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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
HES4	57801	broad.mit.edu	37	1	934921	934921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:934921G>A	uc001aci.2	-	3	476	c.277C>T	c.(277-279)CGC>TGC	p.R93C	HES4_uc010nyc.1_Missense_Mutation_p.R119C	NM_021170	NP_066993	Q9HCC6	HES4_HUMAN	hairy and enhancer of split 4 isoform 2	93					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGCACGCGACGCAGGCTC	0.736		NaN											0	0	0	0.004672	0	3	10				
SPEN	23013	broad.mit.edu	37	1	16261448	16261448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:16261448G>A	uc001axk.1	+	11	8917	c.8713G>A	c.(8713-8715)GAT>AAT	p.D2905N	SPEN_uc010obp.1_Missense_Mutation_p.D2864N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2905					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTGAAGGCCGATAGGCCATC	0.577		NaN											0	0	0	0.014323	0	18	19				
KIAA0090	23065	broad.mit.edu	37	1	19557916	19557916	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:19557916C>G	uc001bbo.2	-	16	1826	c.1783G>C	c.(1783-1785)GAG>CAG	p.E595Q	KIAA0090_uc001bbp.2_Missense_Mutation_p.E594Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.E594Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.E573Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	595	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		ATTCCCGACTCCTAAAATGAG	0.507		NaN											0	0	0	0.001168	0	5	13				
TMEM50A	23585	broad.mit.edu	37	1	25678151	25678151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:25678151G>T	uc001bke.2	+	4	391	c.241G>T	c.(241-243)GAT>TAT	p.D81Y	TMEM50A_uc010oeq.1_Missense_Mutation_p.D81Y|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA	NM_014313	NP_055128	O95807	TM50A_HUMAN	small membrane protein 1	81						endoplasmic reticulum|integral to membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		AGTCCGAGGTGATAGTTACAG	0.358		NaN											1	0	1.20466e-24	0.01441	1.30241e-24	44	46				
PTAFR	5724	broad.mit.edu	37	1	28476921	28476921	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:28476921G>T	uc001bpl.2	-	2	739	c.612C>A	c.(610-612)TTC>TTA	p.F204L	PTAFR_uc001bpm.3_Missense_Mutation_p.F204L|PTAFR_uc009vte.2_Missense_Mutation_p.F204L	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	204	Helical; Name=5; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTTGCAGAAGAGGATGA	0.567		NaN											1	0	2.32078e-09	0.003163	2.42404e-09	15	13				
PTAFR	5724	broad.mit.edu	37	1	28477482	28477482	+	Silent	SNP	G	G	C	rs143590918		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:28477482G>C	uc001bpl.2	-	2	178	c.51C>G	c.(49-51)CTC>CTG	p.L17L	PTAFR_uc001bpm.3_Silent_p.L17L|PTAFR_uc009vte.2_Silent_p.L17L	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	17	Helical; Name=1; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCGGGAAGAGAGTGTATC	0.527		NaN											0	0	0	0.007835	0	30	29				
ZMYM4	9202	broad.mit.edu	37	1	35851047	35851047	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:35851047C>G	uc001byt.2	+	10	1654	c.1574C>G	c.(1573-1575)TCA>TGA	p.S525*	ZMYM4_uc009vuu.2_Nonsense_Mutation_p.S493*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.S201*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.S264*	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	525	MYM-type 4.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAATAGAAATCAGCCAAAATT	0.318		NaN											0	0	0	0.009718	0	29	50				
FAM176B	55194	broad.mit.edu	37	1	36788636	36788636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:36788636C>T	uc001cai.1	-	1	214	c.3G>A	c.(1-3)ATG>ATA	p.M1I	C1orf113_uc010oic.1_Intron|FAM176B_uc001caj.1_Missense_Mutation_p.M1I	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN	hypothetical protein LOC55194	1						integral to membrane				pancreas(1)	1						GCGGGGCATCCATGCTGCTCT	0.687		NaN											0	0	0	0.013114	0	37	44				
HIVEP3	59269	broad.mit.edu	37	1	42041338	42041338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:42041338G>A	uc001cgz.3	-	5	6297	c.5084C>T	c.(5083-5085)TCC>TTC	p.S1695F	HIVEP3_uc001cha.3_Missense_Mutation_p.S1695F|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1695					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCTTCCGGGGAAACCAGTGA	0.542		NaN											0	0	0	0.013114	0	39	37				
NASP	4678	broad.mit.edu	37	1	46083736	46083736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:46083736G>A	uc001coi.1	+	15	2392	c.2290G>A	c.(2290-2292)GAG>AAG	p.E764K	NASP_uc001coh.1_Missense_Mutation_p.E766K|NASP_uc001coj.1_Missense_Mutation_p.E425K|NASP_uc010olr.1_Missense_Mutation_p.E700K|NASP_uc001col.1_Missense_Mutation_p.E272K	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	764	Potential.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CTTCCAGGCTGAGAATCAGGC	0.517		NaN											0	0	0	0.00308	0	5	7				
RNF11	26994	broad.mit.edu	37	1	51736896	51736896	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:51736896C>T	uc001csi.3	+	3	851	c.367C>T	c.(367-369)CTG>TTG	p.L123L		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	123	RING-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0						CATCTATCACCTGGACTGTAT	0.473		NaN											0	0	0	0.013726	0	27	168				
ACOT11	26027	broad.mit.edu	37	1	55058277	55058277	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:55058277G>C	uc001cxm.1	+	4	452	c.370G>C	c.(370-372)GAG>CAG	p.E124Q	ACOT11_uc001cxj.1_Missense_Mutation_p.E2Q|ACOT11_uc001cxk.2_Missense_Mutation_p.E90Q|ACOT11_uc001cxl.1_Missense_Mutation_p.E124Q	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	124	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CTCCAGCATGGAGGTGTGTGG	0.597		NaN											0	0	0	0.006999	0	35	49				
FGGY	55277	broad.mit.edu	37	1	60139745	60139745	+	Silent	SNP	C	C	G	rs114601020	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:60139745C>G	uc001czi.3	+	14	1664	c.1452C>G	c.(1450-1452)TCC>TCG	p.S484S	FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.S508S|FGGY_uc001czj.3_Silent_p.S483S|FGGY_uc001czk.3_Silent_p.S372S|FGGY_uc001czl.3_Silent_p.S396S|FGGY_uc001czm.3_Silent_p.S185S	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	484					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					AGGTGGAGTCCGTTCTTGTGG	0.612		NaN											0	0	0	0.010504	0	15	28				
C1orf173	127254	broad.mit.edu	37	1	75037663	75037663	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:75037663G>T	uc001dgg.2	-	14	3950	c.3731C>A	c.(3730-3732)GCA>GAA	p.A1244E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1244	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						ATCTTTGGCTGCTAGCTCCTC	0.617		NaN											1	0	1.01871e-10	0.008871	1.0663e-10	15	40				
HFM1	164045	broad.mit.edu	37	1	91778938	91778938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:91778938G>A	uc001doa.3	-	30	3459	c.3359C>T	c.(3358-3360)TCA>TTA	p.S1120L	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S799L|HFM1_uc001dob.3_Missense_Mutation_p.S308L|HFM1_uc010osv.1_Missense_Mutation_p.S804L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1120							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGATATGTCTGAATGTTTAGA	0.328		NaN											0	0	0	0.001168	0	4	74				
FNDC7	163479	broad.mit.edu	37	1	109271379	109271379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:109271379C>T	uc001dvx.2	+	8	1495	c.1495C>T	c.(1495-1497)CAG>TAG	p.Q499*	FNDC7_uc010ova.1_Nonsense_Mutation_p.Q266*	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	500	Fibronectin type-III 6.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGGACTGTATCAGTGCAGCAG	0.542		NaN											0	0	0	0.005524	0	30	40				
IGSF3	3321	broad.mit.edu	37	1	117150798	117150798	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:117150798G>A	uc001egr.1	-	5	1693	c.988C>T	c.(988-990)CCT>TCT	p.P330S	IGSF3_uc001egq.1_Missense_Mutation_p.P330S|IGSF3_uc001egs.1_Missense_Mutation_p.P3S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	330	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACAGCGTTAGGACCCATGGTG	0.562		NaN											0	0	0	0.00245	0	11	13				
CD101	9398	broad.mit.edu	37	1	117556174	117556174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:117556174G>A	uc010oxb.1	+	4	1046	c.988G>A	c.(988-990)GAT>AAT	p.D330N	CD101_uc009whd.2_Missense_Mutation_p.D330N|CD101_uc010oxc.1_Missense_Mutation_p.D330N|CD101_uc010oxd.1_Missense_Mutation_p.D268N	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	330	Ig-like C2-type 3.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TGCTCACATTGATGCTGGTGG	0.493		NaN											0	0	0	0.008291	0	8	73				
ANKRD34A	284615	broad.mit.edu	37	1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:145473612C>T	uc001enq.1	+	4	1577	c.284C>T	c.(283-285)TCG>TTG	p.S95L	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	95	ANK 3.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721		NaN											0	0	0	0.009535	0	29	16				
ZNF687	57592	broad.mit.edu	37	1	151261980	151261980	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:151261980C>G	uc001exq.2	+	5	2696	c.2598C>G	c.(2596-2598)CTC>CTG	p.L866L	ZNF687_uc009wmo.2_Silent_p.L866L|ZNF687_uc009wmp.2_Silent_p.L866L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	866	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCTCTGCTCTTTGCCCAAA	0.547		NaN											0	0	0	0.004878	0	33	70				
HRNR	388697	broad.mit.edu	37	1	152187697	152187697	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:152187697G>A	uc001ezt.1	-	3	6484	c.6408C>T	c.(6406-6408)CAC>CAT	p.H2136H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2136					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557		NaN											0	0	0	0.01441	0	62	546				
ARHGEF2	9181	broad.mit.edu	37	1	155921970	155921970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:155921970G>A	uc001fmt.2	-	16	2159	c.2041C>T	c.(2041-2043)CGA>TGA	p.R681*	ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Nonsense_Mutation_p.R653*|ARHGEF2_uc001fms.2_Nonsense_Mutation_p.R680*|ARHGEF2_uc001fmu.2_Nonsense_Mutation_p.R725*	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	681					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.N681S(1)		ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGGCTCTCGGGGTGTCAAG	0.602		NaN											0	0	0	0.004482	0	8	63				
KCNJ10	3766	broad.mit.edu	37	1	160012277	160012277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:160012277C>G	uc001fuw.1	-	2	196	c.46G>C	c.(46-48)GAA>CAA	p.E16Q		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	16	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCGGCTTTCTGTCTGAGTG	0.532		NaN											0	0	0	0.01441	0	142	30				
NCSTN	23385	broad.mit.edu	37	1	160322686	160322686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:160322686G>A	uc001fvx.2	+	9	1130	c.1006G>A	c.(1006-1008)GAC>AAC	p.D336N	NCSTN_uc001fvy.2_Missense_Mutation_p.D316N|NCSTN_uc010pjf.1_Missense_Mutation_p.D198N|NCSTN_uc001fvz.2_Missense_Mutation_p.D116N|NCSTN_uc010pjg.1_Missense_Mutation_p.D78N	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	336	Extracellular (Potential).			DY->AA: Increases production of amyloid beta (beta-APP40 and beta-APP42) in APP processing.	amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAACTTTTGACTACATTGG	0.502		NaN											0	0	0	0.00632	0	22	132				
DDR2	4921	broad.mit.edu	37	1	162745932	162745932	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:162745932C>G	uc001gcf.2	+	17	2520	c.2055C>G	c.(2053-2055)ACC>ACG	p.T685T	DDR2_uc001gcg.2_Silent_p.T685T	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	685	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCAGTTACACCAATCTGAAGT	0.413		NaN											0	0	0	0.01441	0	231	61				
ZBTB41	360023	broad.mit.edu	37	1	197169253	197169253	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:197169253C>G	uc001gtx.1	-	1	420	c.351G>C	c.(349-351)TTG>TTC	p.L117F	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	117	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						GATTTTTGCTCAAACACGCAT	0.358		NaN											0	0	0	0.01441	0	60	26				
PCNXL2	80003	broad.mit.edu	37	1	233136233	233136233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:233136233C>T	uc001hvl.2	-	30	5381	c.5146G>A	c.(5146-5148)GAG>AAG	p.E1716K	PCNXL2_uc001hvk.1_Missense_Mutation_p.E368K|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1716						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGATGGCCTCGTAGAGGACT	0.612		NaN											0	0	0	0.00308	0	7	7				
RYR2	6262	broad.mit.edu	37	1	237806719	237806719	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:237806719C>T	uc001hyl.1	+	48	7434	c.7314C>T	c.(7312-7314)ATC>ATT	p.I2438I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2438	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATCAGCATCGCTTTTCAGA	0.438		NaN											0	0	0	0.011902	0	42	34				
RYR2	6262	broad.mit.edu	37	1	237947553	237947553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:237947553G>A	uc001hyl.1	+	90	12661	c.12541G>A	c.(12541-12543)GGA>AGA	p.G4181R	RYR2_uc010pya.1_Missense_Mutation_p.G596R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4181					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACGAAGGCGGAGAGAAAGA	0.502		NaN											0	0	0	0.00308	0	6	76				
IDI2	91734	broad.mit.edu	37	10	1070566	1070566	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:1070566G>A	uc001ifv.1	-	2	163	c.98C>T	c.(97-99)GCC>GTC	p.A33V	C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	33					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTTGGTGTCGGCACCAATAAC	0.478		NaN											0	0	0	0.004672	0	3	43				
C10orf71	118461	broad.mit.edu	37	10	50532111	50532111	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:50532111G>A	uc010qgp.1	+	3	1860	c.1521G>A	c.(1519-1521)CGG>CGA	p.R507R		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	507											0						AGGACGTGCGGAAGCGTGTTA	0.488		NaN											0	0	0	0.010729	0	7	17				
TFAM	7019	broad.mit.edu	37	10	60148581	60148581	+	Splice_Site	SNP	T	T	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:60148581T>G	uc001jkf.2	+	4	573	c.441_splice	c.e4+2	p.K147_splice	TFAM_uc001jkg.2_Splice_Site|TFAM_uc001jkh.2_Splice_Site_p.K147_splice	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor						DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						AAAAAAAAAGTGAGTATCATT	0.269		NaN											0	0	0	0.010729	0	8	19				
JMJD1C	221037	broad.mit.edu	37	10	64968350	64968350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:64968350G>A	uc001jmn.2	-	10	3379	c.3079C>T	c.(3079-3081)CAA>TAA	p.Q1027*	JMJD1C_uc001jml.2_Nonsense_Mutation_p.Q808*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.Q739*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.Q845*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.Q845*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q64*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1027					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATACTTTCTTGAAGAATTCGA	0.418		NaN											0	0	0	0.009535	0	30	72				
JMJD1C	221037	broad.mit.edu	37	10	64968353	64968353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:64968353G>A	uc001jmn.2	-	10	3376	c.3076C>T	c.(3076-3078)CTT>TTT	p.L1026F	JMJD1C_uc001jml.2_Missense_Mutation_p.L807F|JMJD1C_uc001jmm.2_Missense_Mutation_p.L738F|JMJD1C_uc010qiq.1_Missense_Mutation_p.L844F|JMJD1C_uc009xpi.2_Missense_Mutation_p.L844F|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.L63F	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1026					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTTTCTTGAAGAATTCGACGG	0.423		NaN											0	0	0	0.012213	0	31	69				
PBLD	64081	broad.mit.edu	37	10	70044041	70044041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:70044041G>A	uc001jns.1	-	10	963	c.760C>T	c.(760-762)CAG>TAG	p.Q254*	PBLD_uc001jnr.1_Nonsense_Mutation_p.Q221*|PBLD_uc001jnt.1_Nonsense_Mutation_p.Q254*	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	254					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3						TGGGAACACTGAAAAGCTAAA	0.423		NaN											0	0	0	0.006122	0	18	31				
ZMIZ1	57178	broad.mit.edu	37	10	81072474	81072474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:81072474G>A	uc001kaf.2	+	25	3744	c.3172G>A	c.(3172-3174)GAT>AAT	p.D1058N	ZMIZ1_uc001kag.2_Missense_Mutation_p.D934N|ZMIZ1_uc010qlq.1_Missense_Mutation_p.D124N	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	1058					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAATAGTAACGATGACCTCCT	0.537		NaN											0	0	0	0.01441	0	54	104				
NOC3L	64318	broad.mit.edu	37	10	96116974	96116974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:96116974G>C	uc001kjq.1	-	4	553	c.465C>G	c.(463-465)ATC>ATG	p.I155M	NOC3L_uc009xuk.1_Translation_Start_Site	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	155						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				TTTTATCTTTGATAGGAAGTA	0.368		NaN											0	0	0	0.01441	0	41	33				
SLK	9748	broad.mit.edu	37	10	105763061	105763061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:105763061C>G	uc001kxo.1	+	9	2159	c.2125C>G	c.(2125-2127)CTA>GTA	p.L709V	SLK_uc001kxp.1_Missense_Mutation_p.L709V	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	709					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCAGCCTGTTCTAATACCCAG	0.353		NaN											0	0	0	0.009718	0	30	20				
ZDHHC6	64429	broad.mit.edu	37	10	114192016	114192016	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:114192016C>G	uc001kzv.2	-	10	1544	c.1120G>C	c.(1120-1122)GAT>CAT	p.D374H	ZDHHC6_uc001kzw.2_Missense_Mutation_p.D370H	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	374						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AAGGAATCATCAAGAATTTTG	0.274		NaN											0	0	0	0.001168	0	5	11				
PAOX	196743	broad.mit.edu	37	10	135204914	135204914	+	Silent	SNP	C	C	T	rs140094339		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:135204914C>T	uc001lmv.2	+	7	1571	c.1491C>T	c.(1489-1491)CTC>CTT	p.L497L	PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Nonsense_Mutation_p.Q445*|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1	635					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACCGCCTCCTCAGTCTGTGGG	0.662		NaN											0	0	0	0.003954	0	24	35				
TRPM5	29850	broad.mit.edu	37	11	2436597	2436597	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:2436597C>T	uc001lwm.3	-	9	1242	c.1233G>A	c.(1231-1233)ACG>ACA	p.T411T	TRPM5_uc010qxl.1_Silent_p.T411T|TRPM5_uc009ydn.2_Silent_p.T413T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	411	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCCCATACGTCAGGAAGT	0.652		NaN											0	0	0	0.000602	0	5	9				
CCKBR	887	broad.mit.edu	37	11	6281307	6281307	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:6281307G>A	uc001mcp.2	+	1	342	c.149G>A	c.(148-150)CGA>CAA	p.R50Q	CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Missense_Mutation_p.R50Q|CCKBR_uc001mcs.2_Missense_Mutation_p.R50Q	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	50	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCCGGGACACGAGGTGGGTGC	0.647		NaN											0	0	0	0.008361	0	21	29				
KCNC1	3746	broad.mit.edu	37	11	17757753	17757753	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:17757753G>A	uc001mnk.3	+	1	259	c.204G>A	c.(202-204)CTG>CTA	p.L68L	KCNC1_uc009yhc.1_Silent_p.L68L	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	68	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CGCACATCCTGAACTACTACC	0.672		NaN											0	0	0	0.004656	0	24	33				
SLC17A6	57084	broad.mit.edu	37	11	22396376	22396376	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:22396376C>G	uc001mqk.2	+	9	1530	c.1117C>G	c.(1117-1119)CTA>GTA	p.L373V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	373	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TGCAGATTTTCTAAGAAGCAA	0.388		NaN											0	0	0	0.01441	0	84	103				
BBOX1	8424	broad.mit.edu	37	11	27077157	27077157	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:27077157G>A	uc001mre.1	+	3	548	c.180G>A	c.(178-180)GTG>GTA	p.V60V	BBOX1_uc009yih.1_Silent_p.V60V|BBOX1_uc001mrg.1_Silent_p.V60V	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	60					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	CTCTTGATGTGAACATTGGAA	0.408		NaN											0	0	0	0.010729	0	9	12				
FNBP4	23360	broad.mit.edu	37	11	47767859	47767859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:47767859C>G	uc009ylv.2	-	7	1147	c.994G>C	c.(994-996)GAG>CAG	p.E332Q	FNBP4_uc001ngj.2_Missense_Mutation_p.E239Q|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	332										ovary(1)	1						TTTATTCCCTCAGGCAATAAA	0.398		NaN											0	0	0	0.001855	0	13	14				
OR4C15	81309	broad.mit.edu	37	11	55322235	55322235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:55322235G>A	uc010rig.1	+	1	453	c.453G>A	c.(451-453)ATG>ATA	p.M151I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						AAGGCTGCATGATGCAGCTCT	0.483		NaN								HNSCC(20;0.049)			0	0	0	0.009718	0	42	66				
OR5L2	26338	broad.mit.edu	37	11	55594854	55594854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:55594854C>T	uc001nhy.1	+	1	160	c.160C>T	c.(160-162)CGG>TGG	p.R54W		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				GGTCAGCTCTCGGCTCCACAC	0.473		NaN								HNSCC(27;0.073)			0	0	0	0.01441	0	144	59				
SLC15A3	51296	broad.mit.edu	37	11	60718900	60718900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:60718900C>T	uc001nqn.2	-	1	358	c.124G>A	c.(124-126)GAG>AAG	p.E42K	SLC15A3_uc001nqo.2_Missense_Mutation_p.E42K	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	42	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						TCCAGCATCTCCACCAGCAGC	0.368		NaN											0	0	0	0.009096	0	3	7				
AHNAK	79026	broad.mit.edu	37	11	62295516	62295516	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62295516G>T	uc001ntl.2	-	5	6673	c.6373C>A	c.(6373-6375)CAC>AAC	p.H2125N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2125					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCTTTCAAGTGTAAGTCCACA	0.522		NaN											1	0	0.00198382	0.001984	0.00202489	5	240				
AHNAK	79026	broad.mit.edu	37	11	62295522	62295522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62295522C>T	uc001ntl.2	-	5	6667	c.6367G>A	c.(6367-6369)GAC>AAC	p.D2123N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2123					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAGTGTAAGTCCACATCAGGC	0.522		NaN											0	0	0	0.00308	0	6	237				
C11orf83	790955	broad.mit.edu	37	11	62439585	62439585	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62439585G>A	uc001nui.3	+	2	373	c.281G>A	c.(280-282)TGA>TAA	p.*94*	C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN	hypothetical protein LOC790955 precursor	94						extracellular region					0						AGGTCACCGTGAGACCGGACT	0.687		NaN											0	0	0	0.004672	0	2	1				
BBS1	582	broad.mit.edu	37	11	66299177	66299177	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:66299177G>C	uc001oij.1	+	16	1671	c.1659G>C	c.(1657-1659)GAG>GAC	p.E553D	BBS1_uc001oii.1_Missense_Mutation_p.E590D|BBS1_uc010rpg.1_Missense_Mutation_p.E456D|BBS1_uc001oik.1_Missense_Mutation_p.E477D|BBS1_uc001oil.1_Missense_Mutation_p.E424D|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.E221D	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	553					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1						CCTTTGTGGAGAGTCTCAGTA	0.552		NaN							Bardet-Biedl_syndrome				0	0	0	0.01441	0	61	99				
PRKRIR	5612	broad.mit.edu	37	11	76062117	76062117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:76062117C>G	uc001oxh.1	-	5	2077	c.2077G>C	c.(2077-2079)GAG>CAG	p.E693Q	PRKRIR_uc010rrz.1_Missense_Mutation_p.E518Q	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	693					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CGCTCATTCTCAACCTTCATC	0.418		NaN											0	0	0	0.00874	0	34	20				
PRKRIR	5612	broad.mit.edu	37	11	76062585	76062585	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:76062585C>G	uc001oxh.1	-	5	1609	c.1609G>C	c.(1609-1611)GAG>CAG	p.E537Q	PRKRIR_uc010rrz.1_Missense_Mutation_p.E362Q	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	537					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						GTGGCTTCCTCAAACCAAAAT	0.428		NaN											0	0	0	0.006214	0	7	13				
