Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
PRKCZ	5590	broad.mit.edu	37	1	2080336	2080336	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:2080336G>T	uc001aiq.2	+	8	821	c.660G>T	c.(658-660)AAG>AAT	p.K220N	PRKCZ_uc001air.2_Missense_Mutation_p.K37N|PRKCZ_uc010nyw.1_Missense_Mutation_p.K116N|PRKCZ_uc001ais.2_Missense_Mutation_p.K37N|PRKCZ_uc009vla.2_Missense_Mutation_p.K44N|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Missense_Mutation_p.K33N	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	220					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CATCCCGGAAGCATGACAGCA	0.562		NA											26	52					1.32e-22	1.4e-22	1	0
CASZ1	54897	broad.mit.edu	37	1	10715871	10715871	+	Splice_Site	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:10715871C>T	uc001aro.2	-	9	1821	c.1501_splice	c.e9-1	p.R501_splice	CASZ1_uc001arp.1_Splice_Site_p.R501_splice|CASZ1_uc009vmx.2_Splice_Site_p.R525_splice	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCGTGAACCTCTGCCAGGAGA	0.632		NA											4	85					0	0	0	0
CLCN6	1185	broad.mit.edu	37	1	11896103	11896103	+	Silent	SNP	C	C	T	rs7412854		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:11896103C>T	uc001ate.3	+	18	1986	c.1873C>T	c.(1873-1875)CTG>TTG	p.L625L	CLCN6_uc010oat.1_Silent_p.L341L|CLCN6_uc010oau.1_Silent_p.L603L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	625	Cytoplasmic (By similarity).|CBS 1.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAGCATCCTGCGCACCAC	0.592		NA											3	53					0	0	0	0
GMEB1	10691	broad.mit.edu	37	1	29029013	29029013	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:29029013C>G	uc001bra.2	+	7	830	c.692C>G	c.(691-693)TCA>TGA	p.S231*	GMEB1_uc001bqz.2_Nonsense_Mutation_p.S221*|GMEB1_uc001brb.2_Nonsense_Mutation_p.S221*	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGGAACTCAGCTCTCACC	0.488		NA											5	104					0	0	0	0
CSMD2	114784	broad.mit.edu	37	1	33992840	33992840	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:33992840C>G	uc001bxn.1	-	64	9787	c.9758G>C	c.(9757-9759)AGA>ACA	p.R3253T	CSMD2_uc001bxm.1_Missense_Mutation_p.R3397T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3253	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTGATGGGTCTCCCACTGGG	0.507		NA											4	138					0	0	0	0
CLSPN	63967	broad.mit.edu	37	1	36226454	36226454	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36226454C>T	uc001bzi.2	-	8	1148	c.1068G>A	c.(1066-1068)ATG>ATA	p.M356I	CLSPN_uc009vux.2_Missense_Mutation_p.M356I	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	356					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCACTGTTCATTTCAGTAG	0.383		NA											6	138					0	0	0	0
CLSPN	63967	broad.mit.edu	37	1	36226773	36226773	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36226773C>G	uc001bzi.2	-	7	1008	c.928G>C	c.(928-930)GAG>CAG	p.E310Q	CLSPN_uc009vux.2_Missense_Mutation_p.E310Q	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	310					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTTATTCTCAGGCATATGA	0.358		NA											8	177					0	0	0	0
CLSPN	63967	broad.mit.edu	37	1	36228043	36228043	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:36228043C>G	uc001bzi.2	-	5	864	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	CLSPN_uc009vux.2_Missense_Mutation_p.E262Q	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	claspin	262					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCCTTCCTCAAATGAATGG	0.388		NA											4	146					0	0	0	0
PPCS	79717	broad.mit.edu	37	1	42925418	42925418	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:42925418C>G	uc001chl.2	+	3	821	c.757C>G	c.(757-759)CAA>GAA	p.Q253E	PPCS_uc001chk.2_Missense_Mutation_p.Q80E	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	253					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTATCAGCATCAAGTGGTGGT	0.408		NA											6	245					0	0	0	0
BEST4	266675	broad.mit.edu	37	1	45250344	45250344	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:45250344C>T	uc001cmm.2	-	8	1154	c.1105G>A	c.(1105-1107)GAG>AAG	p.E369K		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	bestrophin 4	369	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CGCAGAGACTCGGCCGCCGTG	0.657		NA											5	27					0	0	0	0
