_uc001cay.1_Missense_Mutation_p.R428K	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	428	Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCTTTACCTCTGCTTTCTGA	0.368		NA											15	146					0	0	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86173364	86173364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:86173364C>T	uc001dlh.2	-	1	738	c.604G>A	c.(604-606)GAG>AAG	p.E202K	ZNHIT6_uc010osc.1_Missense_Mutation_p.E163K	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6	202	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						ATCGGAGGCTCTTCTTTCACC	0.463		NA											8	153					0	0	0	0
RPRD2	23248	broad.mit.edu	37	1	150416840	150416840	+	Silent	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr1:150416840C>G	uc009wlr.2	+	6	882	c.681C>G	c.(679-681)CTC>CTG	p.L227L	RPRD2_uc010pcc.1_Silent_p.L201L|RPRD2_uc001eup.3_Silent_p.L201L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	227							protein binding			ovary(1)	1						CAGAAACTCTCAAATGCTTAA	0.383		NA											3	60					0	0	0	0
IDI1	3422	broad.mit.edu	37	10	1087328	1087328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:1087328C>G	uc001iga.2	-	5	772	c.654G>C	c.(652-654)TTG>TTC	p.L218F	C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Missense_Mutation_p.L162F|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Missense_Mutation_p.L162F	NM_004508	NP_004499	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase	161	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GATCTGGATTCAAAGTTACAT	0.343		NA											20	50					0	0	0	0
C10orf71	118461	broad.mit.edu	37	10	50531131	50531131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:50531131G>C	uc010qgp.1	+	3	880	c.541G>C	c.(541-543)GAA>CAA	p.E181Q		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	181											0						TCCTCTTCCAGAAAACAGTGT	0.532		NA											11	28					0	0	0	0
PTEN	5728	broad.mit.edu	37	10	89692805	89692805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr10:89692805C>T	uc001kfb.2	+	6	1320	c.289C>T	c.(289-291)CAG>TAG	p.Q97*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	97	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAACCCACCACAGCTAGAACT	0.363		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	64					0	0	0	0
APOA5	116519	broad.mit.edu	37	11	116661095	116661095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:116661095G>A	uc001ppr.2	-	3	858	c.850C>T	c.(850-852)CGA>TGA	p.R284*	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Nonsense_Mutation_p.R284*|APOA5_uc009yzf.2_Nonsense_Mutation_p.R284*|APOA5_uc009yzg.2_Nonsense_Mutation_p.R310*	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	284					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GCCTGAAGTCGCTGGCGCACC	0.662		NA											8	61					0	0	0	0
MLL	4297	broad.mit.edu	37	11	118375875	118375875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:118375875C>T	uc001pta.2	+	27	9282	c.9259C>T	c.(9259-9261)CCA>TCA	p.P3087S	MLL_uc001ptb.2_Missense_Mutation_p.P3090S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3087					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAACATGCAGCCACTTTATGT	0.468		NA	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								17	137					0	0	0	0
NCAPD3	23310	broad.mit.edu	37	11	134038398	134038398	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr11:134038398G>A	uc001qhd.1	-	26	3945	c.3339C>T	c.(3337-3339)TTC>TTT	p.F1113F	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.F63F	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1113					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAGTGATGTTGAATCGCTGTT	0.403		NA											5	59					0	0	0	0
AVPR1A	552	broad.mit.edu	37	12	63541189	63541189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr12:63541189C>T	uc001sro.1	-	2	3181	c.1207G>A	c.(1207-1209)GAC>AAC	p.D403N		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	403	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTAGGCGAGTCCTTCCACATA	0.383		NA											7	104					0	0	0	0