ODZ4	26011	broad.mit.edu	37	11	78516497	78516497	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:78516497G>A	uc001ozl.3	-	15	2482	c.2019C>T	c.(2017-2019)TGC>TGT	p.C673C		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	673	EGF-like 4.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CGCCTCTCACGCAGACACCCC	0.582		NaN											0	0	0	0.001168	0	4	12				
GRM5	2915	broad.mit.edu	37	11	88780766	88780766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:88780766C>T	uc001pcq.2	-	1	475	c.275G>A	c.(274-276)GGC>GAC	p.G92D	GRM5_uc009yvm.2_Missense_Mutation_p.G92D|GRM5_uc009yvn.1_Missense_Mutation_p.G92D	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	92	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.G92R(1)		central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TATCTCACAGCCCAGTGTGAT	0.522		NaN											0	0	0	0.003163	0	10	16				
AMOTL1	154810	broad.mit.edu	37	11	94533413	94533413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:94533413C>T	uc001pfb.2	+	3	1227	c.1057C>T	c.(1057-1059)CAG>TAG	p.Q353*	AMOTL1_uc001pfc.2_Nonsense_Mutation_p.Q303*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	353						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCCTGCTCCTCAGCCTGTGAG	0.567		NaN											0	0	0	0.01441	0	54	99				
BIRC3	330	broad.mit.edu	37	11	102195686	102195686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:102195686G>C	uc001pgx.2	+	3	668	c.446G>C	c.(445-447)AGA>ACA	p.R149T		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	149					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTAAACTCCAGAGCAAATCAA	0.393		NaN	T	MALT1	MALT								0	0	0	0.01441	0	41	73				
DYNC2H1	79659	broad.mit.edu	37	11	102980483	102980483	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:102980483C>G	uc001pho.2	+	1	324	c.180C>G	c.(178-180)ATC>ATG	p.I60M	DYNC2H1_uc001phn.1_Missense_Mutation_p.I60M|DYNC2H1_uc009yxe.1_Missense_Mutation_p.I60M	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	60	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACGCAGGAATCTCCTTTTCCA	0.557		NaN											0	0	0	0.012213	0	27	21				
EXPH5	23086	broad.mit.edu	37	11	108383904	108383904	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:108383904T>A	uc001pkk.2	-	6	2441	c.2330A>T	c.(2329-2331)GAT>GTT	p.D777V	EXPH5_uc010rvy.1_Missense_Mutation_p.D589V|EXPH5_uc010rvz.1_Missense_Mutation_p.D621V|EXPH5_uc010rwa.1_Missense_Mutation_p.D701V	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	777					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTGGAGGTATCTTTCCTGGA	0.388		NaN											0	0	0	0.01441	0	34	52				
C11orf57	55216	broad.mit.edu	37	11	111946331	111946331	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:111946331G>T	uc001pmr.3	+	2	714	c.33G>T	c.(31-33)CTG>CTT	p.L11L	PIH1D2_uc009yyl.2_5'Flank|PIH1D2_uc001pmq.3_5'Flank|PIH1D2_uc001pmp.3_5'Flank|PIH1D2_uc010rws.1_5'Flank|C11orf57_uc001pmu.2_Silent_p.L11L|C11orf57_uc001pmw.3_Silent_p.L11L|C11orf57_uc001pmt.3_Silent_p.L11L|C11orf57_uc001pmv.3_Silent_p.L11L|C11orf57_uc001pms.3_5'UTR	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN	hypothetical protein LOC55216 isoform b	11										breast(2)|ovary(1)	3		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGGTCCTCCTGAGGAATGTCA	0.413		NaN											1	0	6.07407e-21	0.007291	6.52401e-21	22	25				
IFT46	56912	broad.mit.edu	37	11	118416128	118416128	+	Nonsense_Mutation	SNP	G	G	C	rs45508996		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:118416128G>C	uc001ptp.1	-	11	1193	c.815C>G	c.(814-816)TCA>TGA	p.S272*	TMEM25_uc001ptl.2_Intron|TMEM25_uc001ptm.2_Intron|TMEM25_uc001ptn.2_Intron|IFT46_uc001pto.1_Nonsense_Mutation_p.S323*|IFT46_uc009zaf.1_Intron	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	IFT46	272					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0						GCTCACCTGTGAGTTCTTGAA	0.458		NaN											0	0	0	0.01441	0	56	47				
HINFP	25988	broad.mit.edu	37	11	119003647	119003647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:119003647G>T	uc001pvp.2	+	9	1138	c.949G>T	c.(949-951)GAG>TAG	p.E317*	HINFP_uc001pvq.2_Nonsense_Mutation_p.E317*|HINFP_uc001pvr.2_Nonsense_Mutation_p.E70*	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	317	C2H2-type 8.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GTGTGATTTTGAGAACTGCAC	0.517		NaN											1	0	1.00905e-13	0.008871	1.06751e-13	19	42				
HSPA8	3312	broad.mit.edu	37	11	122931883	122931883	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:122931883C>T	uc001pyo.2	-	2	228	c.150G>A	c.(148-150)TTG>TTA	p.L50L	HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Silent_p.L50L|HSPA8_uc010rzu.1_Silent_p.L50L|HSPA8_uc009zbd.1_Silent_p.L50L|HSPA8_uc010rzv.1_Silent_p.L50L	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	50					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CATCACCGATCAACCGTTCAG	0.448		NaN											0	0	0	0.008871	0	15	33				
OR10G8	219869	broad.mit.edu	37	11	123900527	123900527	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:123900527C>T	uc001pzp.1	+	1	198	c.198C>T	c.(196-198)TTC>TTT	p.F66F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACCTGTCGTTCATTGACATGT	0.542		NaN											0	0	0	0.01441	0	48	101				
KIRREL3	84623	broad.mit.edu	37	11	126294664	126294664	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:126294664G>T	uc001qea.2	-	17	2509	c.2148C>A	c.(2146-2148)CTC>CTA	p.L716L	KIRREL3_uc001qeb.2_Silent_p.L704L|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	716	Cytoplasmic (Potential).|Ser-rich.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGCTGTCGCTGAGGGAGCCTC	0.632		NaN											1	0	2.27111e-07	0.013537	2.35717e-07	11	27				
ST14	6768	broad.mit.edu	37	11	130058506	130058506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:130058506C>T	uc001qfw.2	+	3	516	c.323C>T	c.(322-324)TCC>TTC	p.S108F	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	108	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TACGAGAACTCCAACTCCACT	0.562		NaN											0	0	0	0.008361	0	23	50				
ST14	6768	broad.mit.edu	37	11	130066275	130066275	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:130066275C>T	uc001qfw.2	+	10	1348	c.1155C>T	c.(1153-1155)TTC>TTT	p.F385F	ST14_uc010sca.1_Silent_p.F195F	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	385	CUB 2.|Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCAAATTCTTCTACCTGCTGG	0.632		NaN											0	0	0	0.006214	0	6	7				
NTM	50863	broad.mit.edu	37	11	132184470	132184470	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:132184470G>A	uc001qgp.2	+	6	1471	c.807G>A	c.(805-807)GTG>GTA	p.V269V	NTM_uc001qgm.2_Silent_p.V269V|NTM_uc010sch.1_Silent_p.V260V|NTM_uc010sci.1_Silent_p.V269V|NTM_uc010scj.1_Silent_p.V228V|NTM_uc001qgo.2_Silent_p.V269V|NTM_uc001qgq.2_Silent_p.V269V|NTM_uc001qgr.2_Silent_p.V51V	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	269	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						AGAAAGGGGTGAAAGTGGAAA	0.433		NaN											0	0	0	0.004672	0	3	22				
C1S	716	broad.mit.edu	37	12	7177945	7177945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:7177945G>A	uc001qsj.2	+	15	2776	c.2057G>A	c.(2056-2058)CGT>CAT	p.R686H	C1S_uc001qsk.2_Missense_Mutation_p.R686H|C1S_uc001qsl.2_Missense_Mutation_p.R686H|C1S_uc009zfr.2_Missense_Mutation_p.R519H|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	686					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGCACCCCCCGTGAGGACTAA	0.483		NaN											0	0	0	0.01441	0	45	71				
C12orf60	144608	broad.mit.edu	37	12	14975926	14975926	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:14975926C>T	uc001rcj.3	+	2	261	c.57C>T	c.(55-57)TTC>TTT	p.F19F		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	19										ovary(1)|central_nervous_system(1)	2						CCAAAATGTTCTTCTTTCATG	0.368		NaN											0	0	0	0.00632	0	27	48				
PLEKHA5	54477	broad.mit.edu	37	12	19427759	19427759	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:19427759C>G	uc001reb.2	+	10	1223	c.1137C>G	c.(1135-1137)GTC>GTG	p.V379V	PLEKHA5_uc010sie.1_Silent_p.V385V|PLEKHA5_uc001rea.2_Silent_p.V379V|PLEKHA5_uc009zin.2_Silent_p.V137V|PLEKHA5_uc010sif.1_Silent_p.V271V|PLEKHA5_uc010sig.1_Silent_p.V271V|PLEKHA5_uc010sih.1_Silent_p.V271V|PLEKHA5_uc001rec.1_Silent_p.V67V	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	379							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACAAAATAGTCAATGTTAGCC	0.468		NaN											0	0	0	0.009535	0	29	60				
CAPRIN2	65981	broad.mit.edu	37	12	30906540	30906540	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:30906540G>A	uc001rji.1	-	1	909	c.158C>T	c.(157-159)TCA>TTA	p.S53L	CAPRIN2_uc001rjg.1_5'Flank|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S53L|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.S53L|CAPRIN2_uc001rjl.3_Missense_Mutation_p.S53L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	53					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGAAACAGATGAGGCTGAAGG	0.463		NaN									OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	46	50				
DENND5B	160518	broad.mit.edu	37	12	31540565	31540565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540565C>T	uc001rki.1	-	21	3983	c.3797G>A	c.(3796-3798)GGA>GAA	p.G1266E	DENND5B_uc001rkh.1_Missense_Mutation_p.G1301E|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1266	RUN 2.					integral to membrane				ovary(1)|central_nervous_system(1)	2						GATGAGTGATCCTTCTAGGAC	0.498		NaN											0	0	0	0.00632	0	20	33				
DENND5B	160518	broad.mit.edu	37	12	31540607	31540607	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540607C>T	uc001rki.1	-	21	3941	c.3755G>A	c.(3754-3756)CGA>CAA	p.R1252Q	DENND5B_uc001rkh.1_Missense_Mutation_p.R1287Q|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1252	RUN 2.					integral to membrane				ovary(1)|central_nervous_system(1)	2						CTGCAGAATTCGGATAAGGGA	0.488		NaN											0	0	0	0.006122	0	16	29				
DENND5B	160518	broad.mit.edu	37	12	31540637	31540637	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540637C>G	uc001rki.1	-	21	3911	c.3725G>C	c.(3724-3726)CGA>CCA	p.R1242P	DENND5B_uc001rkh.1_Missense_Mutation_p.R1277P|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1242	RUN 2.					integral to membrane				ovary(1)|central_nervous_system(1)	2						CATGCGGTCTCGCAGGAGAGC	0.498		NaN											0	0	0	0.00632	0	22	28				
DIP2B	57609	broad.mit.edu	37	12	51072628	51072628	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:51072628G>A	uc001rwv.2	+	8	1239	c.1083G>A	c.(1081-1083)ATG>ATA	p.M361I	DIP2B_uc001rwu.2_Missense_Mutation_p.M361I|DIP2B_uc009zls.1_Missense_Mutation_p.M243I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	361						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						CACTGGACATGACAGGGAAAC	0.468		NaN											0	0	0	0.005524	0	30	56				
KRT6C	286887	broad.mit.edu	37	12	52865237	52865237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:52865237C>T	uc001sal.3	-	4	928	c.880G>A	c.(880-882)GAG>AAG	p.E294K		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	294	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AAGTTGATCTCATCTGTGAGA	0.488		NaN											0	0	0	0.01441	0	42	74				
KRT79	338785	broad.mit.edu	37	12	53227586	53227586	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:53227586G>A	uc001sbb.2	-	1	492	c.459C>T	c.(457-459)TTC>TTT	p.F153F		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	153	Rod.|Coil 1A.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						TGAAGGAGGCGAACTTGTTGT	0.607		NaN											0	0	0	0.01441	0	81	122				
KRT79	338785	broad.mit.edu	37	12	53227664	53227664	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:53227664G>C	uc001sbb.2	-	1	414	c.381C>G	c.(379-381)CTC>CTG	p.L127L		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	127	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						TCTCCACATGGAGGGGGGTCA	0.602		NaN											0	0	0	0.01441	0	46	70				
GDF11	10220	broad.mit.edu	37	12	56137466	56137466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56137466C>G	uc001shq.2	+	1	403	c.366C>G	c.(364-366)GAC>GAG	p.D122E	GDF11_uc010spv.1_Missense_Mutation_p.D122E	NM_005811	NP_005802	O95390	GDF11_HUMAN	growth differentiation factor 11 precursor	122					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			kidney(1)	1						TCCAGGGCGACGCGCTGCAGC	0.667		NaN											0	0	0	0.00632	0	24	19				
DGKA	1606	broad.mit.edu	37	12	56345848	56345848	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56345848C>T	uc001sij.2	+	19	1881	c.1617C>T	c.(1615-1617)ATC>ATT	p.I539I	DGKA_uc001sii.1_Silent_p.I397I|DGKA_uc009zod.1_Silent_p.I458I|DGKA_uc001sik.2_Silent_p.I539I|DGKA_uc001sil.2_Silent_p.I539I|DGKA_uc001sim.2_Silent_p.I539I|DGKA_uc001sin.2_Silent_p.I539I|DGKA_uc009zof.2_Silent_p.I185I|DGKA_uc001sio.2_Silent_p.I281I	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	539					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	GATTCCACATCATGCGAGAGA	0.522		NaN											0	0	0	0.01441	0	73	53				
PAN2	9924	broad.mit.edu	37	12	56717846	56717846	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56717846G>C	uc001skx.2	-	13	2425	c.2052C>G	c.(2050-2052)CTC>CTG	p.L684L	PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Silent_p.L683L|PAN2_uc001sky.2_Silent_p.L684L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	684					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CAGGGTAGGAGAGTGTGAAAA	0.532		NaN											0	0	0	0.01441	0	99	80				
TMBIM4	51643	broad.mit.edu	37	12	66531814	66531814	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:66531814T>C	uc001stc.2	-	7	719	c.643A>G	c.(643-645)ATC>GTC	p.I215V	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.I184V|TMBIM4_uc009zqr.2_Missense_Mutation_p.I262V|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	215	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		TAGAGGCTGATGGCAGCTAAT	0.418		NaN											0	0	0	0.01441	0	35	80				
ATP2B1	490	broad.mit.edu	37	12	89997570	89997570	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:89997570G>C	uc001tbh.2	-	16	2948	c.2767C>G	c.(2767-2769)CTC>GTC	p.L923V	ATP2B1_uc001tbg.2_Missense_Mutation_p.L923V|ATP2B1_uc001tbf.2_Missense_Mutation_p.L593V	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	923	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						CGTGAGATGAGAGGCTTATTT	0.418		NaN											0	0	0	0.01441	0	48	67				
GLT8D2	83468	broad.mit.edu	37	12	104388223	104388223	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:104388223G>A	uc001tkh.1	-	9	1063	c.657C>T	c.(655-657)ATC>ATT	p.I219I	GLT8D2_uc001tki.1_Silent_p.I219I	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	219	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						TGCTGGGGCTGATGCCAAGGT	0.483		NaN											0	0	0	0.013726	0	28	27				
APPL2	55198	broad.mit.edu	37	12	105582222	105582222	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:105582222G>T	uc001tlf.1	-	17	1681	c.1463C>A	c.(1462-1464)TCT>TAT	p.S488Y	APPL2_uc010swt.1_Missense_Mutation_p.S445Y|APPL2_uc001tlg.1_Missense_Mutation_p.S242Y|APPL2_uc010swu.1_Missense_Mutation_p.S494Y|APPL2_uc009zuq.2_Missense_Mutation_p.S445Y	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	488	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						CTGCAAAAGAGAATCTGGAAG	0.418		NaN											1	0	2.37509e-13	0.010504	2.50732e-13	17	20				
MYO1H	283446	broad.mit.edu	37	12	109872912	109872912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:109872912C>T	uc010sxn.1	+	20	2086	c.2086C>T	c.(2086-2088)CAA>TAA	p.Q696*		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0						TAGTAAACATCAACTAGGTAT	0.343		NaN											0	0	0	0.013537	0	10	18				
RBM19	9904	broad.mit.edu	37	12	114392942	114392942	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:114392942G>A	uc009zwi.2	-	7	1059	c.915C>T	c.(913-915)GTC>GTT	p.V305V	RBM19_uc001tvn.3_Silent_p.V305V|RBM19_uc001tvm.2_Silent_p.V305V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	305	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ATACCTCTGTGACATTGAACG	0.572		NaN											0	0	0	0.001168	0	4	155				
FBXO21	23014	broad.mit.edu	37	12	117595695	117595695	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:117595695G>A	uc001twk.2	-	10	1560	c.1521C>T	c.(1519-1521)CTC>CTT	p.L507L	FBXO21_uc001twj.2_Silent_p.L500L|FBXO21_uc009zwq.2_Silent_p.L440L|FBXO21_uc001twl.1_Silent_p.L120L	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	507					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCTTCATAATGAGCCCGATGG	0.562		NaN											0	0	0	0.01441	0	51	65				
WSB2	55884	broad.mit.edu	37	12	118490215	118490215	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:118490215C>G	uc001twr.2	-	2	180	c.82G>C	c.(82-84)GAA>CAA	p.E28Q	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.E28Q	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	28					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCAGGTTTCACAGCTGGAC	0.587		NaN											0	0	0	0.01441	0	78	106				
GPR81	27198	broad.mit.edu	37	12	123214482	123214482	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:123214482G>A	uc001ucz.2	-	1	648	c.405C>T	c.(403-405)ATC>ATT	p.I135I	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	135	Helical; Name=4; (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGTGCAGACGATGCCAGCCG	0.592		NaN											0	0	0	0.01441	0	63	60				
DNAH10	196385	broad.mit.edu	37	12	124415937	124415937	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:124415937C>G	uc001uft.3	+	73	12505	c.12480C>G	c.(12478-12480)CTC>CTG	p.L4160L	DNAH10_uc001ufu.3_Silent_p.L73L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4160					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTTTGGTCTCCACCCCAACG	0.577		NaN											0	0	0	0.004878	0	29	49				
DHX37	57647	broad.mit.edu	37	12	125451375	125451375	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:125451375C>T	uc001ugy.2	-	12	1653	c.1554G>A	c.(1552-1554)AAG>AAA	p.K518K		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	518	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCTTGACTTCTTAAACTTCC	0.537		NaN											0	0	0	0.013114	0	34	58				
ZMYM2	7750	broad.mit.edu	37	13	20608481	20608481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:20608481G>A	uc001umr.2	+	12	2354	c.2056G>A	c.(2056-2058)GAG>AAG	p.E686K	ZMYM2_uc001ums.2_Missense_Mutation_p.E686K|ZMYM2_uc001umt.2_Missense_Mutation_p.E686K|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.E66K|ZMYM2_uc001umw.2_Missense_Mutation_p.E139K	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	686	MYM-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATACTGTCAAGAGGAGAAGAC	0.358		NaN											0	0	0	0.013726	0	30	53				
SACS	26278	broad.mit.edu	37	13	23909330	23909330	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:23909330G>A	uc001uon.2	-	10	9274	c.8685C>T	c.(8683-8685)AAC>AAT	p.N2895N	SACS_uc001uoo.2_Silent_p.N2748N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2895					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACGCCACAGGTTCCTTCTGG	0.433		NaN											0	0	0	0.00623	0	35	28				
SACS	26278	broad.mit.edu	37	13	23915753	23915753	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:23915753G>A	uc001uon.2	-	10	2851	c.2262C>T	c.(2260-2262)TTC>TTT	p.F754F	SACS_uc001uoo.2_Silent_p.F607F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Silent_p.F607F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	754					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGCCAGGCCAGAATGTATTCA	0.373		NaN											0	0	0	0.009718	0	31	52				
C13orf26	122046	broad.mit.edu	37	13	31506889	31506889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:31506889C>T	uc001uti.2	+	1	56	c.37C>T	c.(37-39)CTC>TTC	p.L13F	uc001utg.1_5'Flank	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	hypothetical protein LOC122046	13										ovary(2)|skin(1)	3		Lung SC(185;0.0281)		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)		GGATCCCTCTCTCTGCCACCA	0.672		NaN											0	0	0	0.007413	0	15	22				
RXFP2	122042	broad.mit.edu	37	13	32366994	32366994	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:32366994G>C	uc001utt.2	+	16	1626	c.1555G>C	c.(1555-1557)GAG>CAG	p.E519Q	RXFP2_uc010aba.2_Missense_Mutation_p.E478Q	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	519	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTGACTTTGGAGAAGTTCCT	0.517		NaN											0	0	0	0.003954	0	20	28				
TRPC4	7223	broad.mit.edu	37	13	38225530	38225530	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:38225530C>A	uc001uws.2	-	8	2186	c.1951G>T	c.(1951-1953)GGT>TGT	p.G651C	TRPC4_uc010abv.2_Missense_Mutation_p.G231C|TRPC4_uc001uwt.2_Missense_Mutation_p.G651C|TRPC4_uc010tey.1_Missense_Mutation_p.G651C|TRPC4_uc010abw.2_Missense_Mutation_p.G478C|TRPC4_uc010abx.2_Missense_Mutation_p.G651C|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	651	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCAGAGTACCTCCTTCTTCA	0.433		NaN											1	0	3.13765e-25	0.01441	3.40719e-25	60	47				
UTP14C	9724	broad.mit.edu	37	13	52603133	52603133	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:52603133G>C	uc001vgb.2	+	2	728	c.193G>C	c.(193-195)GAG>CAG	p.E65Q	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	65					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAGAGGTCTGAGGCTAGTCT	0.468		NaN											0	0	0	0.01441	0	74	164				
TBC1D4	9882	broad.mit.edu	37	13	75933988	75933988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:75933988G>A	uc001vjl.1	-	3	1434	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*	TBC1D4_uc010aer.2_Nonsense_Mutation_p.R363*|TBC1D4_uc010aes.2_Nonsense_Mutation_p.R363*	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	363	PID 2.					cytoplasm	Rab GTPase activator activity	p.R363Q(1)		ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATCTCAAATCGCCCAACCTTA	0.274		NaN											0	0	0	0.010729	0	11	38				
MYCBP2	23077	broad.mit.edu	37	13	77667465	77667465	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:77667465T>C	uc001vkf.2	-	60	10179	c.10088A>G	c.(10087-10089)CAT>CGT	p.H3363R	MYCBP2_uc010aev.2_Missense_Mutation_p.H2767R|MYCBP2_uc001vke.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATGATGATGCCTGCATTA	0.358		NaN											0	0	0	0.001984	0	7	127				
DOCK9	23348	broad.mit.edu	37	13	99538841	99538841	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:99538841C>G	uc001vnt.2	-	19	2139	c.2084G>C	c.(2083-2085)AGA>ACA	p.R695T	DOCK9_uc001vnw.2_Missense_Mutation_p.R694T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R695T|DOCK9_uc010tis.1_Missense_Mutation_p.R694T|DOCK9_uc010tit.1_Missense_Mutation_p.R695T|DOCK9_uc010afu.1_Missense_Mutation_p.R510T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	695	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAGGCGCTTCTTGTGAAAAC	0.383		NaN											0	0	0	0.007413	0	13	15				
ARHGEF7	8874	broad.mit.edu	37	13	111929934	111929934	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:111929934G>A	uc001vrs.2	+	14	1733	c.1483G>A	c.(1483-1485)GAA>AAA	p.E495K	ARHGEF7_uc001vrr.2_Missense_Mutation_p.E474K|ARHGEF7_uc001vrt.2_Missense_Mutation_p.E445K|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.E317K|ARHGEF7_uc001vrv.3_Missense_Mutation_p.E317K|ARHGEF7_uc001vrw.3_Missense_Mutation_p.E317K|ARHGEF7_uc001vrx.3_Missense_Mutation_p.E317K|ARHGEF7_uc010tjo.1_Missense_Mutation_p.E392K|ARHGEF7_uc010tjp.1_Missense_Mutation_p.E239K	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	495	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTTGTATTAGGAAAAGAATGA	0.313		NaN											0	0	0	0.008291	0	9	19				
TMEM63C	57156	broad.mit.edu	37	14	77709324	77709324	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:77709324C>G	uc001xtf.2	+	15	1478	c.1266C>G	c.(1264-1266)TTC>TTG	p.F422L	TMEM63C_uc010asq.1_Missense_Mutation_p.F422L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	422	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCTCTTCTTCTTTCTCACCA	0.552		NaN											0	0	0	0.010504	0	19	31				
SPTLC2	9517	broad.mit.edu	37	14	77984460	77984460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:77984460C>G	uc001xub.2	-	11	1678	c.1490G>C	c.(1489-1491)GGA>GCA	p.G497A		NM_004863	NP_004854	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base	497						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCAGGAAATCCAACCACAAC	0.483		NaN											0	0	0	0.004656	0	25	41				