USP1	7398	broad.mit.edu	37	1	62908868	62908868	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:62908868G>A	uc001daj.1	+	5	763	c.435G>A	c.(433-435)TTG>TTA	p.L145L	USP1_uc001dak.1_Silent_p.L145L|USP1_uc001dal.1_Silent_p.L145L	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	145					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GTTATGAATTGATATGCAGTT	0.358		NA											7	201					0	0	0	0
IL23R	149233	broad.mit.edu	37	1	67635171	67635171	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:67635171G>C	uc001ddo.2	+	3	302	c.217G>C	c.(217-219)GAA>CAA	p.E73Q	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.E30Q|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_5'UTR|IL23R_uc001ddr.2_RNA	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	73	Extracellular (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						TGGCATCAAAGAAAGATTTCA	0.343		NA											9	227					0	0	0	0
LRRC7	57554	broad.mit.edu	37	1	70518708	70518708	+	Splice_Site	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:70518708G>C	uc001dep.2	+	21	4027	c.3997_splice	c.e21-1	p.T1333_splice	LRRC7_uc009wbg.2_Splice_Site_p.T617_splice|LRRC7_uc001deq.2_Splice_Site_p.T527_splice	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TTTTGCAATAGACCCCGTCCC	0.393		NA											8	196					0	0	0	0
ACADM	34	broad.mit.edu	37	1	76215195	76215195	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:76215195G>A	uc001dgw.3	+	9	1230	c.800G>A	c.(799-801)GGA>GAA	p.G267E	ACADM_uc010ord.1_Missense_Mutation_p.G181E|ACADM_uc009wbp.2_Missense_Mutation_p.G271E|ACADM_uc009wbr.2_Missense_Mutation_p.G300E|ACADM_uc010ore.1_Missense_Mutation_p.G231E|ACADM_uc010orf.1_Missense_Mutation_p.G78E|ACADM_uc001dgx.3_Missense_Mutation_p.G181E|ACADM_uc010org.1_Missense_Mutation_p.G137E|ACADM_uc009wbs.1_RNA	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	267			G -> R (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						ATTGGTGACGGAGCTGGTTTC	0.343		NA											14	179					0	0	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178478	90178478	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:90178478G>C	uc001dnl.3	+	3	591	c.349G>C	c.(349-351)GAG>CAG	p.E117Q		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	117						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GATGTGTTATGAGCGAGCCCT	0.453		NA											8	222					0	0	0	0
HFM1	164045	broad.mit.edu	37	1	91841220	91841220	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:91841220C>G	uc001doa.3	-	12	1560	c.1460G>C	c.(1459-1461)AGA>ACA	p.R487T	HFM1_uc010osu.1_Missense_Mutation_p.R166T|HFM1_uc010osv.1_Missense_Mutation_p.R171T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	487							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)		TTTCACTGGTCTATGGCTCTC	0.378		NA											8	286					0	0	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859462	149859462	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:149859462G>A	uc001ete.2	-	1	5	c.5C>T	c.(4-6)TCA>TTA	p.S2L	HIST2H2BE_uc001etc.2_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	2				S->A: Blocks the inhibition of transcription by RPS6KA5/MSK1.	nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|breast(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TCCGCGTCCTGACATTACGGC	0.537		NA											12	263					0	0	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204833	151204833	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:151204833G>A	uc001exj.2	+	6	930	c.478G>A	c.(478-480)GAT>AAT	p.D160N	PIP5K1A_uc001exi.2_Missense_Mutation_p.D147N|PIP5K1A_uc010pcu.1_Missense_Mutation_p.D148N|PIP5K1A_uc001exk.2_Missense_Mutation_p.D147N|PIP5K1A_uc010pcv.1_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	160	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCGGCCCGATGATTACTTGGT	0.498		NA											9	284					0	0	0	0
TCHH	7062	broad.mit.edu	37	1	152083217	152083217	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152083217C>G	uc001ezp.2	-	2	2476	c.2476G>C	c.(2476-2478)GAG>CAG	p.E826Q	TCHH_uc009wne.1_Missense_Mutation_p.E826Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	826					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCCCTCTCGCGTCGCTGG	0.687		NA											6	173					0	0	0	0