SETD8	387893	broad.mit.edu	37	12	123875278	123875278	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr12:123875278T>G	uc001uew.2	+	3	276	c.234T>G	c.(232-234)CAT>CAG	p.H78Q	SETD8_uc001uex.2_Missense_Mutation_p.H13Q	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CAGTTACACATCACGAAGTCA	0.478		NA											4	48					0	0	0	0
ATP11A	23250	broad.mit.edu	37	13	113479843	113479843	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr13:113479843G>A	uc001vsi.3	+	11	1060	c.972G>A	c.(970-972)CGG>CGA	p.R324R	ATP11A_uc001vsj.3_Silent_p.R324R|ATP11A_uc001vsm.1_Silent_p.R200R	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	324	Extracellular (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCCCTTTCGGGATGAGCCGT	0.488		NA											11	43					0	0	0	0
FOXG1	2290	broad.mit.edu	37	14	29237514	29237514	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr14:29237514C>T	uc001wqe.2	+	1	1228	c.1029C>T	c.(1027-1029)TCC>TCT	p.S343S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	343					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTACAGCTCCGTGTTGACTC	0.652		NA											18	125					0	0	0	0
FAM71D	161142	broad.mit.edu	37	14	67671543	67671543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr14:67671543C>T	uc001xja.1	+	5	903	c.649C>T	c.(649-651)CCG>TCG	p.P217S	FAM71D_uc010aqn.1_RNA	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	hypothetical protein LOC161142	217										ovary(1)	1		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CATCCTGACCCCGTACATGTA	0.498		NA											5	113					0	0	0	0
AP4E1	23431	broad.mit.edu	37	15	51223158	51223158	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:51223158G>C	uc001zyx.1	+	7	889	c.859G>C	c.(859-861)GAT>CAT	p.D287H	AP4E1_uc010ufi.1_Missense_Mutation_p.D287H|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	287					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTAGGAAAAGATGATCAAAG	0.388		NA											3	104					0	0	0	0
HERC1	8925	broad.mit.edu	37	15	63978682	63978682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:63978682G>A	uc002amp.2	-	34	6249	c.6101C>T	c.(6100-6102)TCC>TTC	p.S2034F		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2034	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CGGGTCAAAGGATACTTCTTG	0.453		NA											23	173					0	0	0	0
C15orf27	123591	broad.mit.edu	37	15	76449066	76449066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr15:76449066C>G	uc002bbq.2	+	4	504	c.349C>G	c.(349-351)CTG>GTG	p.L117V	C15orf27_uc010bkp.2_Intron|C15orf27_uc002bbr.2_Intron	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	117	Helical; (Potential).					integral to membrane					0						TCTCCTGACTCTGGAACTTCT	0.423		NA											4	43					0	0	0	0
VWA3A	146177	broad.mit.edu	37	16	22161162	22161162	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr16:22161162G>A	uc010vbq.1	+	29	3135	c.3039G>A	c.(3037-3039)GTG>GTA	p.V1013V	VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Silent_p.V91V|VWA3A_uc010bxe.1_Silent_p.V115V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013	VWFA 2.					extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		ACACGCTGGTGGAGACCACAG	0.557		NA											5	14					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:7578263G>A	uc002gim.2	-	6	780	c.586C>T	c.(586-588)CGA>TGA	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	196	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (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.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			4	34					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11757554	11757554	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:11757554C>T	uc002gne.2	+	50	9810	c.9742C>T	c.(9742-9744)CCC>TCC	p.P3248S	DNAH9_uc010coo.2_Missense_Mutation_p.P2542S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3248	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGCAAGACCCCGAGTTCAA	0.488		NA											13	157					0	0	0	0
SSH2	85464	broad.mit.edu	37	17	27958010	27958010	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:27958010A>T	uc002heo.1	-	15	4121	c.4121T>A	c.(4120-4122)GTG>GAG	p.V1374E	SSH2_uc010wbh.1_Missense_Mutation_p.V1401E	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1374					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GGTCTGTAGCACGGGAAGGCC	0.567		NA											10	70					0	0	0	0