TDP1	55775	broad.mit.edu	37	14	90437609	90437609	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:90437609C>T	uc001xxy.2	+	6	1049	c.750C>T	c.(748-750)CTC>CTT	p.L250L	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.L250L|TDP1_uc010atn.2_Silent_p.L250L|TDP1_uc001xya.2_Missense_Mutation_p.S23F|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.L250L	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	250					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACATCTCTCTCTGCCAGGTAA	0.378		NaN						Repair_of_DNA-protein_crosslinks					0	0	0	0.01441	0	41	29				
SERPINA11	256394	broad.mit.edu	37	14	94914896	94914896	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:94914896G>A	uc001ydd.1	-	2	276	c.216C>T	c.(214-216)AAC>AAT	p.N72N		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	72					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		AGAAGAAGATGTTTCCGGGGG	0.567		NaN											0	0	0	0.01441	0	82	107				
PAPOLA	10914	broad.mit.edu	37	14	96991650	96991650	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:96991650C>G	uc001yfq.2	+	4	463	c.253C>G	c.(253-255)CTT>GTT	p.L85V	PAPOLA_uc001yfo.2_Missense_Mutation_p.L85V|PAPOLA_uc001yfp.2_Missense_Mutation_p.L85V|PAPOLA_uc001yfr.2_Missense_Mutation_p.L85V|PAPOLA_uc010twv.1_Missense_Mutation_p.L85V|PAPOLA_uc010avp.2_Translation_Start_Site	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	85					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAACAGAATCTTCCACAATC	0.333		NaN											0	0	0	0.010504	0	15	31				
RTL1	388015	broad.mit.edu	37	14	101349286	101349286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:101349286C>T	uc010txj.1	-	1	1899	c.1840G>A	c.(1840-1842)GCG>ACG	p.A614T	uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	614										pancreas(1)	1						TCCCAAGGCGCGGTGGAGGGA	0.552		NaN											0	0	0	0.010729	0	11	29				
WDR20	91833	broad.mit.edu	37	14	102606455	102606455	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:102606455C>G	uc001ykz.2	+	1	244	c.195C>G	c.(193-195)CTC>CTG	p.L65L	WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_5'UTR|WDR20_uc001ylb.2_Silent_p.L65L|WDR20_uc010txu.1_Silent_p.L65L|WDR20_uc001ylc.2_Silent_p.L65L|WDR20_uc001yld.2_Silent_p.L65L|WDR20_uc001yle.2_Silent_p.L65L|WDR20_uc001ylf.2_Silent_p.L65L|HSP90AA1_uc001ykv.3_5'Flank	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	65											0						GCGACCGCCTCTGCTTCAATG	0.637		NaN											0	0	0	0.007291	0	25	25				
SLC12A6	9990	broad.mit.edu	37	15	34544565	34544565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:34544565C>T	uc001zhw.2	-	9	1303	c.1139G>A	c.(1138-1140)CGC>CAC	p.R380H	SLC12A6_uc001zhv.2_Missense_Mutation_p.R329H|SLC12A6_uc001zhx.2_Missense_Mutation_p.R365H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R321H|SLC12A6_uc001zib.2_Missense_Mutation_p.R371H|SLC12A6_uc001zic.2_Missense_Mutation_p.R380H|SLC12A6_uc010bau.2_Missense_Mutation_p.R380H|SLC12A6_uc001zid.2_Missense_Mutation_p.R321H|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.R192H	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	380	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGAAAGGGTGCGGTTACCCAG	0.383		NaN											0	0	0	0.007291	0	23	40				
OIP5	11339	broad.mit.edu	37	15	41624731	41624731	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:41624731G>C	uc001znp.2	-	1	89	c.29C>G	c.(28-30)TCA>TGA	p.S10*	NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank	NM_007280	NP_009211	O43482	MS18B_HUMAN	Opa interacting protein 5	10					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCACAACGTGAGCGATGCCG	0.637		NaN											0	0	0	0.01441	0	59	62				
RTF1	23168	broad.mit.edu	37	15	41763545	41763545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:41763545C>T	uc001zny.2	+	8	1213	c.1201C>T	c.(1201-1203)CGG>TGG	p.R401W		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	401	Plus3.			R->E: Loss of binding to single-stranded DNA.	histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACCAGTTTACCGGGTTGGTAT	0.443		NaN											0	0	0	0.007291	0	27	31				
PDIA3	2923	broad.mit.edu	37	15	44057680	44057680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:44057680C>G	uc001zsu.2	+	6	783	c.635C>G	c.(634-636)ACT>AGT	p.T212S	PDIA3_uc010bdp.2_Missense_Mutation_p.T192S|PDIA3_uc010ued.1_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	212					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TCACATCTCACTAACAAGTTT	0.348		NaN											0	0	0	0.005524	0	33	46				
SLC27A2	11001	broad.mit.edu	37	15	50519256	50519256	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:50519256G>C	uc001zxw.2	+	7	1570	c.1338G>C	c.(1336-1338)GAG>GAC	p.E446D	SLC27A2_uc010bes.2_Missense_Mutation_p.E393D|SLC27A2_uc001zxx.2_Missense_Mutation_p.E211D	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	446	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTCAGACAGAGAAGAAAAAAC	0.383		NaN											0	0	0	0.008291	0	10	13				
TMOD2	29767	broad.mit.edu	37	15	52090495	52090495	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:52090495G>A	uc002abk.2	+	8	1055	c.834G>A	c.(832-834)CTG>CTA	p.L278L	TMOD2_uc002abl.3_Silent_p.L242L|TMOD2_uc010bfb.2_Silent_p.L234L	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	278					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		TAGAGGCACTGAAAGAAAATG	0.453		NaN											0	0	0	0.013537	0	9	22				
HERC1	8925	broad.mit.edu	37	15	64048748	64048748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:64048748G>A	uc002amp.2	-	5	1569	c.1421C>T	c.(1420-1422)ACG>ATG	p.T474M	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.T474M	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	474	WD 1.|RCC1 2.				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						TCCTTCTGTCGTAAAGGCTAA	0.393		NaN											0	0	0	0.012213	0	31	29				
DENND4A	10260	broad.mit.edu	37	15	65982875	65982875	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:65982875C>G	uc002aph.2	-	22	4303	c.3925G>C	c.(3925-3927)GAT>CAT	p.D1309H	DENND4A_uc002api.2_Missense_Mutation_p.D1352H|DENND4A_uc002apj.3_Missense_Mutation_p.D1309H	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						AGTAGTGTATCTAAGTTAAAT	0.398		NaN											0	0	0	0.010818	0	23	32				
ITGA11	22801	broad.mit.edu	37	15	68649618	68649618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:68649618C>G	uc002ari.2	-	7	707	c.620G>C	c.(619-621)GGC>GCC	p.G207A	ITGA11_uc010bib.2_Missense_Mutation_p.G207A	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	207	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CACATCTTCGCCATACTGCAC	0.507		NaN											0	0	0	0.01441	0	43	59				
SIN3A	25942	broad.mit.edu	37	15	75668200	75668200	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75668200T>C	uc002bai.2	-	20	3656	c.3397A>G	c.(3397-3399)ATC>GTC	p.I1133V	SIN3A_uc002baj.2_Missense_Mutation_p.I1133V|SIN3A_uc010uml.1_Missense_Mutation_p.I1133V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1133					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CACTTCCGGATCCGCCGTAGA	0.493		NaN											0	0	0	0.01441	0	19	95				
SIN3A	25942	broad.mit.edu	37	15	75676654	75676654	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75676654G>T	uc002bai.2	-	17	3405	c.3146C>A	c.(3145-3147)ACG>AAG	p.T1049K	SIN3A_uc002baj.2_Missense_Mutation_p.T1049K|SIN3A_uc010uml.1_Missense_Mutation_p.T1049K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1049					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						CCGCTGATACGTTGACTCCAG	0.493		NaN											1	0	4.1943e-16	0.008291	4.44686e-16	8	144				
PTPN9	5780	broad.mit.edu	37	15	75798201	75798201	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75798201G>A	uc002bal.2	-	7	1291	c.783C>T	c.(781-783)TTC>TTT	p.F261F		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	261						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						TGATCTCATCGAAGGGATCTG	0.527		NaN											0	0	0	0.005443	0	23	46				
ACAN	176	broad.mit.edu	37	15	89398558	89398558	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:89398558G>A	uc010upo.1	+	12	3116	c.2742G>A	c.(2740-2742)GTG>GTA	p.V914V	ACAN_uc010upp.1_Silent_p.V914V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	914					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCTGCCTGTGGAAAGTGGAC	0.587		NaN											0	0	0	0.003163	0	12	16				
IQGAP1	8826	broad.mit.edu	37	15	91025471	91025471	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:91025471G>A	uc002bpl.1	+	28	3614	c.3513G>A	c.(3511-3513)TTG>TTA	p.L1171L		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1171	Ras-GAP.|C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGACTCGTTGCATGAGAAGT	0.502		NaN									OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.01441	0	41	65				
CHTF18	63922	broad.mit.edu	37	16	847068	847068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:847068G>C	uc002cke.3	+	20	2772	c.2709G>C	c.(2707-2709)ATG>ATC	p.M903I	CHTF18_uc002ckf.3_Missense_Mutation_p.M931I|CHTF18_uc010brf.2_Missense_Mutation_p.M485I|CHTF18_uc002ckg.3_Missense_Mutation_p.M421I	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	903					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				AGCACATCATGAGGCGAGCGG	0.672		NaN											0	0	0	0.01441	0	43	48				
TPSAB1	7177	broad.mit.edu	37	16	1291238	1291238	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:1291238G>C	uc002ckz.2	+	3	198	c.146G>C	c.(145-147)AGA>ACA	p.R49T	TPSAB1_uc010uux.1_5'UTR	NM_003294	NP_003285	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1 precursor	49	Peptidase S1.				defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GTGAGCCTGAGAGTCCACGGC	0.706		NaN											0	0	0	0.010818	0	27	55				
SYNGR3	9143	broad.mit.edu	37	16	2042986	2042986	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:2042986C>T	uc002cod.2	+	4	739	c.603C>T	c.(601-603)GGC>GGT	p.G201G		NM_004209	NP_004200	O43761	SNG3_HUMAN	synaptogyrin 3	201					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle					0						TGGGCAGCGGCGTGGAGGGCA	0.692		NaN											0	0	0	0.008871	0	13	26				
ZNF200	7752	broad.mit.edu	37	16	3274554	3274554	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:3274554C>G	uc002cuj.2	-	5	1158	c.526G>C	c.(526-528)GAT>CAT	p.D176H	ZNF200_uc002cum.3_Missense_Mutation_p.D175H|ZNF200_uc010bti.2_Missense_Mutation_p.D175H|ZNF200_uc002cuk.2_Missense_Mutation_p.D176H|ZNF200_uc002cui.2_Missense_Mutation_p.D175H|ZNF200_uc002cul.3_Missense_Mutation_p.D175H	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TCTCTATAATCTTCATTTTCT	0.398		NaN											0	0	0	0.004672	0	3	41				
PPL	5493	broad.mit.edu	37	16	4938143	4938143	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:4938143C>T	uc002cyd.1	-	20	2564	c.2474G>A	c.(2473-2475)AGA>AAA	p.R825K		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	825	Spectrin 4.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GAGCCTGGCTCTCTTGCTCAC	0.562		NaN											0	0	0	0.01441	0	41	41				
NOMO1	23420	broad.mit.edu	37	16	14969017	14969017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:14969017G>A	uc002dcv.2	+	19	2245	c.2179G>A	c.(2179-2181)GAG>AAG	p.E727K		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	727	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						AAACGGCAATGAGGAAGGCGA	0.567		NaN											0	0	0	0.01441	0	78	169				
DNAH3	55567	broad.mit.edu	37	16	20990840	20990840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:20990840C>G	uc010vbe.1	-	50	7888	c.7888G>C	c.(7888-7890)GAG>CAG	p.E2630Q	DNAH3_uc010vbd.1_Missense_Mutation_p.E65Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2630	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TTGACGCTCTCTTGGAAATAT	0.463		NaN											0	0	0	0.01441	0	42	51				
ITGAX	3687	broad.mit.edu	37	16	31383090	31383090	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:31383090C>T	uc002ebu.1	+	17	2212	c.2145C>T	c.(2143-2145)TTC>TTT	p.F715F	ITGAX_uc002ebt.2_Silent_p.F715F	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	715	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GTGAAAACTTCAACCTGCTGC	0.542		NaN											0	0	0	0.003271	0	24	35				
DYNC1LI2	1783	broad.mit.edu	37	16	66766331	66766331	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:66766331G>C	uc002eqb.1	-	7	871	c.840C>G	c.(838-840)CTC>CTG	p.L280L	DYNC1LI2_uc010vis.1_Silent_p.L203L|DYNC1LI2_uc010vit.1_Silent_p.L280L|DYNC1LI2_uc010viu.1_Silent_p.L241L	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	280					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ACAACAAGTCGAGGTTTTTCT	0.373		NaN											0	0	0	0.008291	0	10	23				
TMEM231	79583	broad.mit.edu	37	16	75579280	75579280	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:75579280C>T	uc002fem.2	-	4	615	c.552G>A	c.(550-552)CTG>CTA	p.L184L	CHST5_uc002fej.1_5'UTR|TMEM231_uc002fek.2_Silent_p.L213L|TMEM231_uc002fel.2_Silent_p.L68L|TMEM231_uc010vne.1_Silent_p.L37L|TMEM231_uc010cgx.1_Silent_p.L148L	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN	transmembrane protein 231 isoform 2	184						integral to membrane					0						CACCACAGCTCAGCGGCTGCT	0.517		NaN											0	0	0	0.01441	0	46	72				
USP10	9100	broad.mit.edu	37	16	84778635	84778635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:84778635C>T	uc002fii.2	+	4	690	c.548C>T	c.(547-549)TCA>TTA	p.S183L	USP10_uc010voe.1_Missense_Mutation_p.S187L|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	183					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						CATGCCAATTCAGCAGTCCCG	0.498		NaN											0	0	0	0.01441	0	35	38				
FOXF1	2294	broad.mit.edu	37	16	86544388	86544388	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:86544388G>A	uc002fjl.2	+	1	256	c.213G>A	c.(211-213)CTG>CTA	p.L71L	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	71	Fork-head.				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding				0						GCCTGACGCTGAGCGAGATCT	0.627		NaN											0	0	0	0.013114	0	37	27				
OR3A2	4995	broad.mit.edu	37	17	3181494	3181494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:3181494C>T	uc002fvg.2	-	1	775	c.736G>A	c.(736-738)GCC>ACC	p.A246T		NM_002551	NP_002542	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A,	246	Cytoplasmic (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GTGGAGAAGGCCTTCTTTCGG	0.517		NaN											0	0	0	0.001855	0	10	16				
CHD3	1107	broad.mit.edu	37	17	7797534	7797534	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:7797534C>T	uc002gje.2	+	7	1176	c.1026C>T	c.(1024-1026)GTC>GTT	p.V342V	CHD3_uc002gjd.2_Silent_p.V401V|CHD3_uc002gjf.2_Silent_p.V342V|CHD3_uc002gjg.1_Silent_p.V170V	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	342					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				ATGGCCCTGTCCGCACCAAGA	0.557		NaN											0	0	0	0.007413	0	20	4				
UBB	7314	broad.mit.edu	37	17	16285453	16285453	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:16285453C>A	uc002gpx.2	+	2	370	c.232C>A	c.(232-234)CAG>AAG	p.Q78K	UBB_uc010vwe.1_Intron	NM_018955	NP_061828	P0CG47	UBB_HUMAN	ubiquitin B precursor	78	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGTGGTATGCAGATCTTCGT	0.537		NaN											1	0	6.4e-05	0.004672	6.57333e-05	3	41				
UBB	7314	broad.mit.edu	37	17	16285681	16285681	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:16285681C>A	uc002gpx.2	+	2	598	c.460C>A	c.(460-462)CAG>AAG	p.Q154K	UBB_uc010vwe.1_Missense_Mutation_p.Q78K	NM_018955	NP_061828	P0CG47	UBB_HUMAN	ubiquitin B precursor	154	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGTGGTATGCAGATCTTCGT	0.537		NaN											1	0	6.4e-05	0.004672	6.57333e-05	3	47				
KCNJ12	3768	broad.mit.edu	37	17	21319000	21319000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:21319000G>A	uc002gyv.1	+	3	1051	c.346G>A	c.(346-348)GAG>AAG	p.E116K		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	116	Extracellular (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)	GGAGCCGGCTGAGGGCCGGGG	0.647		NaN								Prostate(3;0.18)			0	0	0	0.00499	0	13	46				
GIT1	28964	broad.mit.edu	37	17	27903633	27903633	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27903633C>T	uc002hef.2	-	13	1501	c.1287G>A	c.(1285-1287)CTG>CTA	p.L429L	GIT1_uc002heg.2_Silent_p.L438L|GIT1_uc010wbg.1_Silent_p.L438L|GIT1_uc010csb.1_Silent_p.L429L	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	429					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGGCCTTCTTCAGCTCCAGGT	0.617		NaN											0	0	0	0.005443	0	25	30				
CORO6	84940	broad.mit.edu	37	17	27946116	27946116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27946116G>C	uc002hel.2	-	3	415	c.413C>G	c.(412-414)TCC>TGC	p.S138C	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	138	WD 2.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						AGGGTGCCAGGAGAGGATGCC	0.597		NaN											0	0	0	0.003954	0	26	31				
LYZL6	57151	broad.mit.edu	37	17	34261801	34261801	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34261801C>T	uc002hkj.1	-	4	596	c.446G>A	c.(445-447)TGA>TAA	p.*149*	LYZL6_uc002hkk.1_Silent_p.*149*	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	149					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACCCTGTTTCATCTCAGGCG	0.512		NaN											0	0	0	0.01441	0	40	53				
TBC1D3B	414059	broad.mit.edu	37	17	34499268	34499268	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34499268T>C	uc002hky.2	-	7	593	c.443A>G	c.(442-444)GAC>GGC	p.D148G	uc002hla.1_5'Flank|uc002hlc.2_5'Flank	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	148	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCGCTTATGTCCCGGTCGAT	0.547		NaN											0	0	0	0.01441	0	24	358				
GGNBP2	79893	broad.mit.edu	37	17	34910697	34910697	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34910697G>A	uc002hnb.2	+	3	379	c.130G>A	c.(130-132)GAT>AAT	p.D44N	GGNBP2_uc002hna.2_Missense_Mutation_p.D44N	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	44					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTTAAATCTCGATGGACATCA	0.348		NaN											0	0	0	0.01441	0	69	94				
PIP4K2B	8396	broad.mit.edu	37	17	36955630	36955630	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:36955630G>C	uc002hqs.2	-	1	529	c.48C>G	c.(46-48)CTC>CTG	p.L16L	PIP4K2B_uc010wdt.1_Silent_p.L16L	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	16					cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						TGCTGGCGCTGAGCGGCGCCA	0.557		NaN											0	0	0	0.004007	0	14	20				
MED1	5469	broad.mit.edu	37	17	37564544	37564544	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:37564544C>T	uc002hrv.3	-	17	4142	c.3930G>A	c.(3928-3930)CTG>CTA	p.L1310L	MED1_uc010wee.1_Silent_p.L1138L|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1310	Ser-rich.|Interaction with TP53.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCCCATGCTTCAGTTTATCTA	0.522		NaN								HNSCC(31;0.082)			0	0	0	0.01441	0	44	61				
ERBB2	2064	broad.mit.edu	37	17	37879820	37879820	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:37879820G>A	uc002hso.2	+	18	2353	c.2115G>A	c.(2113-2115)GCG>GCA	p.A705A	ERBB2_uc002hsm.2_Silent_p.A675A|ERBB2_uc010cwa.2_Silent_p.A690A|ERBB2_uc002hsp.2_Silent_p.A508A|ERBB2_uc010cwb.2_Silent_p.A705A|ERBB2_uc010wek.1_Silent_p.A429A	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	705	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTAGCGGAGCGATGCCCAACC	0.652		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			0	0	0	0.00308	0	6	8				
RAPGEFL1	51195	broad.mit.edu	37	17	38345517	38345517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:38345517C>T	uc010cwu.1	+	6	876	c.386C>T	c.(385-387)TCA>TTA	p.S129L	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.S65L	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	335					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGCCGCCTTTCAGCATCTGTG	0.537		NaN											0	0	0	0.006214	0	9	246				
KRT20	54474	broad.mit.edu	37	17	39041067	39041067	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:39041067A>G	uc002hvl.2	-	1	413	c.371T>C	c.(370-372)ATT>ACT	p.I124T		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	124	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				CAGCTCTTCAATTTGTCTGTA	0.458		NaN											0	0	0	0.01441	0	38	58				
STAT5B	6777	broad.mit.edu	37	17	40370258	40370258	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:40370258C>T	uc002hzh.2	-	9	1249	c.1080G>A	c.(1078-1080)CTG>CTA	p.L360L	STAT5B_uc002hzi.3_Silent_p.L360L	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	360					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGTGCACGTTCAGCTTCCCGC	0.577		NaN											0	0	0	0.000602	0	5	105				
NBR1	4077	broad.mit.edu	37	17	41345231	41345231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:41345231G>A	uc010czd.2	+	11	1334	c.1194G>A	c.(1192-1194)ATG>ATA	p.M398I	NBR1_uc010diz.2_Missense_Mutation_p.M398I|NBR1_uc010whu.1_Missense_Mutation_p.M398I|NBR1_uc010whv.1_Missense_Mutation_p.M398I|NBR1_uc010whw.1_Missense_Mutation_p.M377I|NBR1_uc010whx.1_Missense_Mutation_p.M207I	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	398					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACTGGAGGATGAAAAATACAG	0.443		NaN											0	0	0	0.006214	0	9	21				
ETV4	2118	broad.mit.edu	37	17	41606896	41606896	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:41606896C>T	uc002idw.2	-	11	1232	c.1104G>A	c.(1102-1104)GAG>GAA	p.E368E	ETV4_uc002idv.2_Silent_p.E91E|ETV4_uc010wih.1_Silent_p.E314E|ETV4_uc010czh.2_Silent_p.E367E|ETV4_uc010wii.1_Silent_p.E329E|ETV4_uc002idx.2_Silent_p.E368E|ETV4_uc010wij.1_Silent_p.E329E	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	368	ETS.				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)|ovary(1)	7		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TGAGCTTGAACTCCATTCCCC	0.587		NaN	T	EWSR1|TMPRSS2|DDX5|KLK2|CANT1	Ewing sarcoma|Prostate carcinoma								0	0	0	0.008361	0	28	38				
CRHR1	1394	broad.mit.edu	37	17	43912040	43912040	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:43912040G>A	uc010dap.2	+	14	1510	c.1245G>A	c.(1243-1245)TCG>TCA	p.S415S	CRHR1_uc010wjx.1_Silent_p.S211S|CRHR1_uc002ijp.2_Missense_Mutation_p.R240Q|CRHR1_uc002ijm.2_Silent_p.S386S|CRHR1_uc002ijn.2_Silent_p.S346S|CRHR1_uc010dar.2_Silent_p.S372S|CRHR1_uc010dao.2_Silent_p.S285S|CRHR1_uc010daq.2_Silent_p.S211S	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	415	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAAGCACTCGATCCGTGCCC	0.637		NaN											0	0	0	0.01441	0	55	58				
FAM117A	81558	broad.mit.edu	37	17	47797711	47797711	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:47797711G>C	uc002ipk.2	-	4	619	c.550C>G	c.(550-552)CAC>GAC	p.H184D	FAM117A_uc010wlz.1_5'UTR	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	184										ovary(1)	1						CGCACTGCGTGGTCCCCTAGG	0.587		NaN											0	0	0	0.01441	0	50	99				
ITGA3	3675	broad.mit.edu	37	17	48133990	48133990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48133990G>A	uc010dbl.2	+	1	651	c.187G>A	c.(187-189)GAG>AAG	p.E63K	ITGA3_uc010dbm.2_Missense_Mutation_p.E63K	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	63	FG-GAP 1.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TCGGCAGACAGAGCGGCAGCA	0.662		NaN											0	0	0	0.00499	0	12	17				
ABCC3	8714	broad.mit.edu	37	17	48750918	48750918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48750918G>A	uc002isl.2	+	19	2578	c.2498G>A	c.(2497-2499)GGC>GAC	p.G833D		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	833	ABC transporter 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCTGAGATGGGCCCGTACCCA	0.602		NaN											0	0	0	0.007291	0	27	120				
ANKRD40	91369	broad.mit.edu	37	17	48784970	48784970	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48784970C>T	uc002iso.2	-	1	301	c.46G>A	c.(46-48)GAG>AAG	p.E16K		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	16	ANK 1.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GCCGCGGCCTCCCGCAGCCTC	0.493		NaN											0	0	0	0.01441	0	65	114				
GDPD1	284161	broad.mit.edu	37	17	57335175	57335175	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:57335175G>C	uc002ixk.1	+	6	687	c.550G>C	c.(550-552)GAA>CAA	p.E184Q	GDPD1_uc002ixj.2_Missense_Mutation_p.E184Q	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain	184	Cytoplasmic (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGCCAATTATGAAATTGTAGA	0.323		NaN											0	0	0	0.01441	0	40	54				
INTS2	57508	broad.mit.edu	37	17	59981823	59981823	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:59981823G>A	uc002izn.2	-	9	1405	c.1329C>T	c.(1327-1329)GTC>GTT	p.V443V	INTS2_uc002izm.2_Silent_p.V435V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	443	Helical; (Potential).				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TTAGGTACCTGACAAGTGTAG	0.388		NaN											0	0	0	0.000602	0	3	5				