TCHH	7062	broad.mit.edu	37	1	152083788	152083788	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152083788C>G	uc001ezp.2	-	2	1905	c.1905G>C	c.(1903-1905)AAG>AAC	p.K635N	TCHH_uc009wne.1_Missense_Mutation_p.K635N	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	635	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCTCGCTCTTCAGCAGCT	0.672		NA											5	157					0	0	0	0
FLG2	388698	broad.mit.edu	37	1	152323783	152323783	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:152323783G>C	uc001ezw.3	-	3	6552	c.6479C>G	c.(6478-6480)TCT>TGT	p.S2160C	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2160	Filaggrin 10.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGACCAGACTGGCCATG	0.512		NA											8	571					0	0	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066128	153066128	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:153066128C>G	uc001fbh.2	-	2	161	c.100G>C	c.(100-102)GAG>CAG	p.E34Q	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	small proline-rich protein 2E	34	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.|2.				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCAGGGCTCAGGGCACTTC	0.617		NA											10	531					0	0	0	0
ASH1L	55870	broad.mit.edu	37	1	155327111	155327111	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155327111C>T	uc009wqq.2	-	15	7546	c.7066G>A	c.(7066-7068)GAA>AAA	p.E2356K	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2351K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2356					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTACCTTTCACGATTGGAC	0.363		NA											6	159					0	0	0	0
ASH1L	55870	broad.mit.edu	37	1	155448995	155448995	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155448995C>G	uc009wqq.2	-	3	4146	c.3666G>C	c.(3664-3666)AAG>AAC	p.K1222N	ASH1L_uc001fkt.2_Missense_Mutation_p.K1222N|ASH1L_uc009wqr.1_Missense_Mutation_p.K1222N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1222					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATGCCTCCTCTTTTTTTGCC	0.413		NA											85	206					0	0	0	0
ASH1L	55870	broad.mit.edu	37	1	155449016	155449016	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449016C>G	uc009wqq.2	-	3	4125	c.3645G>C	c.(3643-3645)GAG>GAC	p.E1215D	ASH1L_uc001fkt.2_Missense_Mutation_p.E1215D|ASH1L_uc009wqr.1_Missense_Mutation_p.E1215D	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1215					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACAAAATTTCTCTGCCCTGT	0.418		NA											73	192					0	0	0	0
ASH1L	55870	broad.mit.edu	37	1	155449680	155449680	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449680C>G	uc009wqq.2	-	3	3461	c.2981G>C	c.(2980-2982)AGA>ACA	p.R994T	ASH1L_uc001fkt.2_Missense_Mutation_p.R994T|ASH1L_uc009wqr.1_Missense_Mutation_p.R994T	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	994					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGTTTCTTTCTCTTTAAAGT	0.323		NA											23	65					0	0	0	0
ASH1L	55870	broad.mit.edu	37	1	155449745	155449745	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449745C>G	uc009wqq.2	-	3	3396	c.2916G>C	c.(2914-2916)AAG>AAC	p.K972N	ASH1L_uc001fkt.2_Missense_Mutation_p.K972N|ASH1L_uc009wqr.1_Missense_Mutation_p.K972N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	972					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATTGTTTCTCTTGGTAATTT	0.343		NA											50	101					0	0	0	0
ASH1L	55870	broad.mit.edu	37	1	155449774	155449774	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:155449774C>G	uc009wqq.2	-	3	3367	c.2887G>C	c.(2887-2889)GAG>CAG	p.E963Q	ASH1L_uc001fkt.2_Missense_Mutation_p.E963Q|ASH1L_uc009wqr.1_Missense_Mutation_p.E963Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	963					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGTTCCATCTCAAGGTCACTC	0.353		NA											76	150					0	0	0	0