BECN1	8678	broad.mit.edu	37	17	40968043	40968043	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:40968043C>T	uc002ibo.3	-	8	848	c.713G>A	c.(712-714)CGA>CAA	p.R238Q	BECN1_uc010whb.1_Missense_Mutation_p.R151Q|BECN1_uc010whc.1_Missense_Mutation_p.R162Q|BECN1_uc002ibn.2_Missense_Mutation_p.R238Q	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	238	Potential.				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGCTGCTGTCGTTTAAATTC	0.473		NA											7	90					0	0	0	0
MAP3K14	9020	broad.mit.edu	37	17	43351864	43351864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:43351864G>A	uc002iiw.1	-	8	1496	c.1387C>T	c.(1387-1389)CCT>TCT	p.P463S	MAP3K14_uc002iiu.1_5'Flank|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.P47S	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	463	Interaction with ZFP91.|Protein kinase.				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						TTGACCCAAGGCCCTTCTCTC	0.547		NA											5	29					0	0	0	0
SPATA20	64847	broad.mit.edu	37	17	48631733	48631733	+	Silent	SNP	C	C	T	rs147637130	byFrequency	TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:48631733C>T	uc002irf.2	+	14	2172	c.2031C>T	c.(2029-2031)TCC>TCT	p.S677S	SPATA20_uc002irc.2_Silent_p.S344S|SPATA20_uc002ire.2_Silent_p.S633S|SPATA20_uc002ird.2_Silent_p.S693S|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	677					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGCCTTTTCCGAGCGCATGC	0.647		NA											11	99					0	0	0	0
MFSD11	79157	broad.mit.edu	37	17	74740437	74740437	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr17:74740437C>T	uc002jta.2	+	8	1503	c.530C>T	c.(529-531)ACG>ATG	p.T177M	MFSD11_uc002jtb.2_Missense_Mutation_p.T177M|MFSD11_uc010dha.2_Missense_Mutation_p.T125M|MFSD11_uc002jtc.2_Missense_Mutation_p.T177M|MFSD11_uc002jtd.3_Missense_Mutation_p.T177M|MFSD11_uc010dhb.2_Missense_Mutation_p.T125M|MFSD11_uc002jte.2_Missense_Mutation_p.T177M	NM_024311	NP_077287	O43934	MFS11_HUMAN	major facilitator superfamily domain containing	177	Helical; (Potential).					integral to membrane				ovary(1)	1						ATTGCCCTAACGGTGATTAGC	0.413		NA											10	80					0	0	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14799113	14799113	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr18:14799113T>A	uc010dlo.2	+	21	2223	c.2043T>A	c.(2041-2043)AAT>AAA	p.N681K	ANKRD30B_uc010xak.1_RNA	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|skin(1)	2						CTCCTGATAATGATGGTCTTC	0.284		NA											4	35					0	0	0	0
KEAP1	9817	broad.mit.edu	37	19	10610205	10610205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:10610205G>A	uc002moq.1	-	2	661	c.505C>T	c.(505-507)CGT>TGT	p.R169C	KEAP1_uc002mor.1_Missense_Mutation_p.R169C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTGCAGGCACGGACAACGCTG	0.582		NA											6	64					0	0	0	0
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:22155346T>C	uc002nqp.2	-	5	2339	c.2190A>G	c.(2188-2190)GAA>GAG	p.E730E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373		NA											3	115					0	0	0	0
FXYD5	53827	broad.mit.edu	37	19	35660502	35660502	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:35660502G>T	uc002nyg.1	+	9	607	c.521G>T	c.(520-522)CGG>CTG	p.R174L	FXYD5_uc002nyh.1_Missense_Mutation_p.R174L|FXYD5_uc002nyi.1_Missense_Mutation_p.R111L|FXYD5_uc002nyj.1_RNA	NM_014164	NP_054883	Q96DB9	FXYD5_HUMAN	FXYD domain-containing ion transport regulator 5	174	Cytoplasmic (Potential).				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity				0	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTTATGCCGGAATCGTTGC	0.562		NA											6	33					1.07e-07	1.2e-06	1	0
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:53855452A>G	uc010ydv.1	+	4	1641	c.1524A>G	c.(1522-1524)TCA>TCG	p.S508S	ZNF845_uc010ydw.1_Silent_p.S508S	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTTCAAATCAAACCTTGAAA	0.388		NA											4	65					0	0	0	0