WIPI1	55062	broad.mit.edu	37	17	66430741	66430741	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:66430741G>A	uc010dey.2	-	7	739	c.648C>T	c.(646-648)GTC>GTT	p.V216V	WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Silent_p.V134V|WIPI1_uc002jhe.3_RNA	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	216	WD 1.				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding				0						GCCCATCAGGGACAGAGAACA	0.488		NaN											0	0	0	0.009535	0	24	36				
ABCA5	23461	broad.mit.edu	37	17	67255906	67255906	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:67255906G>C	uc002jif.2	-	27	4890	c.3672C>G	c.(3670-3672)CTC>CTG	p.L1224L	ABCA5_uc002jib.2_Silent_p.L190L|ABCA5_uc002jic.2_Silent_p.L447L|ABCA5_uc002jid.2_Silent_p.L141L|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.L1224L	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1224	Helical; (Potential).				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					AGTATTGTAAGAGGAAAATCC	0.269		NaN											0	0	0	0.00632	0	21	39				
COG1	9382	broad.mit.edu	37	17	71197795	71197795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:71197795C>T	uc002jjg.2	+	7	1865	c.1829C>T	c.(1828-1830)TCA>TTA	p.S610L	COG1_uc002jjh.2_Missense_Mutation_p.S610L|COG1_uc002jjf.1_Missense_Mutation_p.S610L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	610					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGCTGCACTCAGTTCTTTTC	0.552		NaN											0	0	0	0.010504	0	20	27				
ITGB4	3691	broad.mit.edu	37	17	73749862	73749862	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:73749862C>G	uc002jpg.2	+	33	4312	c.4125C>G	c.(4123-4125)TTC>TTG	p.F1375L	ITGB4_uc002jph.2_Intron|ITGB4_uc002jpi.3_Intron|ITGB4_uc002jpj.2_Intron|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1375	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGAAGTTCGAGCCCCTGC	0.657		NaN											0	0	0	0.012319	0	14	15				
GALK1	2584	broad.mit.edu	37	17	73759154	73759154	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:73759154G>A	uc010wsi.1	-	4	615	c.552C>T	c.(550-552)ATC>ATT	p.I184I	GALK1_uc002jpk.2_Silent_p.I184I|GALK1_uc010wsj.1_3'UTR	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	184			I -> M.		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGTCCATGATGCCACAGG	0.632		NaN											0	0	0	0.01441	0	42	64				
AZI1	22994	broad.mit.edu	37	17	79170817	79170817	+	Silent	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:79170817C>A	uc002jzp.1	-	14	1895	c.1695G>T	c.(1693-1695)CTG>CTT	p.L565L	AZI1_uc002jzm.1_5'UTR|AZI1_uc002jzn.1_Silent_p.L562L|AZI1_uc002jzo.1_Silent_p.L562L|AZI1_uc010wum.1_Silent_p.L565L|AZI1_uc002jzq.2_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	565					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTCGGACCCCAGCTCCAGGG	0.692		NaN											1	0	3.09899e-07	0.004482	3.20966e-07	7	6				
LRRC45	201255	broad.mit.edu	37	17	79988565	79988565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:79988565G>A	uc002kde.2	+	17	2137	c.1897G>A	c.(1897-1899)GAG>AAG	p.E633K	RAC3_uc002kdf.2_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	633	Potential.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGCTCCGGGAGGCGGAGAT	0.697		NaN											0	0	0	0.00308	0	7	3				
FOXK2	3607	broad.mit.edu	37	17	80478010	80478010	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:80478010C>T	uc002kfn.2	+	1	417	c.246C>T	c.(244-246)ATC>ATT	p.I82I	FOXK2_uc002kfm.1_Silent_p.I82I|FOXK2_uc010diu.2_Silent_p.I82I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	82	FHA.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).	embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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				0	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACCTCGAGATCTTCAcgcccc	0.383		NaN											0	0	0	0.012213	0	27	20				
ST8SIA5	29906	broad.mit.edu	37	18	44260398	44260398	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:44260398C>T	uc002lcj.1	-	7	1306	c.738G>A	c.(736-738)CTG>CTA	p.L246L	ST8SIA5_uc002lci.1_Silent_p.L93L|ST8SIA5_uc010xcy.1_Silent_p.L282L|ST8SIA5_uc010xcz.1_Silent_p.L215L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	246	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						AGAAGGCAGGCAGCAGCACCG	0.607		NaN											0	0	0	0.00308	0	7	15				
ZBTB7C	201501	broad.mit.edu	37	18	45556270	45556270	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:45556270C>T	uc002lda.2	-	2	1237	c.1221G>A	c.(1219-1221)CTG>CTA	p.L407L	ZBTB7C_uc002ldb.2_Silent_p.L407L|ZBTB7C_uc010dnu.2_Silent_p.L416L|ZBTB7C_uc010dnv.2_Silent_p.L429L|ZBTB7C_uc010dnw.2_Silent_p.L407L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	407	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TGTGGATTTTCAGCTTGTCCT	0.577		NaN											0	0	0	0.00245	0	14	40				
KIAA1468	57614	broad.mit.edu	37	18	59954630	59954630	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:59954630G>A	uc002lil.2	+	26	3515	c.3300G>A	c.(3298-3300)CAG>CAA	p.Q1100Q	KIAA1468_uc010xel.1_Silent_p.Q1100Q|KIAA1468_uc002lim.2_Silent_p.Q778Q	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	1100							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				ACAACTTACAGATTGTGGATT	0.348		NaN											0	0	0	0.011902	0	39	24				
NETO1	81832	broad.mit.edu	37	18	70417577	70417577	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:70417577G>A	uc002lkw.2	-	9	1545	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	NETO1_uc002lkx.1_Missense_Mutation_p.R420W|NETO1_uc002lky.1_Missense_Mutation_p.R421W	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	421	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATGACCTCCGCAGTTTATGG	0.458		NaN											0	0	0	0.008871	0	16	9				
CELF5	60680	broad.mit.edu	37	19	3275921	3275921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3275921C>G	uc002lxm.2	+	4	499	c.462C>G	c.(460-462)TTC>TTG	p.F154L	CELF5_uc002lxl.1_Missense_Mutation_p.F154L|CELF5_uc010dtj.1_Missense_Mutation_p.F154L|CELF5_uc010xhg.1_Missense_Mutation_p.F40L|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	154	RRM 2.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						TGCGGCTGTTCCAGCCCTTCG	0.552		NaN											0	0	0	0.01441	0	37	27				
ZFR2	23217	broad.mit.edu	37	19	3816707	3816707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3816707G>A	uc002lyw.2	-	13	2080	c.2068C>T	c.(2068-2070)CGG>TGG	p.R690W		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	690						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCGATCCTCCGCAGCAGGCTG	0.687		NaN											0	0	0	0.009096	0	3	35				
ITGB1BP3	27231	broad.mit.edu	37	19	3938612	3938612	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3938612C>T	uc002lyz.3	+	5	468	c.178C>T	c.(178-180)CTG>TTG	p.L60L	ITGB1BP3_uc010xia.1_Silent_p.L65L	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	60					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGAGTCTCTGGACATGGA	0.682		NaN											0	0	0	0.006122	0	15	22				
SNAPC2	6618	broad.mit.edu	37	19	7986331	7986331	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:7986331C>G	uc002miw.1	+	2	230	c.207C>G	c.(205-207)CTC>CTG	p.L69L	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	69					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						TCCAGCAGCTCAAGGGCCGCG	0.622		NaN											0	0	0	0.003755	0	27	38				
ADAMTS10	81794	broad.mit.edu	37	19	8665898	8665898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:8665898C>G	uc002mkj.1	-	6	998	c.724G>C	c.(724-726)GAG>CAG	p.E242Q	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	242	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						ACCAGGGTCTCCACGTAGCGC	0.622		NaN											0	0	0	0.01441	0	45	60				
MUC16	94025	broad.mit.edu	37	19	9082528	9082528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9082528G>T	uc002mkp.2	-	1	9491	c.9287C>A	c.(9286-9288)TCA>TAA	p.S3096*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3097	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						GGTCTGGCTTGAGGTTAACTC	0.478		NaN											1	0	4.03479e-65	0.01441	4.44007e-65	82	73				
MUC16	94025	broad.mit.edu	37	19	9082810	9082810	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9082810G>A	uc002mkp.2	-	1	9209	c.9005C>T	c.(9004-9006)TCA>TTA	p.S3002L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3003	Ser-rich.|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						TGTCATAGCTGATGATGCCTT	0.507		NaN											0	0	0	0.01441	0	50	55				
MUC16	94025	broad.mit.edu	37	19	9083056	9083056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9083056G>A	uc002mkp.2	-	1	8963	c.8759C>T	c.(8758-8760)TCA>TTA	p.S2920L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2921	Ser-rich.|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						GCTTGCATCTGAGTCTGGAAT	0.463		NaN											0	0	0	0.00333	0	22	17				
ZNF559	84527	broad.mit.edu	37	19	9453579	9453579	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9453579G>T	uc002mlg.2	+	7	2099	c.1452G>T	c.(1450-1452)ATG>ATT	p.M484I	ZNF559_uc002mlf.2_Missense_Mutation_p.M253I|ZNF559_uc010dwl.1_Missense_Mutation_p.M253I|ZNF559_uc010xkn.1_Missense_Mutation_p.M476I|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.M548I|ZNF559_uc010dwk.1_Missense_Mutation_p.M253I|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	484	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAGTACACATGAGAACTCACA	0.433		NaN											1	0	4.3181e-19	0.013726	4.60784e-19	28	29				
ZNF177	7730	broad.mit.edu	37	19	9492184	9492184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9492184G>C	uc002mli.2	+	12	1360	c.697G>C	c.(697-699)GAG>CAG	p.E233Q	ZNF177_uc002mlj.2_Missense_Mutation_p.E183Q|ZNF177_uc002mlk.2_Missense_Mutation_p.E233Q	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	233					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCACACTGGAGAGAAGCCTTA	0.468		NaN											0	0	0	0.01441	0	55	101				
ZNF846	162993	broad.mit.edu	37	19	9868234	9868234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9868234C>A	uc002mmb.1	-	6	2050	c.1519G>T	c.(1519-1521)GAA>TAA	p.E507*	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.E378*	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	507	C2H2-type 14; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCTTACATTCATATGGTTTT	0.393		NaN											1	0	3.39706e-21	0.01441	3.65666e-21	42	81				
ZNF846	162993	broad.mit.edu	37	19	9868950	9868950	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9868950C>A	uc002mmb.1	-	6	1334	c.803G>T	c.(802-804)GGA>GTA	p.G268V	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.G139V|ZNF846_uc002mmc.1_Missense_Mutation_p.G139V	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	268	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TAATTTAAGTCCTGTGGATTG	0.388		NaN											1	0	9.65021e-13	0.010818	1.0144e-12	28	40				
ZNF846	162993	broad.mit.edu	37	19	9869338	9869338	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9869338C>T	uc002mmb.1	-	6	946	c.415G>A	c.(415-417)GAG>AAG	p.E139K	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.E10K|ZNF846_uc002mmc.1_Missense_Mutation_p.E10K	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAAGTTTTCTCTCCAATGTGA	0.378		NaN											0	0	0	0.009535	0	27	47				
DNMT1	1786	broad.mit.edu	37	19	10266565	10266565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:10266565C>T	uc002mng.2	-	18	1588	c.1408G>A	c.(1408-1410)GAT>AAT	p.D470N	DNMT1_uc010xlc.1_Missense_Mutation_p.D486N|DNMT1_uc002mnh.2_Missense_Mutation_p.D365N|DNMT1_uc010xld.1_Missense_Mutation_p.D470N	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	470	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TCACCTCCATCAAAGCCAGTG	0.502		NaN											0	0	0	0.001855	0	10	16				
ATG4D	84971	broad.mit.edu	37	19	10663612	10663612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:10663612G>A	uc002mov.2	+	10	1414	c.1294G>A	c.(1294-1296)GAG>AAG	p.E432K	ATG4D_uc010xlh.1_Missense_Mutation_p.E369K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.E99K	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	432					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCCTGGCCGAGGGCCATGC	0.662		NaN											0	0	0	0.01441	0	79	90				
SMARCA4	6597	broad.mit.edu	37	19	11123777	11123777	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:11123777C>T	uc002mqf.3	+	16	2711	c.2427C>T	c.(2425-2427)ATC>ATT	p.I809I	SMARCA4_uc010dxp.2_Silent_p.I809I|SMARCA4_uc010dxo.2_Silent_p.I809I|SMARCA4_uc002mqg.1_Silent_p.I809I|SMARCA4_uc010dxq.2_Silent_p.I809I|SMARCA4_uc010dxr.2_Silent_p.I809I|SMARCA4_uc002mqj.3_Silent_p.I809I|SMARCA4_uc010dxs.2_Silent_p.I809I|SMARCA4_uc010dxt.1_Silent_p.I29I	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	809	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCTCATCATCGTGCCTCTCT	0.483		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.003954	0	18	26				
ACP5	54	broad.mit.edu	37	19	11687649	11687649	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:11687649C>G	uc002msg.3	-	3	417	c.271G>C	c.(271-273)GAG>CAG	p.E91Q	ACP5_uc002msh.3_Missense_Mutation_p.E91Q|ACP5_uc002msi.3_Missense_Mutation_p.E91Q|ACP5_uc002msj.3_Missense_Mutation_p.E91Q|ACP5_uc010dye.1_3'UTR	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	91					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						AATACGTCCTCAAAGGTCTCC	0.552		NaN											0	0	0	0.01441	0	54	48				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:12187443C>G	uc002mtb.2	+	4	1651	c.1508C>G	c.(1507-1509)CCT>CGT	p.P503R	ZNF844_uc010dym.1_Missense_Mutation_p.P346R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGAGAAACCCTATGAGTGTA	0.413		NaN											0	0	0	0.001984	0	6	55				
PRDX2	7001	broad.mit.edu	37	19	12911854	12911854	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:12911854G>C	uc002mvd.2	-	3	283	c.133C>G	c.(133-135)CTG>GTG	p.L45V	PRDX2_uc002mve.1_Missense_Mutation_p.L45V	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	45	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						GTGAAGTCCAGAGGGTAGAAA	0.602		NaN											0	0	0	0.014323	0	20	25				
IER2	9592	broad.mit.edu	37	19	13264409	13264409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:13264409C>T	uc002mwr.2	+	2	737	c.409C>T	c.(409-411)CCG>TCG	p.P137S		NM_004907	NP_004898	Q9BTL4	IER2_HUMAN	immediate early response 2	137										kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGACTGGTCCCGAGCAAGAA	0.687		NaN									OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.009096	0	4	2				
CYP4F12	66002	broad.mit.edu	37	19	15806821	15806821	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:15806821C>T	uc002nbl.2	+	10	1252	c.1191C>T	c.(1189-1191)TTC>TTT	p.F397F		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					CAGCTCCCTTCATCTCCCGAT	0.617		NaN											0	0	0	0.01441	0	48	64				
CYP4F12	66002	broad.mit.edu	37	19	15807291	15807291	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:15807291C>G	uc002nbl.2	+	12	1427	c.1366C>G	c.(1366-1368)CTG>GTG	p.L456V		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					GAGGTCACCTCTGGCTTTTAT	0.557		NaN											0	0	0	0.01441	0	63	99				
CHERP	10523	broad.mit.edu	37	19	16631645	16631645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:16631645C>G	uc002nei.1	-	13	2267	c.2193G>C	c.(2191-2193)AAG>AAC	p.K731N	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_RNA|CHERP_uc010xpg.1_Missense_Mutation_p.K270N	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	731	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						ACCTGTTCCTCTTCTCCTGGC	0.592		NaN											0	0	0	0.010771	0	36	47				
USHBP1	83878	broad.mit.edu	37	19	17362467	17362467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:17362467C>T	uc002nfs.1	-	12	1959	c.1846G>A	c.(1846-1848)GAA>AAA	p.E616K	USHBP1_uc002nfr.1_Missense_Mutation_p.E242K|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E552K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	616	Potential.						PDZ domain binding			ovary(1)	1						GCCACCTGTTCCAGCTCCCTG	0.607		NaN											0	0	0	0.01441	0	46	82				
MAST3	23031	broad.mit.edu	37	19	18255941	18255941	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:18255941G>T	uc002nhz.3	+	23	2854	c.2854G>T	c.(2854-2856)GTT>TTT	p.V952F		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	952	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S952L(1)		large_intestine(2)|ovary(2)|stomach(1)	5						GCCCCCCATCGTTATCCACAG	0.652		NaN											1	0	2.76863e-45	0.01441	3.03319e-45	74	105				
ZNF626	199777	broad.mit.edu	37	19	20808090	20808090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:20808090C>T	uc002npb.1	-	4	743	c.593G>A	c.(592-594)GGG>GAG	p.G198E	ZNF626_uc002npc.1_Missense_Mutation_p.G122E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GTAGGGTTTCCCTCCAGTATG	0.363		NaN											0	0	0	0.009096	0	3	44				
ZNF43	7594	broad.mit.edu	37	19	21990730	21990730	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:21990730C>T	uc002nqj.2	-	4	2239	c.2109G>A	c.(2107-2109)GAG>GAA	p.E703E	ZNF43_uc010ecv.2_Silent_p.E697E|ZNF43_uc002nql.2_Silent_p.E697E|ZNF43_uc002nqm.2_Silent_p.E697E|ZNF43_uc002nqk.2_Silent_p.E633E	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGTAGGGTTTCTCTCCAGTAT	0.363		NaN											0	0	0	0.014323	0	20	24				
U2AF1L4	199746	broad.mit.edu	37	19	36233667	36233667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:36233667C>G	uc002obg.2	-	8	822	c.513G>C	c.(511-513)GAG>GAC	p.E171D	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_3'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.E167Q|U2AF1L4_uc002obf.2_Missense_Mutation_p.E147D|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.	Error:Variant_position_missing_in_Q8WU68_after_alignment					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGTTCCTCTCTCGGGGATGG	0.602		NaN											0	0	0	0.01441	0	46	74				
CEACAM8	1088	broad.mit.edu	37	19	43097723	43097723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:43097723C>T	uc002oud.2	-	2	496	c.394G>A	c.(394-396)GAA>AAA	p.E132K	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	132	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				GTTACTTCTTCACTCATAAGA	0.483		NaN											0	0	0	0.00623	0	39	80				
CEACAM8	1088	broad.mit.edu	37	19	43097727	43097727	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:43097727C>A	uc002oud.2	-	2	492	c.390G>T	c.(388-390)ATG>ATT	p.M130I	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	130	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)				CTTCTTCACTCATAAGATTTA	0.473		NaN											1	0	1.22674e-20	0.00874	1.31475e-20	43	85				
ZNF224	7767	broad.mit.edu	37	19	44612276	44612276	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:44612276G>A	uc002oyh.1	+	6	2265	c.1963G>A	c.(1963-1965)GAG>AAG	p.E655K	uc002oyi.2_RNA	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	655	C2H2-type 17.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				ATACAAATGTGAGGACTGTGG	0.433		NaN											0	0	0	0.013114	0	36	59				
PVRL2	5819	broad.mit.edu	37	19	45375333	45375333	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45375333C>T	uc002ozw.1	+	3	1092	c.702C>T	c.(700-702)GTC>GTT	p.V234V	PVRL2_uc002ozv.2_Silent_p.V234V	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	234	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CAGATGGTGTCACGGTCACCT	0.607		NaN											0	0	0	0.01441	0	43	49				
PVRL2	5819	broad.mit.edu	37	19	45375398	45375398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45375398C>G	uc002ozw.1	+	3	1157	c.767C>G	c.(766-768)TCT>TGT	p.S256C	PVRL2_uc002ozv.2_Missense_Mutation_p.S256C	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	256	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTGACCCTCTCTGTACGCTGT	0.547		NaN											0	0	0	0.01441	0	65	67				
PPP1R13L	10848	broad.mit.edu	37	19	45899848	45899848	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45899848G>A	uc002pbn.2	-	4	744	c.667C>T	c.(667-669)CTA>TTA	p.L223L	PPP1R13L_uc002pbo.2_Silent_p.L223L|PPP1R13L_uc002pbp.2_Silent_p.L223L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	223	Pro-rich.			L -> I (in Ref. 3; AAW51146).	apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGGAGCCTAGCAGGGAGCTC	0.756		NaN											0	0	0	0.00245	0	13	9				
SYMPK	8189	broad.mit.edu	37	19	46328437	46328437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:46328437C>T	uc002pdn.2	-	18	2727	c.2482G>A	c.(2482-2484)GAG>AAG	p.E828K	SYMPK_uc002pdo.1_Missense_Mutation_p.E828K|SYMPK_uc002pdp.1_Missense_Mutation_p.E828K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	828					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACCGGCTGCTCAATGACCCTC	0.652		NaN											0	0	0	0.01441	0	56	68				
ZC3H4	23211	broad.mit.edu	37	19	47597706	47597706	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:47597706C>T	uc002pga.3	-	3	359	c.321G>A	c.(319-321)CGG>CGA	p.R107R	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	107	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTCTTTCTTCCGTTTCCGCT	0.537		NaN											0	0	0	0.01441	0	124	212				
HRC	3270	broad.mit.edu	37	19	49657096	49657096	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:49657096C>G	uc002pmv.2	-	1	1586	c.1399G>C	c.(1399-1401)GGA>CGA	p.G467R		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	467					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ACTGTGTGTCCTGGGGGGTGA	0.547		NaN											0	0	0	0.00874	0	33	58				
TEAD2	8463	broad.mit.edu	37	19	49852054	49852054	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:49852054G>C	uc002pnj.2	-	8	732	c.641C>G	c.(640-642)TCG>TGG	p.S214W	TEAD2_uc002png.2_Missense_Mutation_p.S217W|TEAD2_uc002pnh.2_Missense_Mutation_p.S218W|TEAD2_uc002pni.2_Missense_Mutation_p.S217W|TEAD2_uc010yao.1_Missense_Mutation_p.S86W|TEAD2_uc010emw.2_Missense_Mutation_p.S217W	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	214	Transcriptional activation (Potential).|Pro-rich.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572		NaN											0	0	0	0.010729	0	11	7				
SPIB	6689	broad.mit.edu	37	19	50926888	50926888	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:50926888G>A	uc002psd.2	+	5	391	c.366G>A	c.(364-366)CCG>CCA	p.P122P	SPIB_uc002pse.2_Silent_p.P122P|SPIB_uc010ycc.1_Silent_p.P31P	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	122					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CATATGCCCCGTACCCCAGCC	0.647		NaN											0	0	0	0.009535	0	22	29				
KLK8	11202	broad.mit.edu	37	19	51503318	51503318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:51503318C>T	uc002pur.1	-	4	606	c.427G>A	c.(427-429)GAT>AAT	p.D143N	KLK8_uc002puq.1_Missense_Mutation_p.D188N|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.D143N|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	143	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGCAATGATCTGCCAGGCTG	0.587		NaN											0	0	0	0.004007	0	16	23				
ZNF600	162966	broad.mit.edu	37	19	53269283	53269283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:53269283G>A	uc002qab.3	-	3	2012	c.1726C>T	c.(1726-1728)CAT>TAT	p.H576Y		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	576	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTCCAGTATGAAGTCTACGA	0.438		NaN											0	0	0	0.01441	0	113	117				
ZNF320	162967	broad.mit.edu	37	19	53384365	53384365	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:53384365G>A	uc002qag.2	-	4	1205	c.1014C>T	c.(1012-1014)TTC>TTT	p.F338F	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.F284F|ZNF320_uc002qai.2_Silent_p.F338F	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	338	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		ATTTGCGACTGAAAACTTTGT	0.423		NaN											0	0	0	0.005524	0	36	36				
NLRP12	91662	broad.mit.edu	37	19	54313767	54313767	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:54313767C>T	uc002qch.3	-	3	1366	c.1146G>A	c.(1144-1146)GAG>GAA	p.E382E	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.E382E|NLRP12_uc002qcj.3_Silent_p.E382E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.E382E	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	382	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCCCGCCTGCTCTGCATTGT	0.562		NaN											0	0	0	0.01441	0	104	184				