SEMA4A	64218	broad.mit.edu	37	1	156142792	156142792	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:156142792G>A	uc001fnl.2	+	11	1414	c.1310G>A	c.(1309-1311)GGA>GAA	p.G437E	SEMA4A_uc009wrq.2_Missense_Mutation_p.G437E|SEMA4A_uc001fnm.2_Missense_Mutation_p.G437E|SEMA4A_uc001fnn.2_Missense_Mutation_p.G305E|SEMA4A_uc001fno.2_Missense_Mutation_p.G437E	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	437	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					ATGTACCTGGGAACCAGTGAG	0.547		NA											5	58					0	0	0	0
IFI16	3428	broad.mit.edu	37	1	159002440	159002440	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:159002440C>G	uc001ftg.2	+	7	1578	c.1288C>G	c.(1288-1290)CAG>GAG	p.Q430E	IFI16_uc010pis.1_Missense_Mutation_p.Q374E|IFI16_uc001fth.2_Missense_Mutation_p.Q29E|IFI16_uc010pit.1_Missense_Mutation_p.Q29E	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	430					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					TCGGACTCCTCAGATGCCACC	0.512		NA											11	188					0	0	0	0
ATP1A4	480	broad.mit.edu	37	1	160128899	160128899	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:160128899C>G	uc001fve.3	+	5	1112	c.633C>G	c.(631-633)CTC>CTG	p.L211L	ATP1A4_uc001fvf.3_RNA	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	211	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTGACCTCCGGCTTATCT	0.532		NA											5	132					0	0	0	0
ATP1A4	480	broad.mit.edu	37	1	160147443	160147443	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:160147443G>A	uc001fve.3	+	18	3204	c.2725G>A	c.(2725-2727)GGA>AGA	p.G909R	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.G412R|ATP1A4_uc001fvh.2_Missense_Mutation_p.G45R	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	909	Extracellular (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACAGCTACGGACAGCAGTG	0.488		NA											41	95					0	0	0	0
FMO2	2327	broad.mit.edu	37	1	171178065	171178065	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:171178065C>G	uc001ghk.1	+	9	1506	c.1389C>G	c.(1387-1389)CTC>CTG	p.L463L	FMO2_uc010pmd.1_Silent_p.L243L	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	463					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGTGAGACTCTATTTCGGAC	0.478		NA											14	533					0	0	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155684	173155684	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:173155684G>C	uc001giw.2	-	3	679	c.523C>G	c.(523-525)CAA>GAA	p.Q175E	TNFSF4_uc001giv.2_Missense_Mutation_p.Q125E	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	175	Extracellular (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1						CCAGGATTTTGATGGATAAGA	0.468		NA											4	117					0	0	0	0
ASTN1	460	broad.mit.edu	37	1	176993782	176993782	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:176993782G>C	uc001glc.2	-	6	1419	c.1207C>G	c.(1207-1209)CAC>GAC	p.H403D	ASTN1_uc001glb.1_Missense_Mutation_p.H403D|ASTN1_uc001gld.1_Missense_Mutation_p.H403D|ASTN1_uc009wwx.1_Missense_Mutation_p.H403D|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	403					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CAGTTGACGTGAGAGGAGCAC	0.552		NA											5	84					0	0	0	0
ASPM	259266	broad.mit.edu	37	1	197072981	197072981	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:197072981T>A	uc001gtu.2	-	18	5657	c.5400A>T	c.(5398-5400)CAA>CAT	p.Q1800H	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1800					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTTTTTTGACTTGCAAGAAGT	0.368		NA											93	146					0	0	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379825	204379825	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:204379825G>C	uc001hav.3	-	1	1120	c.715C>G	c.(715-717)CAG>GAG	p.Q239E		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	239					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCACTGTTCTGATAGCTGACT	0.507		NA											6	210					0	0	0	0