LILRB2	10288	broad.mit.edu	37	19	54783667	54783667	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr19:54783667G>A	uc002qfb.2	-	4	600	c.334C>T	c.(334-336)CCC>TCC	p.P112S	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P112S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P112S|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	112	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGCACCAGGGGGTCACTGAGC	0.607		NA											5	76					0	0	0	0
C2orf16	84226	broad.mit.edu	37	2	27801709	27801709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:27801709G>A	uc002rkz.3	+	1	2321	c.2270G>A	c.(2269-2271)GGG>GAG	p.G757E		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	757										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGGGATTCTGGGATACAGGAA	0.418		NA											11	144					0	0	0	0
NMS	129521	broad.mit.edu	37	2	101097598	101097598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:101097598C>T	uc002tan.1	+	8	390	c.383C>T	c.(382-384)GCG>GTG	p.A128V		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	128					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1						GATCACACTGCGACCTGGGGA	0.393		NA											9	142					0	0	0	0
SCN9A	6335	broad.mit.edu	37	2	167142859	167142859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:167142859G>A	uc010fpl.2	-	11	1930	c.1589C>T	c.(1588-1590)TCT>TTT	p.S530F	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S401F|SCN9A_uc002uds.1_Missense_Mutation_p.S401F|SCN9A_uc002udt.1_Missense_Mutation_p.S401F	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	530						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTGGGGGTAGACAACCTCTT	0.448		NA											23	277					0	0	0	0
CASP10	843	broad.mit.edu	37	2	202093772	202093772	+	Missense_Mutation	SNP	G	G	A	rs151011448		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr2:202093772G>A	uc002uxl.1	+	10	1950	c.1532G>A	c.(1531-1533)CGA>CAA	p.R511Q	CASP10_uc002uxm.1_Missense_Mutation_p.R468Q	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	511					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						CAGACACCTCGACCCCCCATG	0.567		NA											11	147					0	0	0	0
SULF2	55959	broad.mit.edu	37	20	46291926	46291926	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr20:46291926T>C	uc002xto.2	-	17	2588	c.2258A>G	c.(2257-2259)AAC>AGC	p.N753S	SULF2_uc002xtr.2_Missense_Mutation_p.N753S|SULF2_uc002xtq.2_Missense_Mutation_p.N753S|SULF2_uc010zyd.1_Missense_Mutation_p.N32S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	753					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CGTGTTATTGTTGGCGCTGGT	0.517		NA									OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	53					0	0	0	0
MRPL39	54148	broad.mit.edu	37	21	26961175	26961175	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr21:26961175T>C	uc002ylo.2	-	9	955	c.941A>G	c.(940-942)GAT>GGT	p.D314G	MRPL39_uc002yln.2_Missense_Mutation_p.D314G	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	314						mitochondrial ribosome	nucleotide binding				0						CAATAGCTTATCCCATATTGT	0.303		NA											14	226					0	0	0	0
C21orf29	54084	broad.mit.edu	37	21	45948404	45948404	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr21:45948404A>G	uc002zfe.1	-	6	919	c.853T>C	c.(853-855)TTC>CTC	p.F285L	C21orf29_uc010gpv.1_Missense_Mutation_p.F217L	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	285					cell adhesion	extracellular region	structural molecule activity				0						TCAAACCAGAACTGGGCGTCT	0.602		NA											13	66					0	0	0	0
CADPS	8618	broad.mit.edu	37	3	62578331	62578331	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:62578331T>C	uc003dll.2	-	7	1778	c.1418A>G	c.(1417-1419)GAG>GGG	p.E473G	CADPS_uc003dlm.2_Missense_Mutation_p.E473G|CADPS_uc003dln.2_Missense_Mutation_p.E473G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	473	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCCTTGTCCTCCAACGCCAG	0.562		NA											3	86					0	0	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582598	64582598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:64582598C>T	uc003dmg.2	-	27	4119	c.4087G>A	c.(4087-4089)GCA>ACA	p.A1363T	ADAMTS9_uc011bfo.1_Missense_Mutation_p.A1335T|ADAMTS9_uc003dmh.1_Missense_Mutation_p.A1192T|ADAMTS9_uc011bfp.1_Missense_Mutation_p.A274T	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1363	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTCGTTTGCGGTGTATCCA	0.507		NA											12	69					0	0	0	0