KIR3DP1	768329	broad.mit.edu	37	19	55267599	55267599	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55267599A>C	uc010yfi.1	+	2	69	c.68A>C	c.(67-69)GAG>GCG	p.E23A	KIR2DS4_uc010yfj.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_001015070	NP_001015070			killer-cell Ig-like receptor												0				GBM - Glioblastoma multiforme(193;0.0192)		TGGCCACATGAGGGTGAGTCC	0.532		NaN											0	0	0	0.00278	0	15	129				
NLRP2	55655	broad.mit.edu	37	19	55494122	55494122	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55494122C>G	uc002qij.2	+	6	1142	c.1056C>G	c.(1054-1056)ATC>ATG	p.I352M	NLRP2_uc010yfp.1_Missense_Mutation_p.I329M|NLRP2_uc010esn.2_Missense_Mutation_p.I328M|NLRP2_uc010eso.2_Missense_Mutation_p.I349M|NLRP2_uc010esp.2_Missense_Mutation_p.I330M	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	352	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGCCGATCTACATAAGGG	0.607		NaN											0	0	0	0.010729	0	10	13				
C19orf51	352909	broad.mit.edu	37	19	55673126	55673126	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55673126G>A	uc002qji.1	-	6	582	c.548C>T	c.(547-549)GCG>GTG	p.A183V	C19orf51_uc002qjh.1_5'UTR|C19orf51_uc002qjj.1_Missense_Mutation_p.A230V|C19orf51_uc002qjk.1_Missense_Mutation_p.A129V|C19orf51_uc002qjl.1_Missense_Mutation_p.A251V			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	183											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CATGGGGAACGCCTGGGGCCC	0.711		NaN											0	0	0	0.000602	0	4	1				
LAPTM4A	9741	broad.mit.edu	37	2	20240714	20240714	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:20240714A>T	uc002rdm.2	-	2	678	c.170T>A	c.(169-171)ATG>AAG	p.M57K	LAPTM4A_uc002rdn.2_Missense_Mutation_p.M15K|LAPTM4A_uc010yjx.1_Missense_Mutation_p.M57K	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	57					transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGCTGGCATGGAGTTTGG	0.373		NaN											0	0	0	0.008291	0	8	134				
ADCY3	109	broad.mit.edu	37	2	25044461	25044461	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:25044461C>T	uc002rfs.3	-	19	3251	c.3052G>A	c.(3052-3054)GAC>AAC	p.D1018N	ADCY3_uc002rfr.3_Missense_Mutation_p.D605N|ADCY3_uc010ykm.1_Missense_Mutation_p.D1019N	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	1018	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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGCGAAGTCGGCCAGGTCA	0.612		NaN											0	0	0	0.01441	0	60	192				
CAD	790	broad.mit.edu	37	2	27465812	27465812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:27465812C>T	uc002rji.2	+	42	6613	c.6451C>T	c.(6451-6453)CGA>TGA	p.R2151*	CAD_uc010eyw.2_Nonsense_Mutation_p.R2088*	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	2151	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGAAGGAACGATTTGGCTC	0.552		NaN											0	0	0	0.010504	0	14	42				
GPN1	11321	broad.mit.edu	37	2	27858051	27858051	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:27858051G>A	uc010ymc.1	+	7	537	c.516G>A	c.(514-516)TCG>TCA	p.S172S	ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.S146S|GPN1_uc010yma.1_Silent_p.S79S|GPN1_uc010ymb.1_Silent_p.S63S|GPN1_uc010ymd.1_Silent_p.S53S|GPN1_uc010yme.1_Silent_p.S172S|GPN1_uc010ezg.1_Silent_p.S53S	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	158						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						TGGACACATCGAGAAGTACCA	0.443		NaN											0	0	0	0.01441	0	65	44				
CYP1B1	1545	broad.mit.edu	37	2	38298398	38298398	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:38298398C>A	uc002rqo.2	-	4	1502	c.1099G>T	c.(1099-1101)GAC>TAC	p.D367Y		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	367					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	GGCAGACGGTCCCTCCCCACG	0.517		NaN											1	0	3.4345e-17	0.011902	3.64915e-17	35	22				
SPTBN1	6711	broad.mit.edu	37	2	54880916	54880916	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:54880916C>T	uc002rxu.2	+	27	5997	c.5748C>T	c.(5746-5748)TTC>TTT	p.F1916F	SPTBN1_uc002rxx.2_Silent_p.F1903F|SPTBN1_uc002rxy.2_Silent_p.F61F	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1916	Spectrin 16.|Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGTTCCGCTTCTTCAGCATGG	0.597		NaN											0	0	0	0.00632	0	24	13				
SPTBN1	6711	broad.mit.edu	37	2	54882218	54882218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:54882218C>G	uc002rxu.2	+	28	6083	c.5834C>G	c.(5833-5835)TCT>TGT	p.S1945C	SPTBN1_uc002rxx.2_Missense_Mutation_p.S1932C|SPTBN1_uc002rxy.2_Missense_Mutation_p.S90C|SPTBN1_uc010you.1_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1945	Spectrin 16.|Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GATGTATCATCTGTTGAACTC	0.348		NaN											0	0	0	0.008291	0	10	11				
USP34	9736	broad.mit.edu	37	2	61575533	61575533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:61575533C>G	uc002sbe.2	-	15	1779	c.1757G>C	c.(1756-1758)AGT>ACT	p.S586T		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	586					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			AGATCCATCACTATGCCCACT	0.483		NaN											0	0	0	0.009096	0	3	196				
ST3GAL5	8869	broad.mit.edu	37	2	86090557	86090557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:86090557G>A	uc002sqq.1	-	2	263	c.134C>T	c.(133-135)CCT>CTT	p.P45L	ST3GAL5_uc010ysy.1_Missense_Mutation_p.P45L|ST3GAL5_uc010ysz.1_Missense_Mutation_p.P45L|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Missense_Mutation_p.P22L	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	45	Cytoplasmic (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0						TTGCAGGGAAGGCCTCGAGCA	0.498		NaN											0	0	0	0.004007	0	15	52				
VWA3B	200403	broad.mit.edu	37	2	98810866	98810866	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:98810866G>C	uc002syo.2	+	12	1912	c.1648G>C	c.(1648-1650)GAT>CAT	p.D550H	VWA3B_uc010yvh.1_Missense_Mutation_p.D400H|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.D69H|VWA3B_uc002sym.2_Missense_Mutation_p.D550H|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D207H|VWA3B_uc002syp.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	550	VWFA.									ovary(3)|large_intestine(2)|skin(1)	6						TGTGAAGTTTGATGGTCAAGC	0.373		NaN											0	0	0	0.01441	0	78	57				
C2orf15	150590	broad.mit.edu	37	2	99767109	99767109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:99767109G>A	uc002szk.2	+	4	589	c.190G>A	c.(190-192)GAA>AAA	p.E64K	TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron	NM_144706	NP_653307	Q8WU43	CB015_HUMAN	hypothetical protein LOC150590	64											0						ACGAGGGACTGAAAAAAGCAG	0.363		NaN											0	0	0	0.003163	0	12	14				
PTPN4	5775	broad.mit.edu	37	2	120712877	120712877	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:120712877G>C	uc002tmf.1	+	20	2729	c.1958G>C	c.(1957-1959)GGA>GCA	p.G653A	PTPN4_uc010flj.1_Missense_Mutation_p.G366A|PTPN4_uc010yyr.1_Missense_Mutation_p.G286A	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	653						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CTTATCACTGGAACAGTCCTG	0.398		NaN											0	0	0	0.003954	0	17	23				
CYP27C1	339761	broad.mit.edu	37	2	127951379	127951379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:127951379G>C	uc002tod.2	-	6	915	c.784C>G	c.(784-786)CTG>GTG	p.L262V		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	262						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TTCGGAATCAGATACCCGCCA	0.597		NaN											0	0	0	0.004656	0	26	24				
LRP1B	53353	broad.mit.edu	37	2	141128300	141128300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:141128300C>T	uc002tvj.1	-	71	11959	c.10987G>A	c.(10987-10989)GAT>AAT	p.D3663N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3663	Extracellular (Potential).|LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTCTTCATCACTGCCATCC	0.398		NaN								TSP Lung(27;0.18)			0	0	0	0.01441	0	118	102				
ACVR2A	92	broad.mit.edu	37	2	148653908	148653908	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:148653908T>G	uc002twg.2	+	3	363	c.94T>G	c.(94-96)TTC>GTC	p.F32V	ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.F32V	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	32	Extracellular (Potential).				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGAGTGTCTTTTCTTTAATGC	0.348		NaN											0	0	0	0.01441	0	34	22				
NEB	4703	broad.mit.edu	37	2	152397312	152397312	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:152397312G>C	uc010fnx.2	-	109	15774	c.15583C>G	c.(15583-15585)CTG>GTG	p.L5195V	NEB_uc002txr.2_Missense_Mutation_p.L1618V	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5195	Nebulin 141.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAACATACAGATACTGAATA	0.418		NaN											0	0	0	0.004007	0	15	24				
MYO3B	140469	broad.mit.edu	37	2	171070928	171070928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:171070928C>G	uc002ufy.2	+	4	504	c.361C>G	c.(361-363)CTA>GTA	p.L121V	MYO3B_uc002ufv.2_Missense_Mutation_p.L108V|MYO3B_uc010fqb.1_Missense_Mutation_p.L108V|MYO3B_uc002ufz.2_Missense_Mutation_p.L121V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.L108V	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	121	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						TGTCAAAGGTCTACTCAGATG	0.483		NaN											0	0	0	0.01441	0	46	48				
ITGA6	3655	broad.mit.edu	37	2	173352763	173352763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:173352763C>T	uc002uhp.1	+	18	2602	c.2399C>T	c.(2398-2400)TCG>TTG	p.S800L	ITGA6_uc010zdy.1_Missense_Mutation_p.S681L|ITGA6_uc002uho.1_Missense_Mutation_p.S800L|ITGA6_uc010fqm.1_Missense_Mutation_p.S446L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	839	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTATCGGTCTCGGGGTAAGTG	0.333		NaN											0	0	0	0.006999	0	33	99				
PLEKHA3	65977	broad.mit.edu	37	2	179358588	179358588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:179358588G>A	uc002umn.2	+	4	720	c.322G>A	c.(322-324)GAA>AAA	p.E108K		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	108						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AGAAATAAGTGAAACCAGTGA	0.308		NaN											0	0	0	0.004482	0	6	24				
BMPR2	659	broad.mit.edu	37	2	203397422	203397422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:203397422G>C	uc002uzf.3	+	9	2391	c.1243G>C	c.(1243-1245)GAG>CAG	p.E415Q	BMPR2_uc010ftr.2_Missense_Mutation_p.E415Q	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	415	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						AATCTATTGGGAGATATTTAT	0.373		NaN											0	0	0	0.007291	0	23	19				
IKZF2	22807	broad.mit.edu	37	2	213914495	213914495	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:213914495G>T	uc002vem.2	-	5	685	c.516C>A	c.(514-516)TTC>TTA	p.F172L	IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.F119L|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.F146L|IKZF2_uc002vel.2_Missense_Mutation_p.F93L|IKZF2_uc010fuw.2_Translation_Start_Site|IKZF2_uc010fux.2_Translation_Start_Site|IKZF2_uc010fuy.2_Missense_Mutation_p.F146L|IKZF2_uc002ven.2_Missense_Mutation_p.F146L	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	172	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGTAGCTACAGAAAGGACATT	0.473		NaN											1	0	2.41591e-17	0.004656	2.57245e-17	23	37				
NHEJ1	79840	broad.mit.edu	37	2	220022246	220022246	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220022246G>C	uc002vjp.3	-	3	484	c.338C>G	c.(337-339)TCT>TGT	p.S113C	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	113					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		GGGGAGGCCAGAGAGCTCACT	0.527		NaN						Direct_reversal_of_damage|NHEJ					0	0	0	0.005524	0	32	33				
C2orf24	27013	broad.mit.edu	37	2	220041503	220041503	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220041503G>A	uc002vju.3	-	1	200	c.48C>T	c.(46-48)CTC>CTT	p.L16L	C2orf24_uc002vjv.2_Silent_p.L16L|FAM134A_uc002vjw.3_5'Flank|FAM134A_uc010fwc.2_5'Flank	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	hypothetical protein LOC27013	16					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding				0		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCCGGCGAGGGAGAAGG	0.711		NaN											0	0	0	0.001984	0	4	3				
STK11IP	114790	broad.mit.edu	37	2	220470931	220470931	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220470931G>C	uc002vml.2	+	10	940	c.897G>C	c.(895-897)GGG>GGC	p.G299G	STK11IP_uc010zlk.1_Silent_p.G288G|STK11IP_uc010zll.1_Intron|STK11IP_uc002vmm.1_Silent_p.G288G	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	299	LRR 8.				protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGGAGGGGAACCCTCTTT	0.632		NaN									OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	0.004672	0	2	6				
CCDC140	151278	broad.mit.edu	37	2	223169071	223169071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:223169071G>C	uc002vnb.1	+	2	834	c.450G>C	c.(448-450)AAG>AAC	p.K150N		NM_153038	NP_694583	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	150	Potential.										0		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		aagagagaaagagaagaaaag	0.398		NaN											0	0	0	0.000602	0	5	2				
TRIP12	9320	broad.mit.edu	37	2	230661454	230661454	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:230661454G>A	uc002vpw.1	-	24	3553	c.3444C>T	c.(3442-3444)GTC>GTT	p.V1148V	TRIP12_uc002vpx.1_Silent_p.V1196V|TRIP12_uc002vpy.1_Silent_p.V878V|TRIP12_uc010zlz.1_RNA	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1148					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGACTCTGAGACTATGCTAC	0.373		NaN											0	0	0	0.003954	0	19	43				
RNPEPL1	57140	broad.mit.edu	37	2	241516112	241516112	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:241516112C>G	uc002vzi.2	+	9	1571	c.978C>G	c.(976-978)ATC>ATG	p.I326M	RNPEPL1_uc010fzf.2_Missense_Mutation_p.I232M|RNPEPL1_uc002vzj.2_Translation_Start_Site	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	326					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCATTGACATCTCCAAGTGGA	0.672		NaN											0	0	0	0.01441	0	48	30				
NSFL1C	55968	broad.mit.edu	37	20	1433191	1433191	+	Silent	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:1433191C>A	uc002wfc.2	-	7	1680	c.732G>T	c.(730-732)GTG>GTT	p.V244V	NSFL1C_uc002wfd.2_Silent_p.V133V|NSFL1C_uc002wfe.2_Silent_p.V213V|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Silent_p.V10V	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	244	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						CTTTGGGCTTCACAAAGTCCT	0.567		NaN											1	0	2.1089e-46	0.01441	2.31557e-46	79	84				
TMC2	117532	broad.mit.edu	37	20	2582792	2582792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:2582792G>C	uc002wgf.1	+	11	1273	c.1258G>C	c.(1258-1260)GAA>CAA	p.E420Q	TMC2_uc002wgg.1_Missense_Mutation_p.E404Q|TMC2_uc010zpw.1_Missense_Mutation_p.E252Q|TMC2_uc010zpx.1_Missense_Mutation_p.E251Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	420	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						GAGTAACAAAGAAGAAAATAT	0.403		NaN											0	0	0	0.01441	0	40	32				
TRMT6	51605	broad.mit.edu	37	20	5927104	5927104	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:5927104C>T	uc002wmh.1	-	2	326	c.204G>A	c.(202-204)GTG>GTA	p.V68V	TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	68					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						CTCCACTGGTCACTTCAAATG	0.418		NaN											0	0	0	0.003755	0	31	55				
PAK7	57144	broad.mit.edu	37	20	9520184	9520184	+	Silent	SNP	G	G	A	rs141553527		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:9520184G>A	uc002wnl.2	-	11	2630	c.2085C>T	c.(2083-2085)CTC>CTT	p.L695L	PAK7_uc002wnk.2_Silent_p.L695L|PAK7_uc002wnj.2_Silent_p.L695L|PAK7_uc010gby.1_Silent_p.L608L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	695	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			ATGGATGTCCGAGGAGTTCCT	0.512		NaN											0	0	0	0.01441	0	87	137				
MKKS	8195	broad.mit.edu	37	20	10389350	10389350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:10389350G>A	uc002wnt.1	-	4	1974	c.1087C>T	c.(1087-1089)CTT>TTT	p.L363F	MKKS_uc002wnu.1_Missense_Mutation_p.L363F|MKKS_uc010zrd.1_RNA	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	363	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						TTAGGAATAAGATGAAAAAAA	0.398		NaN							Bardet-Biedl_syndrome				0	0	0	0.00278	0	23	32				
GTSF1L	149699	broad.mit.edu	37	20	42354926	42354926	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:42354926C>G	uc002xld.2	-	1	717	c.409G>C	c.(409-411)GAG>CAG	p.E137Q	GTSF1L_uc002xlc.2_Missense_Mutation_p.E112Q	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like isoform 1	137							metal ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGACTGGTCTCTCTTGCTGAC	0.368		NaN											0	0	0	0.01441	0	67	39				
SLC35C2	51006	broad.mit.edu	37	20	44984459	44984459	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:44984459G>T	uc002xro.2	-	5	931	c.390C>A	c.(388-390)ATC>ATA	p.I130I	SLC35C2_uc002xrp.2_Silent_p.I130I|SLC35C2_uc002xrq.2_Silent_p.I130I|SLC35C2_uc002xrr.2_Silent_p.I130I|SLC35C2_uc010zxn.1_Silent_p.I16I|SLC35C2_uc010zxo.1_Silent_p.I16I|SLC35C2_uc010zxp.1_Silent_p.I159I	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	130					transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CCAGCTTGAAGATCAGAGAGA	0.517		NaN											1	0	2.29192e-23	0.01441	2.47246e-23	45	123				
PREX1	57580	broad.mit.edu	37	20	47260976	47260976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:47260976G>C	uc002xtw.1	-	27	3595	c.3572C>G	c.(3571-3573)TCC>TGC	p.S1191C	PREX1_uc002xtv.1_Missense_Mutation_p.S488C	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1191					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCAAGTAGGAGCTGTTACT	0.562		NaN											0	0	0	0.006999	0	30	24				
STAU1	6780	broad.mit.edu	37	20	47736621	47736621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:47736621C>G	uc002xud.2	-	9	1422	c.1011G>C	c.(1009-1011)AAG>AAC	p.K337N	STAU1_uc002xua.2_Missense_Mutation_p.K256N|STAU1_uc002xub.2_Missense_Mutation_p.K262N|STAU1_uc002xuc.2_Missense_Mutation_p.K256N|STAU1_uc002xue.2_Missense_Mutation_p.K256N|STAU1_uc002xuf.2_Missense_Mutation_p.K262N|STAU1_uc002xug.2_Missense_Mutation_p.K337N	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	337	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCCACCTTCTTGTTGGTGC	0.522		NaN											0	0	0	0.01441	0	41	19				
MOCS3	27304	broad.mit.edu	37	20	49576100	49576100	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:49576100G>A	uc002xvy.1	+	1	738	c.721G>A	c.(721-723)GAC>AAC	p.D241N	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	241					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						CAACTGCGCGGACGGCGGGGT	0.622		NaN											0	0	0	0.01441	0	64	173				
ZFP64	55734	broad.mit.edu	37	20	50769825	50769825	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:50769825G>C	uc002xwl.2	-	6	1255	c.906C>G	c.(904-906)CTC>CTG	p.L302L	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.L300L|ZFP64_uc002xwn.2_Silent_p.L248L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	302	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGTGCGACTTGAGGTTCCCCT	0.557		NaN											0	0	0	0.01441	0	45	147				
CTCFL	140690	broad.mit.edu	37	20	56090809	56090809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:56090809C>G	uc010gix.1	-	5	1803	c.1141G>C	c.(1141-1143)GAT>CAT	p.D381H	CTCFL_uc010giw.1_Missense_Mutation_p.D381H|CTCFL_uc002xym.2_Missense_Mutation_p.D381H|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.D381H|CTCFL_uc010gjb.1_Missense_Mutation_p.D381H|CTCFL_uc010gjc.1_Missense_Mutation_p.D381H|CTCFL_uc010gjd.1_Missense_Mutation_p.D381H|CTCFL_uc010gje.2_Missense_Mutation_p.D381H|CTCFL_uc010gjf.2_Missense_Mutation_p.D176H|CTCFL_uc010gjg.2_Missense_Mutation_p.D113H|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.D176H|CTCFL_uc010gjj.1_Missense_Mutation_p.D381H	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	381	C2H2-type 5.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGTAGGTATCTCTGCTGGCA	0.478		NaN											0	0	0	0.01441	0	174	105				
TAF4	6874	broad.mit.edu	37	20	60582637	60582637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:60582637G>A	uc002ybs.2	-	6	1940	c.1940C>T	c.(1939-1941)TCT>TTT	p.S647F		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	647	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTGAGGTGAAGAATTAAGTTC	0.458		NaN											0	0	0	0.01441	0	134	75				
ARFGAP1	55738	broad.mit.edu	37	20	61910306	61910306	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:61910306G>C	uc002yem.2	+	7	698	c.586G>C	c.(586-588)GAA>CAA	p.E196Q	ARFGAP1_uc011aas.1_Missense_Mutation_p.E143Q|ARFGAP1_uc011aat.1_Missense_Mutation_p.E83Q|ARFGAP1_uc002yel.2_Missense_Mutation_p.E196Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.E196Q	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	196					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					TCAGAAGAAAGAAGATGACTT	0.597		NaN											0	0	0	0.01441	0	63	23				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	Silent	SNP	G	G	A	rs8130203	by1000genomes	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:11058248G>A	uc002yit.1	-	3	400	c.192C>T	c.(190-192)ATC>ATT	p.I64I	BAGE_uc002yiw.1_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433		NaN											0	0	0	0.000602	0	4	133				
MX2	4600	broad.mit.edu	37	21	42752066	42752066	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:42752066G>C	uc002yzf.1	+	4	669	c.565G>C	c.(565-567)GAG>CAG	p.E189Q	MX2_uc011aer.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	189					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GGTGGAGAAAGAGATACACAA	0.577		NaN											0	0	0	0.00874	0	33	9				
RRP1B	23076	broad.mit.edu	37	21	45093792	45093792	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:45093792G>A	uc002zdk.2	+	4	427	c.313G>A	c.(313-315)GAA>AAA	p.E105K		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	105					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CATGAATCGAGAATGGAAAGG	0.408		NaN											0	0	0	0.013114	0	40	6				
KRTAP10-7	386675	broad.mit.edu	37	21	46020560	46020560	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:46020560G>A	uc002zfn.3	+	1	64	c.39G>A	c.(37-39)CTG>CTA	p.L13L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	13						keratin filament					0						CCAGCGACCTGAGCTACGGCA	0.537		NaN											0	0	0	0.012213	0	24	31				
COL6A1	1291	broad.mit.edu	37	21	47419594	47419594	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:47419594G>A	uc002zhu.1	+	27	1866	c.1764G>A	c.(1762-1764)CCG>CCA	p.P588P	COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'Flank|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	588	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ACCAAGGACCGCCTGGGCCGG	0.632		NaN											0	0	0	0.010504	0	17	17				
PCNT	5116	broad.mit.edu	37	21	47855826	47855826	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:47855826G>A	uc002zji.3	+	39	8868	c.8761G>A	c.(8761-8763)GAA>AAA	p.E2921K	PCNT_uc002zjj.2_Missense_Mutation_p.E2724K	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2921	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GCGAGAATTAGAACTGCAGCG	0.433		NaN											0	0	0	0.012319	0	20	38				
TUBA8	51807	broad.mit.edu	37	22	18561373	18561373	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:18561373G>C	uc002znr.2	+	1	687	c.-336_splice	c.e1+1		PEX26_uc002znp.3_Splice_Site_p.T77_splice|PEX26_uc002znq.3_Splice_Site_p.T77_splice|uc002zns.2_Nonsense_Mutation_p.Y50*|PEX26_uc002znt.2_Splice_Site_p.T77_splice	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8						microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						CCGCGGGCACGTACGTGCTGG	0.647		NaN											0	0	0	0.001168	0	5	7				
SEPT5	5413	broad.mit.edu	37	22	19709361	19709361	+	Silent	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:19709361T>C	uc002zpv.1	+	10	956	c.831T>C	c.(829-831)CAT>CAC	p.H277H	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	277					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					ACCAGGCGCATTGCGACTTCG	0.632		NaN											0	0	0	0.001984	0	7	62				
ARVCF	421	broad.mit.edu	37	22	19961739	19961739	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:19961739C>T	uc002zqz.2	-	12	2255	c.1984G>A	c.(1984-1986)GAG>AAG	p.E662K	ARVCF_uc002zqy.2_Missense_Mutation_p.E178K	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	662	ARM 7.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CGTACCACCTCGGGCTGGTAC	0.632		NaN											0	0	0	0.006122	0	15	16				