NEK2	4751	broad.mit.edu	37	1	211842543	211842543	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:211842543G>A	uc001hir.1	-	6	1043	c.897C>T	c.(895-897)TCC>TCT	p.S299S	NEK2_uc001hiq.1_Silent_p.S299S|NEK2_uc001his.3_Silent_p.S299S|NEK2_uc001hit.1_RNA	NM_002497	NP_002488	P51955	NEK2_HUMAN	NIMA-related kinase 2	299	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATACAGGGCTGGAATCCTGCG	0.443		NA											16	424					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214171409	214171409	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:214171409T>C	uc001hkh.2	+	2	1803	c.1531T>C	c.(1531-1533)TCT>CCT	p.S511P	PROX1_uc001hkg.1_Missense_Mutation_p.S511P	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	511					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGACAGAGCCTCTCCTGAATC	0.562		NA											5	211					0	0	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984046	223984046	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:223984046G>C	uc010pvb.1	-	13	2487	c.2195C>G	c.(2194-2196)TCT>TGT	p.S732C	TP53BP2_uc001hod.2_Missense_Mutation_p.S603C|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.S371C	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	726					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		TGGTGCGTTAGACAGTTTCTT	0.438		NA											6	261					0	0	0	0
OBSCN	84033	broad.mit.edu	37	1	228480247	228480247	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:228480247G>T	uc009xez.1	+	40	10671	c.10627G>T	c.(10627-10629)GAT>TAT	p.D3543Y	OBSCN_uc001hsn.2_Missense_Mutation_p.D3543Y|OBSCN_uc001hsq.1_Missense_Mutation_p.D799Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3543	Ig-like 36.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GTTCATAGAAGATGTGAAAAA	0.567		NA											9	152					1.34e-11	1.41e-11	1	0
C1orf96	126731	broad.mit.edu	37	1	229462743	229462743	+	Silent	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:229462743C>A	uc001htl.3	-	3	456	c.378G>T	c.(376-378)GTG>GTT	p.V126V	C1orf96_uc009xfc.2_RNA	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN	hypothetical protein LOC126731	126						centrosome					0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CTACATCTTTCACTGGCAGTG	0.328		NA											52	118					6.08e-21	6.44e-21	1	0
LYST	1130	broad.mit.edu	37	1	235972988	235972988	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:235972988C>G	uc001hxj.2	-	5	1305	c.1130G>C	c.(1129-1131)AGA>ACA	p.R377T	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R377T	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	377					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTCTTTTGTCTTGGTGCAAA	0.378		NA							Chediak-Higashi_syndrome				10	281					0	0	0	0
OR2T4	127074	broad.mit.edu	37	1	248525533	248525533	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr1:248525533G>A	uc001ieh.1	+	1	651	c.651G>A	c.(649-651)TTG>TTA	p.L217L		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	217	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCTGTATTGAATCTCTCCT	0.478		NA											13	282					0	0	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316406	30316406	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:30316406C>G	uc001iux.2	-	2	2730	c.2671G>C	c.(2671-2673)GAG>CAG	p.E891Q	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.E753Q|KIAA1462_uc009xle.1_Missense_Mutation_p.E891Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	891										ovary(4)	4						GGCTGTGGCTCAACCCTCATT	0.602		NA											4	166					0	0	0	0
MAP3K8	1326	broad.mit.edu	37	10	30749691	30749691	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:30749691C>G	uc001ivi.1	+	9	2026	c.1330C>G	c.(1330-1332)CTC>GTC	p.L444V	MAP3K8_uc009xlf.1_Missense_Mutation_p.L444V|MAP3K8_uc001ivj.1_Missense_Mutation_p.L444V	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	444			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				GCAACGCTCTCTCTACATCGA	0.463		NA											7	180					0	0	0	0
ITGB1	3688	broad.mit.edu	37	10	33200866	33200866	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:33200866G>A	uc001iws.3	-	12	1792	c.1656C>T	c.(1654-1656)TTC>TTT	p.F552F	ITGB1_uc001iwp.3_Silent_p.F552F|ITGB1_uc001iwq.3_Silent_p.F552F|ITGB1_uc001iwr.3_Silent_p.F552F|ITGB1_uc001iwt.3_Silent_p.F552F|ITGB1_uc001iwu.1_Silent_p.F552F	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	552	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CACACTCGCAGAATTTGCCAG	0.398		NA											14	262					0	0	0	0