CNTN3	5067	broad.mit.edu	37	3	74350658	74350658	+	Silent	SNP	T	T	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:74350658T>A	uc003dpm.1	-	15	2066	c.1986A>T	c.(1984-1986)GTA>GTT	p.V662V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	662	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTAACTCAACTACAGTGGCTG	0.433		NA											8	76					0	0	0	0
TRH	7200	broad.mit.edu	37	3	129695951	129695951	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:129695951C>T	uc003enc.2	+	3	1182	c.621C>T	c.(619-621)GGC>GGT	p.G207G		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	207					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						GTCAAGCGGGCCTTCTGCTGG	0.622		NA											6	37					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130281957	130281957	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:130281957G>A	uc010htl.2	+	2	141	c.110G>A	c.(109-111)CGC>CAC	p.R37H		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	37	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGCTCTGATCGCCTGGGATCC	0.458		NA											14	180					0	0	0	0
COPB2	9276	broad.mit.edu	37	3	139078167	139078167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:139078167G>A	uc003etf.3	-	18	2378	c.2248C>T	c.(2248-2250)CGG>TGG	p.R750W	COPB2_uc011bmv.1_Missense_Mutation_p.R721W|COPB2_uc010hui.2_Missense_Mutation_p.R721W	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	750	WD 9.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						TCTGGCAGCCGTCCAGTTCTA	0.393		NA											15	113					0	0	0	0
GFM1	85476	broad.mit.edu	37	3	158402350	158402350	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:158402350G>C	uc003fce.2	+	15	1909	c.1802G>C	c.(1801-1803)GGT>GCT	p.G601A	GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.G532A	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	601					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCTCTTTCTGGTCACAAGCTC	0.458		NA											11	80					0	0	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402348	197402348	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr3:197402348C>T	uc003fyc.2	-	19	2868	c.2685G>A	c.(2683-2685)CAG>CAA	p.Q895Q	KIAA0226_uc003fyd.3_Silent_p.Q850Q|MIR922_hsa-mir-922|MI0005714_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	895	Cys-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATCCTCATTCTGACAGAACT	0.547		NA											21	188					0	0	0	0
SORBS2	8470	broad.mit.edu	37	4	186545502	186545502	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:186545502C>T	uc003iyl.2	-	13	1927	c.1069G>A	c.(1069-1071)GGC>AGC	p.G357S	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.G457S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.G261S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.G471S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	357						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTTGCCAGCCGTTCTTGAAA	0.517		NA											5	71					0	0	0	0
FYB	2533	broad.mit.edu	37	5	39134377	39134377	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:39134377G>T	uc003jls.2	-	8	1817	c.1750C>A	c.(1750-1752)CCT>ACT	p.P584T	FYB_uc003jlt.2_Missense_Mutation_p.P584T|FYB_uc003jlu.2_Missense_Mutation_p.P584T|FYB_uc011cpl.1_Missense_Mutation_p.P594T	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	584					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P584L(1)		ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			GGTCTTGAAGGGGCACCAAGA	0.358		NA											20	142					2.28e-05	0.000251211	1	0
SPATA9	83890	broad.mit.edu	37	5	95018550	95018550	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:95018550G>C	uc003klj.1	-	1	165	c.9C>G	c.(7-9)ATC>ATG	p.I3M	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	3					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CAACAGGTTTGATTGGCATGG	0.463		NA											7	60					0	0	0	0
C5orf30	90355	broad.mit.edu	37	5	102612013	102612013	+	Silent	SNP	A	A	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:102612013A>G	uc003kog.1	+	3	662	c.393A>G	c.(391-393)CCA>CCG	p.P131P	C5orf30_uc003koh.1_Silent_p.P131P	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	hypothetical protein LOC90355	131											0		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		GGCGGATGCCAAGCTCAGGAG	0.498		NA											3	46					0	0	0	0