SERPIND1	3053	broad.mit.edu	37	22	21133814	21133814	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:21133814G>C	uc002ztb.1	+	2	281	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E100Q	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	72	Chemotactic activity.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGATTCCAGAGGGGGAGGA	0.517		NaN											0	0	0	0.007291	0	23	42				
GAL3ST1	9514	broad.mit.edu	37	22	30950948	30950948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:30950948G>A	uc003aig.1	-	4	1404	c.1264C>T	c.(1264-1266)CGG>TGG	p.R422W	GAL3ST1_uc003aih.1_Missense_Mutation_p.R422W|GAL3ST1_uc003aii.1_Missense_Mutation_p.R422W|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R422W	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	422	Lumenal (Potential).			R -> E (in Ref. 1; AA sequence).	protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						CGTCACCACCGCAGGAAATCG	0.687		NaN											0	0	0	0.009096	0	3	22				
EIF3L	51386	broad.mit.edu	37	22	38245481	38245481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:38245481G>A	uc003auf.2	+	1	112	c.25G>A	c.(25-27)GAG>AAG	p.E9K	EIF3L_uc003aue.1_Missense_Mutation_p.E9K|EIF3L_uc011ann.1_Missense_Mutation_p.E9K|EIF3L_uc003aug.2_5'Flank|MIR659_hsa-mir-659|MI0003683_5'Flank	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	9						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						TGATGATTATGAGTCTGAGGT	0.647		NaN											0	0	0	0.01441	0	100	150				
SREBF2	6721	broad.mit.edu	37	22	42280950	42280950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:42280950G>C	uc003bbi.2	+	11	2312	c.2143G>C	c.(2143-2145)GAG>CAG	p.E715Q	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	715	Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						CACACTGGTTGAGATCCATCT	0.587		NaN											0	0	0	0.01441	0	41	56				
MTMR14	64419	broad.mit.edu	37	3	9743604	9743604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:9743604G>C	uc003brz.2	+	19	2024	c.1900G>C	c.(1900-1902)GAG>CAG	p.E634Q	MTMR14_uc003bsa.2_Missense_Mutation_p.E582Q|MTMR14_uc003bsb.2_Missense_Mutation_p.E522Q|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Missense_Mutation_p.E276Q|MTMR14_uc003bsc.2_RNA|CPNE9_uc003bsd.2_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	634						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					GGGCCTGCTGGAGCAATTTGC	0.617		NaN											0	0	0	0.01441	0	49	76				
HRH1	3269	broad.mit.edu	37	3	11300932	11300932	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:11300932C>T	uc010hdr.2	+	2	551	c.209C>T	c.(208-210)TCG>TTG	p.S70L	HRH1_uc010hds.2_Missense_Mutation_p.S70L|HRH1_uc010hdt.2_Missense_Mutation_p.S70L|HRH1_uc003bwb.3_Missense_Mutation_p.S70L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	70	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GTCAGCCTCTCGGTGGCGGAC	0.577		NaN											0	0	0	0.01441	0	43	45				
NGLY1	55768	broad.mit.edu	37	3	25805630	25805630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:25805630G>C	uc003cdl.2	-	3	527	c.419C>G	c.(418-420)TCA>TGA	p.S140*	NGLY1_uc010hfg.2_Nonsense_Mutation_p.S140*|NGLY1_uc003cdm.2_Nonsense_Mutation_p.S140*|NGLY1_uc011awo.1_Nonsense_Mutation_p.S98*|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	140					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1						ACTGGGATTTGAAGATGGTGT	0.448		NaN											0	0	0	0.01441	0	47	55				
KIF15	56992	broad.mit.edu	37	3	44835802	44835802	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:44835802G>C	uc003cnx.3	+	8	882	c.733G>C	c.(733-735)GAG>CAG	p.E245Q	KIF15_uc010hiq.2_Missense_Mutation_p.E148Q	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	245	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATTACAATAGAGTCAATGGA	0.428		NaN											0	0	0	0.010771	0	40	66				
SEMA3F	6405	broad.mit.edu	37	3	50222226	50222226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:50222226G>A	uc003cyj.2	+	13	1633	c.1435G>A	c.(1435-1437)GAG>AAG	p.E479K	SEMA3F_uc003cyk.2_Missense_Mutation_p.E448K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	479	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGGGCGCTATGAGGTGCTTTT	0.682		NaN											0	0	0	0.006122	0	15	16				
GLT8D1	55830	broad.mit.edu	37	3	52730304	52730304	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:52730304G>A	uc003dfi.3	-	6	617	c.478C>T	c.(478-480)CTG>TTG	p.L160L	GLT8D1_uc003dfj.2_Silent_p.L160L|GLT8D1_uc003dfk.2_Silent_p.L160L|GLT8D1_uc003dfl.2_Silent_p.L160L|GLT8D1_uc003dfm.2_Silent_p.L160L|GLT8D1_uc003dfn.2_Silent_p.L160L|GLT8D1_uc003dfo.1_Silent_p.L160L	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	160	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGGAACCAGAATTGGCAAG	0.418		NaN											0	0	0	0.009096	0	3	61				
ACTR8	93973	broad.mit.edu	37	3	53908332	53908332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:53908332C>T	uc003dhd.2	-	8	1030	c.971G>A	c.(970-972)CGA>CAA	p.R324Q	ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.R213Q	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	324					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GAACCCAGCTCGCTGCATTAG	0.398		NaN											0	0	0	0.013726	0	29	28				
PRICKLE2	166336	broad.mit.edu	37	3	64132939	64132939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:64132939C>G	uc003dmf.2	-	7	1813	c.1227G>C	c.(1225-1227)CAG>CAC	p.Q409H		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	409						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGTCTGGTTCTGCTCCATCT	0.612		NaN											0	0	0	0.01441	0	50	73				
ROBO2	6092	broad.mit.edu	37	3	77623749	77623749	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:77623749G>T	uc003dpy.3	+	14	2714	c.2071G>T	c.(2071-2073)GTC>TTC	p.V691F	ROBO2_uc003dpz.2_Missense_Mutation_p.V695F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V695F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	691	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATGCCAAAGTCCCGACTGA	0.458		NaN											1	0	0.004672	0.004672	0.00475888	3	92				
SENP7	57337	broad.mit.edu	37	3	101060619	101060619	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:101060619G>C	uc003dut.2	-	15	2222	c.2111C>G	c.(2110-2112)TCA>TGA	p.S704*	SENP7_uc003duu.2_Nonsense_Mutation_p.S639*|SENP7_uc003duv.2_Nonsense_Mutation_p.S671*|SENP7_uc003duw.2_Nonsense_Mutation_p.S638*|SENP7_uc003dux.2_Nonsense_Mutation_p.S540*	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	704					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						ATCTGTGTTTGAGGGCTGACA	0.418		NaN											0	0	0	0.007413	0	14	22				
ATG3	64422	broad.mit.edu	37	3	112255401	112255401	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:112255401C>G	uc003dzd.2	-	10	825	c.715G>C	c.(715-717)GAT>CAT	p.D239H	ATG3_uc003dzc.2_Missense_Mutation_p.D239H|ATG3_uc010hqe.2_Missense_Mutation_p.D239H	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN	Apg3p	239					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			ovary(3)	3						TTCACATGATCCTGACTGATG	0.368		NaN											0	0	0	0.003755	0	35	50				
DIRC2	84925	broad.mit.edu	37	3	122552196	122552196	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:122552196A>T	uc003efw.3	+	4	875	c.736A>T	c.(736-738)ACA>TCA	p.T246S	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.T84S	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	246	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		ATTTTCTGCAACACTAGCTTA	0.393		NaN											0	0	0	0.003954	0	21	152				
SEMA5B	54437	broad.mit.edu	37	3	122646670	122646670	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:122646670G>T	uc003efz.1	-	8	1121	c.817C>A	c.(817-819)CGC>AGC	p.R273S	SEMA5B_uc011bju.1_Missense_Mutation_p.R215S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R273S|SEMA5B_uc010hro.1_Missense_Mutation_p.R215S|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	273	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGGGCAGTGCGAAGCGGTGGC	0.627		NaN											1	0	9.9191e-30	0.00874	1.08188e-29	30	38				
RUVBL1	8607	broad.mit.edu	37	3	127842458	127842458	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:127842458G>A	uc003ekh.2	-	1	214	c.110C>T	c.(109-111)TCA>TTA	p.S37L	RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.S37L	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	37					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CACAAGCCCTGAGGCCGCCTG	0.667		NaN											0	0	0	0.003954	0	22	17				
CCDC48	79825	broad.mit.edu	37	3	128758636	128758636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:128758636C>T	uc011bkt.1	+	8	1742	c.1742C>T	c.(1741-1743)TCG>TTG	p.S581L		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	coiled-coil domain containing 48	581											0						AGACAGCCCTCGGCACCAGCC	0.667		NaN											0	0	0	0.01441	0	56	48				
MRPS22	56945	broad.mit.edu	37	3	139062910	139062910	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:139062910G>C	uc003etb.2	+	1	50	c.42G>C	c.(40-42)TTG>TTC	p.L14F	MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.L14F|MRPS22_uc003ete.2_5'Flank	NM_020191	NP_064576	P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	14						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(2)|skin(1)	3						GGAGCCTCTTGAGGAGTTCTC	0.602		NaN											0	0	0	0.003954	0	20	30				
ZBTB38	253461	broad.mit.edu	37	3	141162438	141162438	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:141162438G>C	uc003etw.2	+	8	2190	c.1208G>C	c.(1207-1209)GGA>GCA	p.G403A	ZBTB38_uc010hun.2_Missense_Mutation_p.G400A|ZBTB38_uc010huo.2_Missense_Mutation_p.G403A|ZBTB38_uc003ety.2_Missense_Mutation_p.G403A|ZBTB38_uc010hup.2_Missense_Mutation_p.G404A	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	403					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCCATTCCTGGAGGAAACCAA	0.428		NaN											0	0	0	0.01441	0	47	51				
C3orf57	165679	broad.mit.edu	37	3	161064103	161064103	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:161064103C>G	uc003fee.2	-	3	783	c.9G>C	c.(7-9)TTG>TTC	p.L3F		NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	ADMP	3	Cytoplasmic (Potential).				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding				0			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TCACACGCCTCAAATCCATGG	0.403		NaN											0	0	0	0.008361	0	24	33				
MECOM	2122	broad.mit.edu	37	3	168830619	168830619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:168830619C>G	uc003ffi.3	-	8	2238	c.1969G>C	c.(1969-1971)GAG>CAG	p.E657Q	MECOM_uc010hwk.1_Missense_Mutation_p.E680Q|MECOM_uc003ffj.3_Missense_Mutation_p.E722Q|MECOM_uc011bpi.1_Missense_Mutation_p.E658Q|MECOM_uc003ffn.3_Missense_Mutation_p.E657Q|MECOM_uc003ffk.2_Missense_Mutation_p.E657Q|MECOM_uc003ffl.2_Missense_Mutation_p.E817Q|MECOM_uc011bpj.1_Missense_Mutation_p.E845Q|MECOM_uc011bpk.1_Missense_Mutation_p.E647Q|MECOM_uc010hwn.2_Missense_Mutation_p.E845Q	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	657					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						AAGTATTTCTCTTTTAAAGCT	0.353		NaN											0	0	0	0.004878	0	28	43				
KLHL6	89857	broad.mit.edu	37	3	183273151	183273151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:183273151G>T	uc003flr.2	-	1	349	c.291C>A	c.(289-291)TTC>TTA	p.F97L	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.F95L	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	97	BTB.									haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGCTGACCTGAAATAGTTGC	0.502		NaN											1	0	2.01807e-28	0.01441	2.19627e-28	43	72				
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:184870595G>A	uc003fpd.2	-	1	208	c.17C>T	c.(16-18)TCG>TTG	p.S6L		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	6											0						CGACGCCGGCGAGGCCGCCGC	0.716		NaN											0	0	0	0.006122	0	15	19				
TACC3	10460	broad.mit.edu	37	4	1737475	1737475	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1737475G>T	uc003gdo.2	+	8	1770	c.1662G>T	c.(1660-1662)TTG>TTT	p.L554F	TACC3_uc010ibz.2_Missense_Mutation_p.L554F|TACC3_uc003gdp.2_Missense_Mutation_p.L194F|TACC3_uc010ica.2_5'UTR	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	554						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGTCGGCCTTGAGGAAGCAGT	0.607		NaN											1	0	1.79414998630790e-318	0.01441	1.97878231815878e-318	518	302				
FGFR3	2261	broad.mit.edu	37	4	1803377	1803377	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803377G>A	uc003gdr.3	+	6	902	c.646G>A	c.(646-648)GAA>AAA	p.E216K	FGFR3_uc003gdu.2_Missense_Mutation_p.E216K|FGFR3_uc003gds.3_Missense_Mutation_p.E216K|FGFR3_uc003gdq.3_Missense_Mutation_p.E216K|FGFR3_uc010icb.1_Missense_Mutation_p.E58K|FGFR3_uc003gdt.1_Missense_Mutation_p.E58K	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	216	Extracellular (Potential).|Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGGTCATGGAAAGCGTGGT	0.677		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.014323	0	16	288		Valid		
FGFR3	2261	broad.mit.edu	37	4	1803395	1803395	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803395G>A	uc003gdr.3	+	6	920	c.664G>A	c.(664-666)GAC>AAC	p.D222N	FGFR3_uc003gdu.2_Missense_Mutation_p.D222N|FGFR3_uc003gds.3_Missense_Mutation_p.D222N|FGFR3_uc003gdq.3_Missense_Mutation_p.D222N|FGFR3_uc010icb.1_Missense_Mutation_p.D64N|FGFR3_uc003gdt.1_Missense_Mutation_p.D64N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	222	Extracellular (Potential).|Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGTGCCCTCGGACCGCGGCAA	0.672		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.00278	0	15	292		Valid		
FGFR3	2261	broad.mit.edu	37	4	1803435	1803435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803435G>A	uc003gdr.3	+	6	960	c.704G>A	c.(703-705)GGC>GAC	p.G235D	FGFR3_uc003gdu.2_Missense_Mutation_p.G235D|FGFR3_uc003gds.3_Missense_Mutation_p.G235D|FGFR3_uc003gdq.3_Missense_Mutation_p.G235D|FGFR3_uc010icb.1_Missense_Mutation_p.G77D|FGFR3_uc003gdt.1_Missense_Mutation_p.G77D	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	235	Extracellular (Potential).|Ig-like C2-type 2.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	AACAAGTTTGGCAGCATCCGG	0.522		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				0	0	0	0.010729	0	9	270		Valid		
WHSC2	7469	broad.mit.edu	37	4	1985607	1985607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1985607G>A	uc003gem.2	-	9	1543	c.1303C>T	c.(1303-1305)CAG>TAG	p.Q435*	WHSC2_uc003gek.2_Nonsense_Mutation_p.Q161*|WHSC2_uc003gel.2_Nonsense_Mutation_p.Q349*|WHSC2_uc003gen.2_Nonsense_Mutation_p.Q289*	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	424					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GGCTGCTGCTGAGCAGGGGCC	0.672		NaN											0	0	0	0.01441	0	58	39				
POLN	353497	broad.mit.edu	37	4	2129877	2129877	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2129877C>G	uc003ger.2	-	17	1945	c.1945G>C	c.(1945-1947)GAA>CAA	p.E649Q	POLN_uc010icg.1_Missense_Mutation_p.E97Q|POLN_uc010ich.1_Missense_Mutation_p.E181Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	649					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCATCTCTTTCAGATTCCTGG	0.373		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	40	25				
POLN	353497	broad.mit.edu	37	4	2130961	2130961	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2130961C>G	uc003ger.2	-	16	1812	c.1812G>C	c.(1810-1812)ACG>ACC	p.T604T	POLN_uc010icg.1_Silent_p.T52T|POLN_uc010ich.1_Silent_p.T136T	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	604					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCGGGGAGATCGTGAGAATCT	0.393		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	63	46				
POLN	353497	broad.mit.edu	37	4	2130975	2130975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2130975C>T	uc003ger.2	-	16	1798	c.1798G>A	c.(1798-1800)GAC>AAC	p.D600N	POLN_uc010icg.1_Missense_Mutation_p.D48N|POLN_uc010ich.1_Missense_Mutation_p.D132N	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	600					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGAATCTTGTCTTCTTTACCT	0.378		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.01441	0	40	38				
HTT	3064	broad.mit.edu	37	4	3241734	3241734	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:3241734A>G	uc011bvq.1	+	68	9528	c.9383A>G	c.(9382-9384)TAT>TGT	p.Y3128C		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	3126					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGAAGCCCATATCACCGGCTG	0.602		NaN											0	0	0	0.000602	0	4	14				
OTOP1	133060	broad.mit.edu	37	4	4199404	4199404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:4199404G>A	uc003ghp.1	-	5	1187	c.1157C>T	c.(1156-1158)GCC>GTC	p.A386V		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	386					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTTTGCGGGCCGGATTTTT	0.592		NaN											0	0	0	0.005524	0	31	39				
TBC1D14	57533	broad.mit.edu	37	4	6925317	6925317	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:6925317G>A	uc011bwg.1	+	2	280	c.201G>A	c.(199-201)GGG>GGA	p.G67G	TBC1D14_uc003gjs.3_Silent_p.G67G	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	67						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						TGGACTCGGGGATTCCTACCC	0.652		NaN											0	0	0	0.004482	0	7	87				
TBC1D14	57533	broad.mit.edu	37	4	6969065	6969065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:6969065G>C	uc011bwg.1	+	3	836	c.757G>C	c.(757-759)GAC>CAC	p.D253H	TBC1D14_uc003gjs.3_Missense_Mutation_p.D253H	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	253						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						TGCAAGGCTTGACAAACACAA	0.413		NaN											0	0	0	0.008291	0	8	136				
ACOX3	8310	broad.mit.edu	37	4	8396454	8396454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:8396454G>A	uc010idk.2	-	10	1217	c.1072C>T	c.(1072-1074)CCA>TCA	p.P358S	ACOX3_uc003glc.3_Missense_Mutation_p.P358S|ACOX3_uc003gld.3_Missense_Mutation_p.P358S|ACOX3_uc003gle.1_Missense_Mutation_p.P263S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	358					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						GCCAGATATGGAAGCAAGCGC	0.577		NaN											0	0	0	0.00245	0	13	139				
TMEM156	80008	broad.mit.edu	37	4	39000395	39000395	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:39000395G>C	uc003gto.2	-	2	331	c.223C>G	c.(223-225)CTA>GTA	p.L75V	TMEM156_uc010ifj.2_Missense_Mutation_p.L75V	NM_024943	NP_079219	Q8N614	TM156_HUMAN	transmembrane protein 156	75	Extracellular (Potential).					integral to membrane				skin(1)	1						GAGGGATTTAGAAAGATTCTC	0.363		NaN											0	0	0	0.003954	0	18	13				
N4BP2	55728	broad.mit.edu	37	4	40122276	40122276	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:40122276G>C	uc003guy.3	+	9	2883	c.2545G>C	c.(2545-2547)GAG>CAG	p.E849Q	N4BP2_uc010ifq.2_Missense_Mutation_p.E769Q|N4BP2_uc010ifr.2_Missense_Mutation_p.E769Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	849						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						TGAAAGTGTAGAGGATGGCAG	0.358		NaN											0	0	0	0.00874	0	36	45				
FRYL	285527	broad.mit.edu	37	4	48503750	48503750	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:48503750C>G	uc003gyh.1	-	62	9087	c.8482G>C	c.(8482-8484)GAA>CAA	p.E2828Q	FRYL_uc003gye.1_Missense_Mutation_p.E10Q|FRYL_uc003gyf.1_Missense_Mutation_p.E218Q|FRYL_uc003gyg.1_Missense_Mutation_p.E1518Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2828					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AGCTCCAATTCCTAGAAATAA	0.294		NaN											0	0	0	0.01441	0	62	46				
SRP72	6731	broad.mit.edu	37	4	57356772	57356772	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:57356772T>A	uc003hbv.2	+	15	1503	c.1463T>A	c.(1462-1464)ATT>AAT	p.I488N	SRP72_uc010ihe.2_Missense_Mutation_p.I427N|SRP72_uc003hbw.1_Missense_Mutation_p.I249N	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	488					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					GCACAGCTTATTTCTGCTTAC	0.333		NaN											0	0	0	0.005443	0	21	20				
SLC4A4	8671	broad.mit.edu	37	4	72222830	72222830	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:72222830C>A	uc003hfy.2	+	6	773	c.656C>A	c.(655-657)TCC>TAC	p.S219Y	SLC4A4_uc010iic.2_Missense_Mutation_p.S219Y|SLC4A4_uc010iib.2_Missense_Mutation_p.S219Y|SLC4A4_uc003hfz.2_Missense_Mutation_p.S219Y|SLC4A4_uc003hgc.3_Missense_Mutation_p.S175Y|SLC4A4_uc003hga.2_Missense_Mutation_p.S97Y|SLC4A4_uc003hgb.3_Missense_Mutation_p.S175Y	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	219	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACCAAGAAATCCAACCTTCGG	0.483		NaN											1	0	8.87156e-34	0.01441	9.69773e-34	65	73				
GK2	2712	broad.mit.edu	37	4	80328945	80328945	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:80328945A>T	uc003hlu.2	-	1	428	c.410T>A	c.(409-411)GTC>GAC	p.V137D		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	137					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						CTTAGACTTGACGAAGTTACT	0.428		NaN											0	0	0	0.00499	0	16	125				
FAM13A	10144	broad.mit.edu	37	4	89671584	89671584	+	Missense_Mutation	SNP	G	G	C	rs141057688		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:89671584G>C	uc003hse.1	-	15	2139	c.1931C>G	c.(1930-1932)TCT>TGT	p.S644C	FAM13A_uc003hsa.1_Missense_Mutation_p.S115C|FAM13A_uc003hsb.1_Missense_Mutation_p.S318C|FAM13A_uc003hsd.1_Missense_Mutation_p.S318C|FAM13A_uc003hsc.1_Missense_Mutation_p.S304C|FAM13A_uc011cdq.1_Missense_Mutation_p.S290C|FAM13A_uc003hsf.1_Missense_Mutation_p.S230C|FAM13A_uc003hsg.1_Missense_Mutation_p.S115C|FAM13A_uc010ikr.1_Missense_Mutation_p.S140C	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	644					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						CCTCATGAAAGAATGGGAGTT	0.458		NaN											0	0	0	0.005524	0	34	58				
FAM13A	10144	broad.mit.edu	37	4	89671699	89671699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:89671699G>A	uc003hse.1	-	15	2024	c.1816C>T	c.(1816-1818)CAG>TAG	p.Q606*	FAM13A_uc003hsa.1_Nonsense_Mutation_p.Q77*|FAM13A_uc003hsb.1_Nonsense_Mutation_p.Q280*|FAM13A_uc003hsd.1_Nonsense_Mutation_p.Q280*|FAM13A_uc003hsc.1_Nonsense_Mutation_p.Q266*|FAM13A_uc011cdq.1_Nonsense_Mutation_p.Q252*|FAM13A_uc003hsf.1_Nonsense_Mutation_p.Q192*|FAM13A_uc003hsg.1_Nonsense_Mutation_p.Q77*|FAM13A_uc010ikr.1_Nonsense_Mutation_p.Q102*	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	606					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						TCCAGCAGCTGACGGATCAGG	0.592		NaN											0	0	0	0.003954	0	25	46				
ARHGEF38	54848	broad.mit.edu	37	4	106510538	106510538	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:106510538C>G	uc003hxu.2	+	2	476	c.330C>G	c.(328-330)CTC>CTG	p.L110L		NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN	hypothetical protein LOC54848	110	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|breast(1)	3						AGGATTATCTCAATGATCTAG	0.378		NaN											0	0	0	0.005524	0	29	43				
INTS12	57117	broad.mit.edu	37	4	106603932	106603932	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:106603932C>T	uc003hxw.2	-	8	1605	c.1347G>A	c.(1345-1347)CAG>CAA	p.Q449Q	INTS12_uc010ilr.2_Silent_p.Q449Q	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	449					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCTTGACCATCTGTAATCGCT	0.408		NaN											0	0	0	0.01441	0	67	110				
KIAA1109	84162	broad.mit.edu	37	4	123141550	123141550	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:123141550G>C	uc003ieh.2	+	20	2583	c.2538G>C	c.(2536-2538)ATG>ATC	p.M846I	KIAA1109_uc003iei.1_Missense_Mutation_p.M600I|KIAA1109_uc010ins.1_Missense_Mutation_p.M190I|KIAA1109_uc003iej.1_Missense_Mutation_p.M231I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	846					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GTTTTGAAATGAAAAAAGGAT	0.393		NaN											0	0	0	0.014323	0	19	19				
KIAA1109	84162	broad.mit.edu	37	4	123159417	123159417	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:123159417G>A	uc003ieh.2	+	26	3790	c.3745G>A	c.(3745-3747)GAA>AAA	p.E1249K	KIAA1109_uc003iei.1_Missense_Mutation_p.E1002K|KIAA1109_uc010ins.1_Missense_Mutation_p.E592K|KIAA1109_uc003iek.2_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1249					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GTTGGCTGGTGAAAAGGAAAG	0.433		NaN											0	0	0	0.005524	0	34	33				