POLR3A	11128	broad.mit.edu	37	10	79737257	79737257	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:79737257G>C	uc001jzn.2	-	31	4246	c.4152C>G	c.(4150-4152)TTC>TTG	p.F1384L		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1384					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGGGGATGTGGAATTCATTTG	0.517		NA											11	207					0	0	0	0
POLR3A	11128	broad.mit.edu	37	10	79737319	79737319	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:79737319G>A	uc001jzn.2	-	31	4184	c.4090C>T	c.(4090-4092)CAC>TAC	p.H1364Y		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1364					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCAGCCTTGTGAAGCAGCTTG	0.512		NA											9	175					0	0	0	0
PNLIP	5406	broad.mit.edu	37	10	118306823	118306823	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:118306823G>A	uc001lcm.2	+	3	107	c.64G>A	c.(64-66)GAA>AAA	p.E22K		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	22					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGTTTGCTACGAAAGACTCGG	0.423		NA											6	141					0	0	0	0
TACC2	10579	broad.mit.edu	37	10	124001494	124001494	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:124001494G>C	uc001lfv.2	+	19	8730	c.8370G>C	c.(8368-8370)GAG>GAC	p.E2790D	TACC2_uc001lfw.2_Missense_Mutation_p.E936D|TACC2_uc009xzx.2_Missense_Mutation_p.E2668D|TACC2_uc010qtv.1_Missense_Mutation_p.E2717D|TACC2_uc001lfx.2_Missense_Mutation_p.E417D|TACC2_uc001lfy.2_Missense_Mutation_p.E413D|TACC2_uc001lfz.2_Missense_Mutation_p.E868D|TACC2_uc001lga.2_Missense_Mutation_p.E838D|TACC2_uc009xzy.2_Missense_Mutation_p.E850D|TACC2_uc001lgb.2_Missense_Mutation_p.E748D	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2790	Potential.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCGAGTATGAGAAGACCATCG	0.522		NA											9	184					0	0	0	0
CPXM2	119587	broad.mit.edu	37	10	125516751	125516751	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:125516751G>A	uc001lhk.1	-	12	2220	c.1895C>T	c.(1894-1896)TCT>TTT	p.S632F	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	632					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CACGATCAGAGATTCCCGGTT	0.537		NA											7	198					0	0	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135096618	135096618	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr10:135096618G>A	uc001lmg.1	-	15	2610	c.2253C>T	c.(2251-2253)CTC>CTT	p.L751L	TUBGCP2_uc001lmf.1_Silent_p.L344L|TUBGCP2_uc010qvc.1_Silent_p.L779L|TUBGCP2_uc009ybk.1_Silent_p.L774L|TUBGCP2_uc010qvd.1_Silent_p.L621L|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	751					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				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)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACACAGACATGAGCTTGGAGA	0.612		NA											7	123					0	0	0	0
CDHR5	53841	broad.mit.edu	37	11	621851	621851	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:621851G>A	uc001lqj.2	-	4	471	c.366C>T	c.(364-366)CCC>CCT	p.P122P	CDHR5_uc001lqk.2_Silent_p.P122P|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Silent_p.P122P|CDHR5_uc001lql.2_Silent_p.P122P|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Intron	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	122	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						AGGGGAATTCGGGGGCATTGT	0.637		NA											8	98					0	0	0	0
MUC6	4588	broad.mit.edu	37	11	1017138	1017138	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1017138G>A	uc001lsw.2	-	31	5714	c.5663C>T	c.(5662-5664)TCC>TTC	p.S1888F		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1888	Thr-rich.|2.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGTGGGTGGACCCTGTGGC	0.567		NA											97	622					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1271273	1271273	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1271273C>T	uc009ycr.1	+	51	14708	c.14582C>T	c.(14581-14583)ACG>ATG	p.T4861M	MUC5B_uc001ltb.2_Missense_Mutation_p.T4391M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4388	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCGGGGACGACCTGGATC	0.662		NA											6	124					0	0	0	0