FAT2	2196	broad.mit.edu	37	5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:150924339G>A	uc003lue.3	-	9	6362	c.6349C>T	c.(6349-6351)CGA>TGA	p.R2117*	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2117	Extracellular (Potential).|Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428		NA											10	114					0	0	0	0
STK10	6793	broad.mit.edu	37	5	171520515	171520515	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr5:171520515C>T	uc003mbo.1	-	9	1755	c.1455G>A	c.(1453-1455)TCG>TCA	p.S485S		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	485							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGCAGTCCGAGTCCCTCT	0.607		NA											13	134					0	0	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596202	24596202	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:24596202C>G	uc011djo.1	-	3	937	c.700G>C	c.(700-702)GTG>CTG	p.V234L	KIAA0319_uc011djp.1_Missense_Mutation_p.V189L|KIAA0319_uc003neh.1_Missense_Mutation_p.V234L|KIAA0319_uc011djq.1_Missense_Mutation_p.V225L|KIAA0319_uc011djr.1_Missense_Mutation_p.V234L	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	234	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						GGAAGCAACACACTTCTCTCA	0.542		NA											3	69					0	0	0	0
TNXB	7148	broad.mit.edu	37	6	32032668	32032668	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:32032668C>T	uc003nzl.2	-	19	6973	c.6771G>A	c.(6769-6771)AAG>AAA	p.K2257K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2329	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCATCTTGTACTTGTGGTCTG	0.627		NA											4	38					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51920457	51920457	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:51920457G>A	uc003pah.1	-	19	2040	c.1764C>T	c.(1762-1764)CTC>CTT	p.L588L	PKHD1_uc003pai.2_Silent_p.L588L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	588	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GAGGCTGACGGAGGCTGAACC	0.552		NA											4	49					0	0	0	0
C6orf204	387119	broad.mit.edu	37	6	118812962	118812962	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:118812962C>G	uc003pxz.1	-	6	1912	c.1324G>C	c.(1324-1326)GGG>CGG	p.G442R	C6orf204_uc003pya.1_Missense_Mutation_p.G445R|C6orf204_uc003pyb.2_Missense_Mutation_p.G442R|C6orf204_uc011ebj.1_Missense_Mutation_p.G340R|C6orf204_uc003pyc.2_Missense_Mutation_p.G445R	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	442	Potential.					centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)		TCAAATTCCCCTTGTTGGGAA	0.373		NA											4	47					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129641784	129641784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr6:129641784C>T	uc003qbn.2	+	28	4265	c.4160C>T	c.(4159-4161)TCT>TTT	p.S1387F	LAMA2_uc003qbo.2_Missense_Mutation_p.S1387F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1387	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGGCTATTCTGGCCTGTCC	0.443		NA											4	31					0	0	0	0
BBS9	27241	broad.mit.edu	37	7	33185888	33185888	+	Silent	SNP	T	T	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:33185888T>C	uc003tdn.1	+	2	537	c.24T>C	c.(22-24)GAT>GAC	p.D8D	BBS9_uc003tdo.1_Silent_p.D8D|BBS9_uc003tdp.1_Silent_p.D8D|BBS9_uc003tdq.1_Silent_p.D8D|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.D8D	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	8					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			AAGCCCGTGATTGGTGGTCTA	0.323		NA							Bardet-Biedl_syndrome				7	56					0	0	0	0
ADCY1	107	broad.mit.edu	37	7	45717468	45717468	+	Missense_Mutation	SNP	C	C	T	rs143601874		TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:45717468C>T	uc003tne.3	+	9	1624	c.1606C>T	c.(1606-1608)CGG>TGG	p.R536W		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	536	Cytoplasmic (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	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATGGCTCCAGCGGAGGGCATT	0.502		NA											11	82					0	0	0	0