TTC29	83894	broad.mit.edu	37	4	147754965	147754965	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:147754965G>A	uc003ikw.3	-	9	1197	c.970C>T	c.(970-972)CTG>TTG	p.L324L	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.L350L|TTC29_uc010ipd.1_Silent_p.L324L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	324	TPR 4.						binding				0	all_hematologic(180;0.151)					TACCTCTGCAGGACCTTGGCT	0.448		NaN											0	0	0	0.005524	0	29	32				
CCDC111	201973	broad.mit.edu	37	4	185606792	185606792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:185606792C>T	uc003iwk.2	+	11	1682	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	CCDC111_uc003iwj.2_Missense_Mutation_p.R416W|CCDC111_uc003iwl.2_Missense_Mutation_p.R417W|CCDC111_uc003iwm.2_Missense_Mutation_p.R288W|CCDC111_uc003iwn.2_Missense_Mutation_p.R157W	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	417					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTGTAAATATCGGTGGTGTGA	0.279		NaN											0	0	0	0.01441	0	44	37				
FAM105B	90268	broad.mit.edu	37	5	14690313	14690313	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:14690313C>T	uc003jfk.2	+	6	912	c.760C>T	c.(760-762)CCA>TCA	p.P254S		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	254										ovary(2)	2	Lung NSC(4;0.00696)					AAAGGAAGTACCATTTTTCTC	0.428		NaN											0	0	0	0.007291	0	28	20				
ZNF622	90441	broad.mit.edu	37	5	16453158	16453158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:16453158G>A	uc003jfq.2	-	5	1390	c.1270C>T	c.(1270-1272)CAG>TAG	p.Q424*		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	424						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						CTGTACTGCTGAAGTACTCGG	0.502		NaN											0	0	0	0.012319	0	18	39				
ZFR	51663	broad.mit.edu	37	5	32364311	32364311	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:32364311C>G	uc003jhr.1	-	18	2986	c.2906G>C	c.(2905-2907)AGA>ACA	p.R969T	ZFR_uc010ium.1_Missense_Mutation_p.R100T|ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	969	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		AAAAACTCTTCTCAGTGCATC	0.353		NaN											0	0	0	0.01441	0	51	45				
ADAMTS12	81792	broad.mit.edu	37	5	33751570	33751570	+	Silent	SNP	C	C	T	rs143045075		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:33751570C>T	uc003jia.1	-	3	736	c.573G>A	c.(571-573)CCG>CCA	p.P191P	ADAMTS12_uc010iuq.1_Silent_p.P191P|ADAMTS12_uc003jib.1_Silent_p.P191P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	191					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AAACGATGTGCGGGTGGTACC	0.463		NaN								HNSCC(64;0.19)			0	0	0	0.008361	0	26	70				
C9	735	broad.mit.edu	37	5	39311467	39311467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:39311467G>C	uc003jlv.3	-	7	972	c.883C>G	c.(883-885)CTG>GTG	p.L295V		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	295	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCACATGCAGAAACATTTTT	0.348		NaN											0	0	0	0.010818	0	27	15				
IL31RA	133396	broad.mit.edu	37	5	55178999	55178999	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:55178999C>T	uc003jql.2	+	5	647	c.582C>T	c.(580-582)TTC>TTT	p.F194F	IL31RA_uc003jqk.2_Silent_p.F194F|IL31RA_uc011cqj.1_Silent_p.F52F|IL31RA_uc003jqm.2_Silent_p.F162F|IL31RA_uc003jqn.2_Silent_p.F194F|IL31RA_uc010iwa.1_Silent_p.F162F|IL31RA_uc003jqo.2_Silent_p.F52F	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	162	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CACTTCGATTCAGGACAGTCA	0.388		NaN											0	0	0	0.00623	0	31	13				
SGTB	54557	broad.mit.edu	37	5	64967757	64967757	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:64967757G>C	uc003jud.2	-	10	1008	c.788C>G	c.(787-789)TCA>TGA	p.S263*		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	263							binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GATGAGGCTTGACAGGTCAGT	0.423		NaN											0	0	0	0.007413	0	16	19				
MSH3	4437	broad.mit.edu	37	5	80063775	80063775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:80063775G>C	uc003kgz.2	+	14	2173	c.1920G>C	c.(1918-1920)TTG>TTC	p.L640F		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	640					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGTTCTTCTTGATTGTCAAAA	0.303		NaN						MMR					0	0	0	0.008291	0	8	27				
RHOBTB3	22836	broad.mit.edu	37	5	95067591	95067591	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:95067591G>A	uc003klm.2	+	2	568	c.31G>A	c.(31-33)GAG>AAG	p.E11K	RHOBTB3_uc003klk.1_5'UTR|RHOBTB3_uc003kll.2_Missense_Mutation_p.E11K	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	11	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGGGGAACGAGGGGGACAC	0.652		NaN											0	0	0	0.005443	0	18	42				
RHOBTB3	22836	broad.mit.edu	37	5	95067677	95067677	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:95067677G>C	uc003klm.2	+	2	654	c.117G>C	c.(115-117)GAG>GAC	p.E39D	RHOBTB3_uc003klk.1_5'UTR|RHOBTB3_uc003kll.2_Missense_Mutation_p.E39D	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	39	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCGGGGACGAGAGCAGCTTGT	0.637		NaN											0	0	0	0.012319	0	18	42				
SNCAIP	9627	broad.mit.edu	37	5	121759135	121759135	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:121759135G>A	uc003ksw.1	+	4	909	c.703G>A	c.(703-705)GAA>AAA	p.E235K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.E235K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E282K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E235K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	235					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTCCACTGAAGAAACCGAGAT	0.458		NaN											0	0	0	0.00333	0	23	39				
PPIC	5480	broad.mit.edu	37	5	122364492	122364492	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:122364492G>A	uc003kth.2	-	3	408	c.303C>T	c.(301-303)ATC>ATT	p.I101I	PPIC_uc011cwp.1_3'UTR	NM_000943	NP_000934	P45877	PPIC_HUMAN	peptidylprolyl isomerase C	101	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			ovary(1)	1		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CTCCAGTGGTGATGTCACCTC	0.393		NaN											0	0	0	0.003163	0	13	28				
FNIP1	96459	broad.mit.edu	37	5	131046318	131046318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:131046318G>C	uc003kvs.1	-	7	801	c.659C>G	c.(658-660)TCT>TGT	p.S220C	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Intron|FNIP1_uc010jdm.1_Missense_Mutation_p.S175C|FNIP1_uc003kvu.2_Missense_Mutation_p.S220C	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	220					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)|skin(1)	2		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACCCTGCTCAGAGAATGCCCG	0.527		NaN											0	0	0	0.006122	0	14	12				
PCDHA8	56140	broad.mit.edu	37	5	140222358	140222358	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:140222358G>A	uc003lhs.2	+	1	1452	c.1452G>A	c.(1450-1452)GCG>GCA	p.A484A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A484A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.657		NaN											0	0	0	0.01441	0	44	69				
KIAA0141	9812	broad.mit.edu	37	5	141314121	141314121	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:141314121G>A	uc003lls.2	+	10	1241	c.1119G>A	c.(1117-1119)GTG>GTA	p.V373V	KIAA0141_uc003llt.2_Silent_p.V373V|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	373	TPR 5.				apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAGCTGTGAAATATCTTT	0.507		NaN											0	0	0	0.01441	0	65	31				
ARHGEF37	389337	broad.mit.edu	37	5	148999931	148999931	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:148999931C>T	uc003lra.1	+	8	973	c.909C>T	c.(907-909)TTC>TTT	p.F303F		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	303	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0						TCCTCTACTTCAGGCCGCACG	0.408		NaN											0	0	0	0.010818	0	21	94				
PDGFRB	5159	broad.mit.edu	37	5	149498309	149498309	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:149498309C>A	uc003lro.2	-	21	3373	c.2904_splice	c.e21+1	p.K968_splice	PDGFRB_uc010jhd.2_Splice_Site_p.K807_splice	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta						aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCAACATACCTTTTTGTAA	0.557		NaN	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								1	0	8.72158e-25	0.01441	9.44998e-25	49	33				
FAT2	2196	broad.mit.edu	37	5	150935954	150935954	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:150935954G>C	uc003lue.3	-	3	3597	c.3584C>G	c.(3583-3585)TCT>TGT	p.S1195C	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.S1195C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1195	Extracellular (Potential).|Cadherin 10.				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)			CTGGGCTGTAGATAGGAGACC	0.458		NaN											0	0	0	0.00632	0	23	32				
ATP6V0E1	8992	broad.mit.edu	37	5	172410891	172410891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:172410891C>G	uc003mcd.1	+	1	129	c.28C>G	c.(28-30)CTC>GTC	p.L10V		NM_003945	NP_003936	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0	10	Helical; (Potential).				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACTGTGCCTCTCATTGTGAT	0.617		NaN											0	0	0	0.01441	0	91	180				
HIST1H3D	8351	broad.mit.edu	37	6	26197163	26197163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:26197163C>T	uc003ngv.2	-	2	713	c.316G>A	c.(316-318)GAG>AAG	p.E106K	HIST1H2BF_uc003ngx.2_5'Flank	NM_003530	NP_003521	P68431	H31_HUMAN	histone cluster 1, H3d	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.196)				TTGGTGTCCTCAAACAGCCCC	0.592		NaN											0	0	0	0.01441	0	61	67				
C6orf27	80737	broad.mit.edu	37	6	31735166	31735166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:31735166C>T	uc011dog.1	-	12	2000	c.1762G>A	c.(1762-1764)GAG>AAG	p.E588K	C6orf27_uc003nxd.2_Missense_Mutation_p.E263K	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	588						extracellular region				ovary(3)	3						GGGGTGTCCTCAGCTGTGACC	0.592		NaN											0	0	0	0.01441	0	36	53				
BTNL2	56244	broad.mit.edu	37	6	32362585	32362585	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:32362585G>A	uc003obg.1	-	6	1296	c.1296C>T	c.(1294-1296)GAC>GAT	p.D432D	BTNL2_uc010jty.1_Silent_p.D155D|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.D222D	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2	432	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						AACAAGTGACGTCCACAGCGG	0.498		NaN											0	0	0	0.00245	0	11	140				
TAP1	6890	broad.mit.edu	37	6	32821186	32821186	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:32821186G>A	uc003ocg.2	-	1	563	c.408C>T	c.(406-408)CTC>CTT	p.L136L	TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	136	Helical; Name=2; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1						CCGTTGCCCTGAGGACCCCGC	0.697		NaN											0	0	0	0.001168	0	5	10				
PACSIN1	29993	broad.mit.edu	37	6	34499551	34499551	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:34499551C>G	uc003ojo.2	+	9	1418	c.1212C>G	c.(1210-1212)CTC>CTG	p.L404L	PACSIN1_uc003ojp.2_Silent_p.L404L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	404	SH3.				endocytosis		protein kinase activity				0						AGGACGAGCTCAGCTTTAAGG	0.652		NaN											0	0	0	0.01441	0	46	67				
NFKBIE	4794	broad.mit.edu	37	6	44233167	44233167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233167C>G	uc003oxe.1	-	1	359	c.334G>C	c.(334-336)GAC>CAC	p.D112H		NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	112					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTTGCGGGTCCGCTTGGCAG	0.667		NaN											0	0	0	0.004672	0	2	4				
NFKBIE	4794	broad.mit.edu	37	6	44233256	44233256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233256C>T	uc003oxe.1	-	1	270	c.245G>A	c.(244-246)CGA>CAA	p.R82Q		NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	82					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGACAAGGTTCGGAGCGCTGG	0.642		NaN											0	0	0	0.009096	0	3	5				
NFKBIE	4794	broad.mit.edu	37	6	44233273	44233273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233273C>T	uc003oxe.1	-	1	253	c.228G>A	c.(226-228)TGG>TGA	p.W76*		NM_004556	NP_004547	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene	76					cytoplasmic sequestering of transcription factor		protein binding			breast(2)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGCCAGGTCCACCCAGCGG	0.612		NaN											0	0	0	0.009096	0	3	6				
FAM83B	222584	broad.mit.edu	37	6	54735420	54735420	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:54735420C>A	uc003pck.2	+	2	492	c.376C>A	c.(376-378)CAT>AAT	p.H126N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	126										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCCTTTTTCATCCACCAAG	0.398		NaN											1	0	5.03518e-11	0.007413	5.28159e-11	16	35				
IMPG1	3617	broad.mit.edu	37	6	76734920	76734920	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:76734920T>A	uc003pik.1	-	5	683	c.553A>T	c.(553-555)ATT>TTT	p.I185F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	185					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGTTGAAATGACAATGGTT	0.323		NaN											0	0	0	0.007413	0	15	49				
KIAA1009	22832	broad.mit.edu	37	6	84872884	84872884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:84872884C>T	uc010kbp.2	-	19	2588	c.2491G>A	c.(2491-2493)GAT>AAT	p.D831N	KIAA1009_uc003pkj.3_Missense_Mutation_p.D755N|KIAA1009_uc003pki.3_Missense_Mutation_p.D217N	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	831	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCAATCTGATCTTTGGCTTGG	0.333		NaN											0	0	0	0.007291	0	25	79				
RFPL4B	442247	broad.mit.edu	37	6	112671645	112671645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:112671645C>G	uc003pvx.1	+	3	1047	c.735C>G	c.(733-735)TTC>TTG	p.F245L		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	245	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GTCCATTCTTCTGTCTTGAGC	0.438		NaN											0	0	0	0.003755	0	28	19				
TAAR5	9038	broad.mit.edu	37	6	132909813	132909813	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:132909813C>G	uc003qdk.2	-	1	1065	c.1013G>C	c.(1012-1014)TGA>TCA	p.*338S		NM_003967	NP_003958	O14804	TAAR5_HUMAN	trace amine associated receptor 5	338					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TAGAAGGAATCATTCTTGGTA	0.488		NaN											0	0	0	0.009718	0	32	27				
FBXO30	84085	broad.mit.edu	37	6	146127103	146127103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:146127103C>T	uc003qla.2	-	2	638	c.439G>A	c.(439-441)GAT>AAT	p.D147N	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	147							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GATACTTTATCAGTTGCTTTT	0.403		NaN											0	0	0	0.01441	0	53	36				
RAET1E	135250	broad.mit.edu	37	6	150209697	150209697	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:150209697G>A	uc003qnl.1	-	4	789	c.729C>T	c.(727-729)CTC>CTT	p.L243L	uc003qni.1_Intron|RAET1E_uc003qnj.2_Intron|RAET1E_uc003qnk.1_Silent_p.L207L|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	243	Helical; (Potential).				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGACACAGATGAGAACAATTC	0.473		NaN											0	0	0	0.00874	0	34	71				
RAET1E	135250	broad.mit.edu	37	6	150210554	150210554	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:150210554G>C	uc003qnl.1	-	3	612	c.552C>G	c.(550-552)CTC>CTG	p.L184L	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.L184L|RAET1E_uc003qnk.1_Silent_p.L148L|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	184	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CTCCCTTTGAGAGCTTCCTGA	0.493		NaN											0	0	0	0.005443	0	24	42				
SYNJ2	8871	broad.mit.edu	37	6	158449892	158449892	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:158449892C>T	uc003qqx.1	+	3	394	c.319C>T	c.(319-321)CTT>TTT	p.L107F	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.L107F|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.L56F|SYNJ2_uc010kjo.1_Missense_Mutation_p.L56F	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	107							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTTTACCCTCTTCAGGAAGA	0.502		NaN											0	0	0	0.007291	0	23	16				
RSPH10B2	728194	broad.mit.edu	37	7	5967926	5967926	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:5967926T>C	uc003sph.1	-	20	2604	c.2333A>G	c.(2332-2334)AAA>AGA	p.K778R	RSPH10B2_uc003spg.1_Intron|RSPH10B2_uc010ktd.1_Missense_Mutation_p.K778R|RSPH10B2_uc011jwk.1_3'UTR	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	778										ovary(1)|pancreas(1)|skin(1)	3						TTCTTCACGTTTATACGCATG	0.463		NaN											0	0	0	0.01441	0	28	177				
CDCA7L	55536	broad.mit.edu	37	7	21947797	21947797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:21947797G>A	uc010kuk.2	-	4	752	c.632C>T	c.(631-633)TCA>TTA	p.S211L	CDCA7L_uc003sve.3_Missense_Mutation_p.S177L|CDCA7L_uc010kul.2_Missense_Mutation_p.S165L|CDCA7L_uc003svf.3_Missense_Mutation_p.S210L|CDCA7L_uc011jyk.1_Missense_Mutation_p.S211L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	211					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CAAAGCATCTGAACTCTCCTG	0.498		NaN											0	0	0	0.008291	0	10	10				
URGCP	55665	broad.mit.edu	37	7	43916794	43916794	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:43916794C>G	uc003tiw.2	-	6	2325	c.2268G>C	c.(2266-2268)TTG>TTC	p.L756F	URGCP_uc003tiu.2_Missense_Mutation_p.L713F|URGCP_uc003tiv.2_Missense_Mutation_p.L681F|URGCP_uc003tix.2_Missense_Mutation_p.L747F|URGCP_uc003tiy.2_Missense_Mutation_p.L713F|URGCP_uc003tiz.2_Missense_Mutation_p.L713F|URGCP_uc011kbj.1_Missense_Mutation_p.L713F	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	756					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CCCCACCTATCAAGCCCCCGG	0.597		NaN											0	0	0	0.012319	0	19	21				
OGDH	4967	broad.mit.edu	37	7	44664045	44664045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:44664045C>T	uc003tln.2	+	2	212	c.103C>T	c.(103-105)CAA>TAA	p.Q35*	OGDH_uc003tlm.2_Nonsense_Mutation_p.Q35*|OGDH_uc011kbx.1_Nonsense_Mutation_p.Q35*|OGDH_uc011kby.1_Nonsense_Mutation_p.Q35*|OGDH_uc003tlp.2_Nonsense_Mutation_p.Q35*|OGDH_uc011kbz.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	35					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TAGGACATTTCAACAGATTCG	0.468		NaN											0	0	0	0.01441	0	101	124				
TNS3	64759	broad.mit.edu	37	7	47454805	47454805	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:47454805C>T	uc003tnv.2	-	11	841	c.474_splice	c.e11-1	p.R158_splice	TNS3_uc003tnw.2_Splice_Site_p.R158_splice|TNS3_uc010kyo.1_Splice_Site_p.R158_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3							focal adhesion	protein binding			ovary(4)	4						CTGAACATACCTGCAAAACGG	0.537		NaN											0	0	0	0.003163	0	13	16				
PION	54103	broad.mit.edu	37	7	77011907	77011907	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:77011907C>T	uc003ugf.2	-	7	589	c.510G>A	c.(508-510)CTG>CTA	p.L170L	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	170					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CTTCTGAAATCAGTAACAGAT	0.343		NaN											0	0	0	0.007413	0	13	31				
MAGI2	9863	broad.mit.edu	37	7	77649030	77649030	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:77649030C>T	uc003ugx.2	-	22	4224	c.3970G>A	c.(3970-3972)GCG>ACG	p.A1324T	MAGI2_uc003ugy.2_Missense_Mutation_p.A1310T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1324						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCGGCCGCGCGGCCCTCTGC	0.403		NaN											0	0	0	0.009096	0	4	4				
DBF4	10926	broad.mit.edu	37	7	87529618	87529618	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:87529618G>A	uc003ujf.1	+	9	1267	c.763G>A	c.(763-765)GTA>ATA	p.V255I	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_Missense_Mutation_p.V31I|DBF4_uc011khf.1_Missense_Mutation_p.V22I	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	255					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TCCATTTGATGTAGACAAGCC	0.323		NaN											0	0	0	0.010818	0	26	28				
AKAP9	10142	broad.mit.edu	37	7	91736731	91736731	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:91736731G>C	uc003ulg.2	+	48	11766	c.11541G>C	c.(11539-11541)CAG>CAC	p.Q3847H	AKAP9_uc003ulf.2_Missense_Mutation_p.Q3839H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3470H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1617H|AKAP9_uc003ull.2_Missense_Mutation_p.Q743H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3851					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACCATTTCAGAATAGGTAAG	0.363		NaN	T	BRAF	papillary thyroid								0	0	0	0.008361	0	24	19				
LMTK2	22853	broad.mit.edu	37	7	97822019	97822019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:97822019G>C	uc003upd.1	+	11	2535	c.2242G>C	c.(2242-2244)GAA>CAA	p.E748Q		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	748					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTTCAGACAGAACTTAAGAA	0.343		NaN											0	0	0	0.006122	0	17	12				
MEPCE	56257	broad.mit.edu	37	7	100028615	100028615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100028615G>A	uc003uuw.2	+	1	1087	c.974G>A	c.(973-975)AGG>AAG	p.R325K	ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	bin3, bicoid-interacting 3	325							methyltransferase activity			upper_aerodigestive_tract(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCAACTGCAGGGATGAAGTG	0.627		NaN											0	0	0	0.01441	0	78	110				
ZAN	7455	broad.mit.edu	37	7	100334701	100334701	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100334701C>T	uc003uwj.2	+	5	688	c.523C>T	c.(523-525)CGG>TGG	p.R175W	ZAN_uc003uwk.2_Missense_Mutation_p.R175W|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	175	MAM 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGCCCACCCGGGTAAGGCC	0.657		NaN											0	0	0	0.013537	0	9	0				
ZAN	7455	broad.mit.edu	37	7	100382358	100382358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100382358G>A	uc003uwj.2	+	37	6901	c.6736G>A	c.(6736-6738)GAG>AAG	p.E2246K	ZAN_uc003uwk.2_Missense_Mutation_p.E2246K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.E296K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2246	Extracellular (Potential).|TIL 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCTGCGCTGAGGGCTGCAT	0.612		NaN											0	0	0	0.003954	0	23	36				
MOGAT3	346606	broad.mit.edu	37	7	100843571	100843571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100843571C>T	uc003uyc.2	-	3	399	c.232G>A	c.(232-234)GAG>AAG	p.E78K	MOGAT3_uc010lhr.2_Missense_Mutation_p.E78K	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	78					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					CTTATCCACTCCGAACGCCTT	0.562		NaN											0	0	0	0.01441	0	81	128				
ZC3HC1	51530	broad.mit.edu	37	7	129680905	129680905	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:129680905G>C	uc003vpi.2	-	3	322	c.295C>G	c.(295-297)CCA>GCA	p.P99A	ZC3HC1_uc003vph.2_5'UTR|ZC3HC1_uc010lma.2_5'UTR	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	99					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					CAGACGAGTGGAGACAGCTCA	0.368		NaN											0	0	0	0.01441	0	110	191				
TMEM139	135932	broad.mit.edu	37	7	142983919	142983919	+	Silent	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:142983919T>C	uc010lov.2	+	4	787	c.648T>C	c.(646-648)CCT>CCC	p.P216P	CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|CASP2_uc003wcq.2_5'Flank|TMEM139_uc003wck.3_Silent_p.P216P|TMEM139_uc003wcl.2_Silent_p.P216P|TMEM139_uc003wcm.2_Silent_p.P216P|TMEM139_uc003wcn.2_RNA	NM_153345	NP_699176	Q8IV31	TM139_HUMAN	transmembrane protein 139 precursor	216	Cytoplasmic (Potential).					integral to membrane					0	Melanoma(164;0.059)					GGGCACCCCCTTAAATGACTC	0.378		NaN											0	0	0	0.004672	0	3	164				
ARHGEF35	445328	broad.mit.edu	37	7	143885433	143885433	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:143885433G>A	uc003wdz.1	-	2	162	c.44C>T	c.(43-45)TCT>TTT	p.S15F		NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF)	15											0						CTCTATGGCAGAGATGGGAGG	0.512		NaN											0	0	0	0.00632	0	24	62				
NOS3	4846	broad.mit.edu	37	7	150693932	150693932	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:150693932G>C	uc003wif.2	+	5	797	c.501G>C	c.(499-501)GAG>GAC	p.E167D	NOS3_uc011kuy.1_Intron|NOS3_uc011kuz.1_Missense_Mutation_p.E167D|NOS3_uc011kva.1_Missense_Mutation_p.E167D|NOS3_uc011kvb.1_Missense_Mutation_p.E167D	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	167	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGCTTAGGGAGAGCGAGCTGG	0.692		NaN											0	0	0	0.006214	0	7	11				