BRSK2	9024	broad.mit.edu	37	11	1467115	1467115	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:1467115G>A	uc001lti.2	+	12	1590	c.1204G>A	c.(1204-1206)GAG>AAG	p.E402K	BRSK2_uc009ycv.1_Missense_Mutation_p.E402K|BRSK2_uc001lth.1_Missense_Mutation_p.E402K|BRSK2_uc001ltj.2_Missense_Mutation_p.E402K|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.E402K|BRSK2_uc001ltm.2_Missense_Mutation_p.E448K|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	402					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCGGGCCATTGAGATGGCCCA	0.716		NA											4	107					0	0	0	0
NUP98	4928	broad.mit.edu	37	11	3784171	3784171	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:3784171G>C	uc001lyh.2	-	9	1338	c.1047C>G	c.(1045-1047)CTC>CTG	p.L349L	NUP98_uc001lyi.2_Silent_p.L349L|NUP98_uc001lyj.1_Silent_p.L349L|NUP98_uc001lyk.1_Silent_p.L349L	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	349	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCTGCCCAAAGAGACCTGTTC	0.443		NA	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								6	193					0	0	0	0
OR52D1	390066	broad.mit.edu	37	11	5510656	5510656	+	Silent	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:5510656T>C	uc010qzg.1	+	1	720	c.720T>C	c.(718-720)GCT>GCC	p.A240A	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	240	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACAAAGCTCTGAGTACCT	0.512		NA											8	279					0	0	0	0
C11orf42	160298	broad.mit.edu	37	11	6231403	6231403	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6231403G>C	uc001mcj.2	+	2	444	c.396G>C	c.(394-396)AAG>AAC	p.K132N		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	132										ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGCGCAAGAAGGTTGCCT	0.552		NA											6	210					0	0	0	0
CCKBR	887	broad.mit.edu	37	11	6291978	6291978	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6291978C>T	uc001mcp.2	+	4	949	c.756C>T	c.(754-756)GAC>GAT	p.D252D	CCKBR_uc001mcq.2_Silent_p.D180D|CCKBR_uc001mcr.2_Silent_p.D252D|CCKBR_uc001mcs.2_Silent_p.D252D|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	252	Cytoplasmic (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)	TTCGCTTTGACGGCGACAGTG	0.602		NA											61	79					0	0	0	0
RRP8	23378	broad.mit.edu	37	11	6621416	6621416	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:6621416G>C	uc001med.2	-	7	1410	c.1331C>G	c.(1330-1332)TCA>TGA	p.S444*		NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	444					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						CTGCAGGCCTGAAAGCTGAGC	0.537		NA											6	128					0	0	0	0
LYVE1	10894	broad.mit.edu	37	11	10585492	10585492	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:10585492G>A	uc001miv.2	-	3	678	c.392C>T	c.(391-393)TCA>TTA	p.S131L	uc001miu.2_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor	131	Extracellular (Potential).				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|skin(1)	2				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CTCACCAGATGAGTTGTAACA	0.507		NA											5	83					0	0	0	0
CCDC34	91057	broad.mit.edu	37	11	27384412	27384412	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:27384412C>T	uc001mrh.1	-	1	384	c.330G>A	c.(328-330)CTG>CTA	p.L110L	CCDC34_uc001mri.1_Silent_p.L110L	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	110											0						CCATTCCTCTCAGGCTCGCCA	0.562		NA											9	215					0	0	0	0
CREB3L1	90993	broad.mit.edu	37	11	46321584	46321584	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:46321584G>C	uc001ncf.2	+	2	636	c.201G>C	c.(199-201)AAG>AAC	p.K67N		NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	67	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		TGGATGAGAAGAGCCCTCTAT	0.577		NA	T	FUS	myxofibrosarcoma								17	45					0	0	0	0
NUP160	23279	broad.mit.edu	37	11	47810131	47810131	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:47810131C>T	uc001ngm.2	-	30	3629	c.3544G>A	c.(3544-3546)GAT>AAT	p.D1182N	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1182					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						TTCTCCAGATCTTCCAGTTCC	0.413		NA											5	100					0	0	0	0
OR4C12	283093	broad.mit.edu	37	11	50003785	50003785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:50003785G>A	uc010ria.1	-	1	253	c.253C>T	c.(253-255)CAA>TAA	p.Q85*		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TTCTTCTCTTGAAAGGAATCC	0.443		NA											76	125					0	0	0	0