PION	54103	broad.mit.edu	37	7	76940734	76940734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:76940734C>T	uc003ugf.2	-	31	2585	c.2506G>A	c.(2506-2508)GAT>AAT	p.D836N	PION_uc011kgo.1_Missense_Mutation_p.D157N|PION_uc003ugd.2_Missense_Mutation_p.D230N	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	836					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						AATTCTGCATCCACATTGTCA	0.428		NA											5	53					0	0	0	0
C7orf63	79846	broad.mit.edu	37	7	89915641	89915641	+	Silent	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:89915641C>G	uc010lep.2	+	14	1835	c.1584C>G	c.(1582-1584)GCC>GCG	p.A528A	C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Silent_p.A203A|C7orf63_uc011khj.1_Silent_p.A510A|C7orf63_uc011khk.1_Silent_p.A90A	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	528							binding			ovary(1)	1						AGGAAGAAGCCATTGTTTTGG	0.318		NA											5	52					0	0	0	0
SAMD9	54809	broad.mit.edu	37	7	92731813	92731813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:92731813C>T	uc003umf.2	-	3	3854	c.3598G>A	c.(3598-3600)GAG>AAG	p.E1200K	SAMD9_uc003umg.2_Missense_Mutation_p.E1200K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1200						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCTATCTCTCCTTGATAA	0.338		NA											17	125					0	0	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919246	142919246	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr7:142919246C>T	uc011ksx.1	+	1	75	c.75C>T	c.(73-75)TCC>TCT	p.S25S		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	25	Helical; Name=1; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					TGGTGGTCTCCGGAATAGAGT	0.517		NA											11	80					0	0	0	0
CSPP1	79848	broad.mit.edu	37	8	68007559	68007559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:68007559G>A	uc003xxi.2	+	8	678	c.647G>A	c.(646-648)GGT>GAT	p.G216D	CSPP1_uc003xxg.1_Missense_Mutation_p.G208D|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.G181D|CSPP1_uc003xxk.2_5'UTR	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	216						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAACCTATTGGTCAAGTTAAG	0.328		NA											14	71					0	0	0	0
TMEM70	54968	broad.mit.edu	37	8	74893475	74893475	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:74893475A>C	uc003yab.2	+	3	489	c.402A>C	c.(400-402)GAA>GAC	p.E134D	TMEM70_uc003yac.2_3'UTR	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	transmembrane protein 70 isoform a	134					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				ovary(1)	1	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTATTTCTGAAAGTGTGCCTC	0.373		NA											26	83					0	0	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152401	133152401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr8:133152401G>A	uc003ytj.2	-	11	1715	c.1490C>T	c.(1489-1491)GCG>GTG	p.A497V	KCNQ3_uc010mdt.2_Missense_Mutation_p.A497V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	497					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTGTCTTCCGCCATGGGGTC	0.612		NA											13	31					0	0	0	0
DBC1	1620	broad.mit.edu	37	9	121929389	121929389	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:121929389C>T	uc004bkc.2	-	8	2715	c.2259G>A	c.(2257-2259)TCG>TCA	p.S753S		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	753					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						TCATCTGGTCCGACTGTTTGA	0.438		NA											27	155					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139407533	139407533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:139407533G>A	uc004chz.2	-	15	2407	c.2407C>T	c.(2407-2409)CAG>TAG	p.Q803*	NOTCH1_uc004cia.1_Nonsense_Mutation_p.Q33*	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	803	Extracellular (Potential).|EGF-like 21; calcium-binding (Potential).			Q -> K (in Ref. 1; AAG33848 and 3; AAA60614).	aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACGTGCCCTGGTTCAGACAT	0.637		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			11	36					0	0	0	0