MLL3	58508	broad.mit.edu	37	7	151880184	151880184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:151880184C>G	uc003wla.2	-	35	5359	c.5140G>C	c.(5140-5142)GAT>CAT	p.D1714H	MLL3_uc003wkz.2_Missense_Mutation_p.D775H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1714					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCATGGAATCATTTGACATC	0.353		NaN	N		medulloblastoma								0	0	0	0.01441	0	162	215		Valid		
MLL3	58508	broad.mit.edu	37	7	151891214	151891214	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:151891214C>G	uc003wla.2	-	31	4760	c.4541_splice	c.e31-1	p.E1514_splice	MLL3_uc003wkz.2_Splice_Site_p.E575_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCGCCAAGCTCTAGGAGATAA	0.418		NaN	N		medulloblastoma								0	0	0	0.012213	0	30	32		Valid		
DLGAP2	9228	broad.mit.edu	37	8	1645432	1645432	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:1645432C>T	uc003wpl.2	+	11	2773	c.2676C>T	c.(2674-2676)AAC>AAT	p.N892N	DLGAP2_uc003wpm.2_Silent_p.N878N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	971					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCGGCTCAACGACTGGAAGA	0.612		NaN											0	0	0	0.013537	0	9	114				
MFHAS1	9258	broad.mit.edu	37	8	8749555	8749555	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:8749555G>A	uc003wsj.1	-	1	1577	c.1014C>T	c.(1012-1014)ATC>ATT	p.I338I		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	338	LRR 12.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCAGCTCCACGATGGAGTCCG	0.637		NaN											0	0	0	0.01441	0	63	79				
ENTPD4	9583	broad.mit.edu	37	8	23290508	23290508	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:23290508C>T	uc003xdl.2	-	13	1946	c.1782G>A	c.(1780-1782)CGG>CGA	p.R594R	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Silent_p.R586R	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	594	Cytoplasmic (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CCGAGCTGCTCCGGGGAGTGC	0.647		NaN											0	0	0	0.00333	0	22	27				
YTHDF3	253943	broad.mit.edu	37	8	64099964	64099964	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:64099964C>T	uc003xuy.2	+	5	1711	c.1395C>T	c.(1393-1395)TTC>TTT	p.F465F	YTHDF3_uc010lys.2_Silent_p.F409F|YTHDF3_uc003xuz.2_Silent_p.F409F|YTHDF3_uc003xva.2_Silent_p.F409F|YTHDF3_uc011len.1_Silent_p.F409F	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	465	YTH.										0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTTACTCTTCAGTGTGAATG	0.448		NaN											0	0	0	0.004656	0	22	27				
YTHDF3	253943	broad.mit.edu	37	8	64100049	64100049	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:64100049C>G	uc003xuy.2	+	5	1796	c.1480C>G	c.(1480-1482)CAG>GAG	p.Q494E	YTHDF3_uc010lys.2_Missense_Mutation_p.Q438E|YTHDF3_uc003xuz.2_Missense_Mutation_p.Q438E|YTHDF3_uc003xva.2_Missense_Mutation_p.Q438E|YTHDF3_uc011len.1_Missense_Mutation_p.Q438E	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	494	YTH.										0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTCTGGTCTCAGGATAAGTG	0.388		NaN											0	0	0	0.006999	0	31	27				
NCOA2	10499	broad.mit.edu	37	8	71068649	71068649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:71068649G>A	uc003xyn.1	-	11	2113	c.1951C>T	c.(1951-1953)CAG>TAG	p.Q651*		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	651					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTCCATCTGATCAGATTTG	0.567		NaN	T	RUNXBP2	AML								0	0	0	0.01441	0	48	85				
GDAP1	54332	broad.mit.edu	37	8	75272520	75272520	+	Silent	SNP	G	G	T	rs149804782	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:75272520G>T	uc003yah.2	+	3	538	c.459G>T	c.(457-459)CCG>CCT	p.P153P	GDAP1_uc011lfj.1_Silent_p.P38P|GDAP1_uc003yai.2_Silent_p.P85P	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	153	GST C-terminal.					cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCATGATCCCGGCTTATGCAA	0.418		NaN											1	0	3.50607e-19	0.01441	3.74944e-19	42	61				
ZFHX4	79776	broad.mit.edu	37	8	77618708	77618708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:77618708G>A	uc003yav.2	+	2	2772	c.2385G>A	c.(2383-2385)ATG>ATA	p.M795I	ZFHX4_uc003yat.1_Missense_Mutation_p.M795I|ZFHX4_uc003yau.1_Missense_Mutation_p.M795I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M795I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	795						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCATAATATGATGCTTTTGC	0.483		NaN								HNSCC(33;0.089)			0	0	0	0.001984	0	6	13				
ZFHX4	79776	broad.mit.edu	37	8	77763619	77763619	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:77763619G>C	uc003yav.2	+	10	4714	c.4327G>C	c.(4327-4329)GAG>CAG	p.E1443Q	ZFHX4_uc003yau.1_Missense_Mutation_p.E1488Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1443Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGGAAATGGAGAGAGAGTA	0.502		NaN								HNSCC(33;0.089)			0	0	0	0.004656	0	21	30				
UBR5	51366	broad.mit.edu	37	8	103301750	103301750	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:103301750G>T	uc003ykr.1	-	35	4677	c.4644C>A	c.(4642-4644)ATC>ATA	p.I1548I	UBR5_uc003yks.1_Silent_p.I1548I	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1548					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTGACTGGCTGATGCGCCTCT	0.473		NaN											1	0	9.7654e-05	0.007413	0.00010009	14	157				
TRPS1	7227	broad.mit.edu	37	8	116616766	116616766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:116616766G>A	uc003ynz.2	-	3	1850	c.1391C>T	c.(1390-1392)TCA>TTA	p.S464L	TRPS1_uc011lhy.1_Missense_Mutation_p.S468L|TRPS1_uc003yny.2_Missense_Mutation_p.S477L|TRPS1_uc010mcy.2_Missense_Mutation_p.S464L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	464					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAGGCCGCCTGACTGCACTGC	0.433		NaN							Langer-Giedion_syndrome				0	0	0	0.014323	0	20	34				
ASAP1	50807	broad.mit.edu	37	8	131138243	131138243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:131138243G>A	uc003yta.1	-	16	1502	c.1474C>T	c.(1474-1476)CAG>TAG	p.Q492*	ASAP1_uc003ysz.1_Nonsense_Mutation_p.Q303*|ASAP1_uc011liw.1_Nonsense_Mutation_p.Q485*	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	492	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TCCAAAGACTGAATGCGAGAA	0.383		NaN											0	0	0	0.004878	0	33	48				
TOP1MT	116447	broad.mit.edu	37	8	144411592	144411592	+	Silent	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:144411592A>G	uc003yxz.2	-	3	307	c.288T>C	c.(286-288)TAT>TAC	p.Y96Y	TOP1MT_uc011lkd.1_5'UTR|TOP1MT_uc011lke.1_5'UTR|TOP1MT_uc010mfb.2_5'UTR|TOP1MT_uc010mfd.1_5'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	96					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ACATCCTCCCATAAAAAGTGG	0.552		NaN											0	0	0	0.004289	0	30	105				
PSIP1	11168	broad.mit.edu	37	9	15472667	15472667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:15472667G>A	uc003zlv.3	-	10	1270	c.940C>T	c.(940-942)CGA>TGA	p.R314*	PSIP1_uc003zlw.3_Nonsense_Mutation_p.R314*|PSIP1_uc003zlz.3_Nonsense_Mutation_p.R314*|PSIP1_uc003zma.3_Nonsense_Mutation_p.R305*|PSIP1_uc003zly.2_Nonsense_Mutation_p.R314*	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	314	Potential.				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGCGTTTTCGATCTGCTGCT	0.363		NaN											0	0	0	0.004878	0	32	5				
C9orf82	79886	broad.mit.edu	37	9	26884835	26884835	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:26884835G>A	uc003zqc.2	-	4	650	c.638C>T	c.(637-639)TCT>TTT	p.S213F	C9orf82_uc003zqb.2_Missense_Mutation_p.S68F	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	213											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TCCCATCTTAGAACCATCATC	0.294		NaN											0	0	0	0.01441	0	74	11				
NPR2	4882	broad.mit.edu	37	9	35805555	35805555	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:35805555C>G	uc003zyd.2	+	13	1935	c.1935C>G	c.(1933-1935)CTC>CTG	p.L645L	NPR2_uc010mlb.2_Silent_p.L621L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	645	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGGGAGTCTCAAGTCCTCCA	0.488		NaN											0	0	0	0.01441	0	77	9				
SMC5	23137	broad.mit.edu	37	9	72879297	72879297	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:72879297G>C	uc004ahr.2	+	2	380	c.263G>C	c.(262-264)AGC>ACC	p.S88T		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	88					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						GGGAAGTCGAGCATTGTGTGT	0.373		NaN											0	0	0	0.008871	0	14	34				
NFIL3	4783	broad.mit.edu	37	9	94172288	94172288	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:94172288G>A	uc004arh.2	-	2	1124	c.729C>T	c.(727-729)ATC>ATT	p.I243I		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	243					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						AGTTTTGATAGATGGACGCTG	0.488		NaN											0	0	0	0.01441	0	46	8				
ECM2	1842	broad.mit.edu	37	9	95277062	95277062	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:95277062G>C	uc004ash.2	-	4	970	c.905C>G	c.(904-906)TCT>TGT	p.S302C	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.S280C|ECM2_uc011lty.1_Missense_Mutation_p.S302C|ECM2_uc004asg.2_Missense_Mutation_p.S280C	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	302					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						CGGGGATCGAGAGGGCATTCG	0.403		NaN											0	0	0	0.003271	0	31	6				
NANS	54187	broad.mit.edu	37	9	100845193	100845193	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:100845193C>T	uc004ayb.2	+	7	1578	c.936C>T	c.(934-936)CTC>CTT	p.L312L	NANS_uc004ayc.2_Silent_p.L312L|TRIM14_uc004ayd.2_Intron|TRIM14_uc004ayf.1_Intron	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase	312	AFP-like.				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TGGACATGCTCACCGTGAAGG	0.493		NaN											0	0	0	0.004289	0	32	5				
SPTAN1	6709	broad.mit.edu	37	9	131342008	131342008	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:131342008G>A	uc004bvl.3	+	10	1427	c.1314G>A	c.(1312-1314)GTG>GTA	p.V438V	SPTAN1_uc011mbg.1_Silent_p.V438V|SPTAN1_uc011mbh.1_Silent_p.V450V|SPTAN1_uc004bvm.3_Silent_p.V438V|SPTAN1_uc004bvn.3_Silent_p.V438V	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	438	Spectrin 5.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CAGATGAAGTGAGGGAGAAGG	0.428		NaN											0	0	0	0.00499	0	15	1				
OBP2B	29989	broad.mit.edu	37	9	136081794	136081794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:136081794G>A	uc004ccz.2	-	5	440	c.398C>T	c.(397-399)TCT>TTT	p.S133F	OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.S65F	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B precursor	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		GTTGGTATCAGAATTCCTACC	0.612		NaN											0	0	0	0.00333	0	23	5				
CLCN4	1183	broad.mit.edu	37	X	10188910	10188910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:10188910C>T	uc004csy.3	+	12	2615	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	CLCN4_uc011mid.1_Missense_Mutation_p.R635W	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	729	CBS 2.|Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCTGGTGACGCGGAGCGGGTG	0.423		NaN											0	0	0	0.01441	0	47	4				
FAM48B2	170067	broad.mit.edu	37	X	24330063	24330063	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:24330063C>G	uc011mjw.1	-	1	1370	c.1370G>C	c.(1369-1371)GGA>GCA	p.G457A		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	457											0						ATGTTTCTCTCCCTTCCCGGA	0.547		NaN											0	0	0	0.008871	0	16	2				
IL1RAPL1	11141	broad.mit.edu	37	X	29959767	29959767	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:29959767G>C	uc004dby.2	+	9	1566	c.1058_splice	c.e9-1	p.E353_splice		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1						innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TTTCTTTCTAGAGCTAATGTA	0.363		NaN											0	0	0	0.01441	0	99	5				
KDM6A	7403	broad.mit.edu	37	X	44894182	44894182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:44894182C>T	uc004dge.3	+	7	946	c.571C>T	c.(571-573)CAG>TAG	p.Q191*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q191*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	191	TPR 3.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(2)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GCAGCATTTTCAGTTAGCTTT	0.343		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.01441	0	49	2		Valid		
WDR13	64743	broad.mit.edu	37	X	48457331	48457331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:48457331C>T	uc004dkh.1	+	3	415	c.268C>T	c.(268-270)CTT>TTT	p.L90F	WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.L90F|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	90						cytoplasm|nucleus				ovary(2)	2						CCGCACTACTCTTGACCGCAT	0.522		NaN											0	0	0	0.003755	0	31	4				
ITIH5L	347365	broad.mit.edu	37	X	54783589	54783589	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:54783589G>A	uc004dtj.2	-	8	2948	c.2918C>T	c.(2917-2919)TCC>TTC	p.S973F		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	973	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TGTAGGCCTGGAGCTGTTGAG	0.572		NaN											0	0	0	0.005443	0	24	0				
TEX11	56159	broad.mit.edu	37	X	70099855	70099855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:70099855C>A	uc004dyl.2	-	4	349	c.187G>T	c.(187-189)GAA>TAA	p.E63*	TEX11_uc004dym.2_Nonsense_Mutation_p.E48*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	63							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					TCTGTTATTTCAGCCATAGAC	0.313		NaN											1	0	9.31168e-06	0.001855	9.60389e-06	10	20				
MED12	9968	broad.mit.edu	37	X	70360617	70360617	+	Silent	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:70360617A>G	uc004dyy.2	+	42	6376	c.6177A>G	c.(6175-6177)CAA>CAG	p.Q2059Q	MED12_uc004dyz.2_Silent_p.Q2058Q|MED12_uc004dza.2_Silent_p.Q1909Q|MED12_uc010nla.2_Silent_p.Q688Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	2059	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					aacagcagcaacagcaacagc	0.259		NaN											0	0	0	0.003163	0	9	22				
PHKA1	5255	broad.mit.edu	37	X	71843049	71843049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:71843049C>T	uc004eax.3	-	18	2171	c.1870G>A	c.(1870-1872)GAG>AAG	p.E624K	PHKA1_uc004eay.3_Missense_Mutation_p.E624K|PHKA1_uc011mqi.1_Missense_Mutation_p.E624K	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	624					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					AGCTTACCCTCAGGTCCAGGG	0.408		NaN											0	0	0	0.00874	0	38	1				
WDR44	54521	broad.mit.edu	37	X	117566847	117566847	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:117566847C>T	uc004eqn.2	+	13	2266	c.1841C>T	c.(1840-1842)TCA>TTA	p.S614L	WDR44_uc004eqo.2_Missense_Mutation_p.S614L|WDR44_uc011mtr.1_Missense_Mutation_p.S589L|WDR44_uc010nqi.2_Missense_Mutation_p.S324L	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	614	WD 2.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						CTTGATCTTTCATGGTCTAAA	0.284		NaN											0	0	0	0.01441	0	47	4				
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:123197011C>T	uc004etz.3	+	18	2116	c.1777C>T	c.(1777-1779)CAG>TAG	p.Q593*	STAG2_uc004eua.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q593*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q593*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	593					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GCAGTTGCCTCAGTACTTTGA	0.279		NaN											0	0	0	0.004656	0	20	2		Valid		
ODZ1	10178	broad.mit.edu	37	X	124097480	124097480	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:124097480G>A	uc004euj.2	-	1	187	c.123C>T	c.(121-123)AAC>AAT	p.N41N	ODZ1_uc011muj.1_Silent_p.N41N|ODZ1_uc010nqy.2_Silent_p.N41N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	41	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCTCCCTGGAGTTGTATGACT	0.428		NaN											0	0	0	0.01441	0	55	77				
HTATSF1	27336	broad.mit.edu	37	X	135593753	135593753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:135593753G>C	uc004ezw.2	+	10	2271	c.1849G>C	c.(1849-1851)GAG>CAG	p.E617Q	HTATSF1_uc004ezx.2_Missense_Mutation_p.E617Q	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	617	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GGAAGGCTCTGAGAGAGAGTT	0.363		NaN											0	0	0	0.005524	0	33	5				
GABRE	2564	broad.mit.edu	37	X	151123200	151123200	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:151123200G>C	uc004ffi.2	-	9	1548	c.1494C>G	c.(1492-1494)CTC>CTG	p.L498L	GABRE_uc011myd.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	498	Helical; (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCCAGTAGAGCACATTGA	0.547		NaN											0	0	0	0.010729	0	11	3				
MAGEA10	4109	broad.mit.edu	37	X	151303448	151303448	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:151303448C>T	uc004ffk.2	-	5	1053	c.645G>A	c.(643-645)CTG>CTA	p.L215L	MAGEA10_uc004ffl.2_Silent_p.L215L	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	215	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GGACATCACTCAGCATCCCAT	0.522		NaN											0	0	0	0.01441	0	49	8				
BGN	633	broad.mit.edu	37	X	152770152	152770152	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:152770152G>A	uc004fhr.1	+	2	235	c.63G>A	c.(61-63)CAG>CAA	p.Q21Q	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	21						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGAGCAGAGAGGCTTCT	0.642		NaN											0	0	0	0.005524	0	34	1				
BGN	633	broad.mit.edu	37	X	152770154	152770154	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:152770154G>A	uc004fhr.1	+	2	237	c.65G>A	c.(64-66)AGA>AAA	p.R22K	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	22						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGCAGAGAGGCTTCTGG	0.642		NaN											0	0	0	0.010771	0	39	1				
TAF3	83860	broad.mit.edu	37	10	8051117	8051128	+	In_Frame_Del	DEL	GCCCCCGCGCCC	GCCCCCGCGCCC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:8051117_8051128delGCCCCCGCGCCC	uc010qbd.1	+	5	2392_2403	c.2392_2403delGCCCCCGCGCCC	c.(2392-2403)GCCCCCGCGCCCdel	p.APAP798del		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	798_801	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						cccaccgccggcccccgcgcccgcccccggcc	0.25		NaN											NaN	NaN	NaN	NaN	NaN	10	41	---		---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:6867223_6867225delTTC	uc001met.1	+	1	310_312	c.310_312delTTC	c.(310-312)TTCdel	p.F108del		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517		NaN											NaN	NaN	NaN	NaN	NaN	7	97	---		---	---
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:104879687delT	uc010rva.1	-	2	60	c.28delA	c.(28-30)AGGfs	p.R10fs	CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	10					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388		NaN											NaN	NaN	NaN	NaN	NaN	7	30	---		---	---
TP53	7157	broad.mit.edu	37	17	7577562	7577563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:7577562_7577563insT	uc002gim.2	-	7	912_913	c.718_719insA	c.(718-720)AGTfs	p.S240fs	TP53_uc002gig.1_Frame_Shift_Ins_p.S240fs|TP53_uc002gih.2_Frame_Shift_Ins_p.S240fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.S108fs|TP53_uc010cng.1_Frame_Shift_Ins_p.S108fs|TP53_uc002gii.1_Frame_Shift_Ins_p.S108fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.S240fs|TP53_uc010cni.1_Frame_Shift_Ins_p.S240fs|TP53_uc002gij.2_Frame_Shift_Ins_p.S240fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.S147fs|TP53_uc002gio.2_Frame_Shift_Ins_p.S108fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	240	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> T (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> I (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.S240G(14)|p.S240R(8)|p.0?(7)|p.S240I(6)|p.N239_C242delNSSC(3)|p.S240C(3)|p.N239_S240insX(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.H233_C242del10(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239_C242del(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)		CATGCAGGAACTGTTACACATG	0.574		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)			NaN	NaN	NaN	NaN	NaN	71	19	---	Valid	---	---
SALL3	27164	broad.mit.edu	37	18	76752223	76752223	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:76752223delC	uc002lmt.2	+	2	232	c.232delC	c.(232-234)CCCfs	p.P78fs	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAAGCTCCCGCCCGTGCTGAT	0.716		NaN											NaN	NaN	NaN	NaN	NaN	26	18	---		---	---
DAZAP1	26528	broad.mit.edu	37	19	1434776	1434776	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:1434776delC	uc002lsn.2	+	12	1278	c.1089delC	c.(1087-1089)TTCfs	p.F363fs	DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Frame_Shift_Del_p.F362fs|DAZAP1_uc002lsl.1_Frame_Shift_Del_p.F362fs	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	363	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GACAGGGCTTCTCAGACCCCA	0.592		NaN											NaN	NaN	NaN	NaN	NaN	48	67	---		---	---
LRG1	116844	broad.mit.edu	37	19	4538453	4538453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:4538453delG	uc002mau.2	-	2	554	c.543delC	c.(541-543)CCCfs	p.P181fs	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	181	LRR 4.					extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCCCGGGGGGCAGTT	0.622		NaN											NaN	NaN	NaN	NaN	NaN	7	264	---		---	---
SFRS16	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45567607_45567609delCTC	uc002pak.2	+	13	1226_1228	c.1128_1130delCTC	c.(1126-1131)CGCTCC>CGC	p.S385del	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_In_Frame_Del_p.S323del|SFRS16_uc002pam.2_In_Frame_Del_p.S385del	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	385	Ser-rich.|Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAGCCGCCGctcctcctcctcc	0.522		NaN											NaN	NaN	NaN	NaN	NaN	4	9	---		---	---
FGFR3	2261	broad.mit.edu	37	4	1808937	1808937	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1808937delC	uc003gdr.3	+	18	2625	c.2369delC	c.(2368-2370)GCCfs	p.A790fs	FGFR3_uc003gdu.2_Frame_Shift_Del_p.A792fs|FGFR3_uc003gds.3_Frame_Shift_Del_p.A678fs|FGFR3_uc003gdq.3_Frame_Shift_Del_p.C767fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	790	Cytoplasmic (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCGTGTTTGCCCACGACCTG	0.687		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				NaN	NaN	NaN	NaN	NaN	265	83	---	Valid	---	---
GBA3	57733	broad.mit.edu	37	4	22748956	22748956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:22748956delA	uc003gqp.3	+	3	415	c.324delA	c.(322-324)TTAfs	p.L108fs	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Frame_Shift_Del_p.L109fs	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	108					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						ATGATTTGTTAAAAAATGGGG	0.363		NaN											NaN	NaN	NaN	NaN	NaN	12	208	---		---	---
LNX1	84708	broad.mit.edu	37	4	54342918	54342918	+	Splice_Site	DEL	A	A	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:54342918delA	uc003hag.3	-	9	2148	c.1892_splice	c.e9+1	p.R631_splice	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Splice_Site_p.R535_splice|LNX1_uc003hah.3_Splice_Site	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a							cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTGGACTTACCGTGGTAAT	0.532		NaN											NaN	NaN	NaN	NaN	NaN	38	144	---		---	---
ELN	2006	broad.mit.edu	37	7	73477649	73477651	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:73477649_73477651delCCG	uc003tzw.2	+	28	1977_1979	c.1886_1888delCCG	c.(1885-1890)CCCGCC>CCC	p.A636del	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_In_Frame_Del_p.A630del|ELN_uc003tzz.2_In_Frame_Del_p.A549del|ELN_uc003tzo.2_In_Frame_Del_p.A582del|ELN_uc003tzp.2_In_Frame_Del_p.A541del|ELN_uc003tzq.2_In_Frame_Del_p.A494del|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_In_Frame_Del_p.A611del|ELN_uc003tzt.2_In_Frame_Del_p.A635del|ELN_uc003tzu.2_In_Frame_Del_p.A616del|ELN_uc003tzv.2_In_Frame_Del_p.A601del|ELN_uc003tzx.2_In_Frame_Del_p.A620del|ELN_uc011kff.1_In_Frame_Del_p.A630del|ELN_uc003tzy.2_In_Frame_Del_p.A606del	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	692	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGAGCCGGACccgccgccgccgc	0.512		NaN	T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome						NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	uc003zch.2	+	12	1321	c.1267_splice	c.e12+1	p.D423_splice	ADCK5_uc003zcg.2_Intron|ADCK5_uc003zci.2_Splice_Site_p.D12_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5							integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.66		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