EHMT1	79813	broad.mit.edu	37	9	140611325	140611325	+	Silent	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr9:140611325C>T	uc011mfc.1	+	3	370	c.333C>T	c.(331-333)GCC>GCT	p.A111A	EHMT1_uc004coa.2_Silent_p.A111A|EHMT1_uc004cob.1_Silent_p.A80A	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	111					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGTCACTGCCGACGACTTTG	0.542		NA											7	99					0	0	0	0
DMD	1756	broad.mit.edu	37	X	32380923	32380923	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:32380923G>T	uc004dda.1	-	37	5551	c.5307C>A	c.(5305-5307)CAC>CAA	p.H1769Q	DMD_uc004dcw.2_Missense_Mutation_p.H425Q|DMD_uc004dcx.2_Missense_Mutation_p.H428Q|DMD_uc004dcz.2_Missense_Mutation_p.H1646Q|DMD_uc004dcy.1_Missense_Mutation_p.H1765Q|DMD_uc004ddb.1_Missense_Mutation_p.H1761Q|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1769	Spectrin 12.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTAATTCTGTGTGAAATGG	0.473		NA											14	140					3.33e-07	3.72e-06	1	0
FAM123B	139285	broad.mit.edu	37	X	63410343	63410343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:63410343G>A	uc004dvo.2	-	2	3097	c.2824C>T	c.(2824-2826)CGA>TGA	p.R942*		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	942					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GGACTGTCTCGGCTCCATTCT	0.587		NA											7	49					0	0	0	0
KIF4A	24137	broad.mit.edu	37	X	69510347	69510347	+	Silent	SNP	G	G	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:69510347G>A	uc004dyg.2	+	2	166	c.39G>A	c.(37-39)GCG>GCA	p.A13A	KIF4A_uc010nkw.2_Silent_p.A13A|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.1_Silent_p.A13A	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	13	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						TAAGAGTGGCGCTGCGTTGTC	0.557		NA											9	50					0	0	0	0
RLIM	51132	broad.mit.edu	37	X	73812879	73812879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:73812879C>T	uc004ebu.2	-	5	561	c.271G>A	c.(271-273)GAT>AAT	p.D91N	RLIM_uc004ebw.2_Missense_Mutation_p.D91N	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	91					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TTAGACACATCATCTGAAGAG	0.418		NA											7	70					0	0	0	0
SRPX2	27286	broad.mit.edu	37	X	99925827	99925827	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:99925827C>G	uc004egb.2	+	11	1721	c.1241C>G	c.(1240-1242)TCC>TGC	p.S414C		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	414					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2						CTCACTCGCTCCTACTTCAAC	0.517		NA									OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	101					0	0	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135754234	135754234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chrX:135754234C>A	uc004fab.2	-	20	2542	c.2080G>T	c.(2080-2082)GAG>TAG	p.E694*	ARHGEF6_uc011mwd.1_Nonsense_Mutation_p.E567*|ARHGEF6_uc011mwe.1_Nonsense_Mutation_p.E540*	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	694					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					ATGAGTTTCTCTTCCTCAGGG	0.473		NA											13	159					0.000219431	0.00237628	1	0
ATP2C2	9914	broad.mit.edu	37	16	84492766	84492766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr16:84492766delA	uc002fhx.2	+	22	2277	c.2188delA	c.(2188-2190)AAAfs	p.K730fs	ATP2C2_uc010chj.2_Frame_Shift_Del_p.K730fs|ATP2C2_uc002fhy.2_Frame_Shift_Del_p.K747fs|ATP2C2_uc002fhz.2_Frame_Shift_Del_p.K579fs|ATP2C2_uc002fia.2_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	730	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						TTACAACATCAAAAACTTTGT	0.557		NA											7	92	---	---	---	---	NA	NA	NA	NA
NEK1	4750	broad.mit.edu	37	4	170523716	170523716	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7238-01A-11D-2012-08	TCGA-CV-7238-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e9619e49-7185-4158-9e8b-45d446960b60	89cd05d8-c8df-41e1-8df6-5d108fabd7f6	g.chr4:170523716delT	uc003isb.1	-	2	558	c.66delA	c.(64-66)AAAfs	p.K22fs	NEK1_uc003isc.1_Frame_Shift_Del_p.K22fs|NEK1_uc003isd.1_Frame_Shift_Del_p.K22fs|NEK1_uc003ise.1_Frame_Shift_Del_p.K22fs|NEK1_uc003isf.1_Frame_Shift_Del_p.K22fs	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	22	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTCTGTAGATTTAACAAGAA	0.318		NA											22	165	---	---	---	---	NA	NA	NA	NA