SSSCA1	10534	broad.mit.edu	37	11	65338884	65338884	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:65338884C>G	uc001oek.2	+	4	299	c.279C>G	c.(277-279)CTC>CTG	p.L93L	FAM89B_uc001oen.2_5'Flank|FAM89B_uc001oem.2_5'Flank|FAM89B_uc001oel.2_5'Flank	NM_006396	NP_006387	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	93					cell division|mitosis		protein binding			ovary(1)|skin(1)	2						AGGCTGCCCTCTCCCAAGCTC	0.632		NA											10	158					0	0	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638808	65638808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:65638808C>A	uc001ofy.3	-	4	381	c.187G>T	c.(187-189)GAG>TAG	p.E63*	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Nonsense_Mutation_p.E63*	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	63	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		TTGCAGGCCTCAGGGATGGTC	0.647		NA											12	236					2.27e-07	2.37e-07	1	0
SYT12	91683	broad.mit.edu	37	11	66811231	66811231	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:66811231C>T	uc009yrl.2	+	5	974	c.744C>T	c.(742-744)AAC>AAT	p.N248N	SYT12_uc001oju.2_Silent_p.N248N	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	248	C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						ATGAGCGCAACGTCAGCACGG	0.547		NA											9	165					0	0	0	0
POLD4	57804	broad.mit.edu	37	11	67120197	67120197	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:67120197C>T	uc001okm.2	-	3	411	c.264G>A	c.(262-264)CTG>CTA	p.L88L	LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.2_RNA|POLD4_uc001oko.2_RNA|POLD4_uc001okp.1_3'UTR	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	DNA-directed DNA polymerase delta 4	88					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			GGTGGGTCTTCAGCACCTGCC	0.662		NA											10	101					0	0	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74914390	74914390	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:74914390G>T	uc001owb.2	+	13	2254	c.1867G>T	c.(1867-1869)GAC>TAC	p.D623Y	SLCO2B1_uc010rrr.1_Missense_Mutation_p.D479Y|SLCO2B1_uc010rrs.1_Missense_Mutation_p.D507Y|SLCO2B1_uc001owc.2_Missense_Mutation_p.D396Y|SLCO2B1_uc001owd.2_Missense_Mutation_p.D601Y	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	623	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	CAGCGCCATCGACACCACCTG	0.632		NA											86	141					7.75e-53	8.24e-53	1	0
MMP3	4314	broad.mit.edu	37	11	102713291	102713291	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:102713291C>G	uc001phj.1	-	3	435	c.370G>C	c.(370-372)GAT>CAT	p.D124H		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	124		Calcium 1.			collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TTTGGCAAATCTGGTGTATAA	0.398		NA											6	201					0	0	0	0
BCO2	83875	broad.mit.edu	37	11	112050030	112050030	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr11:112050030C>G	uc001pnf.2	+	2	235	c.118C>G	c.(118-120)CAG>GAG	p.Q40E	BCO2_uc001pne.1_Intron|BCO2_uc001png.2_Missense_Mutation_p.Q40E|BCO2_uc001pnh.2_Missense_Mutation_p.Q6E|BCO2_uc010rwt.1_Intron|BCO2_uc009yyn.2_Missense_Mutation_p.Q6E|BCO2_uc001pni.2_Missense_Mutation_p.Q6E	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	40					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AAATACTCCTCAGAAAAAAGC	0.478		NA											48	38					0	0	0	0
LRTM2	654429	broad.mit.edu	37	12	1943732	1943732	+	Missense_Mutation	SNP	G	G	A	rs146537358	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:1943732G>A	uc001qjt.2	+	5	1764	c.958G>A	c.(958-960)GTC>ATC	p.V320I	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.V320I|LRTM2_uc010sdx.1_Missense_Mutation_p.V320I|LRTM2_uc001qjv.2_Missense_Mutation_p.V82I	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	320	Helical; (Potential).					integral to membrane		p.V320I(1)		large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CGTGTGCGGCGTCGTCTGCAT	0.657		NA											18	171					0	0	0	0
DYRK4	8798	broad.mit.edu	37	12	4705861	4705861	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:4705861C>T	uc001qmx.2	+	6	686	c.526C>T	c.(526-528)CGC>TGC	p.R176C	DYRK4_uc009zeh.1_Missense_Mutation_p.R291C|DYRK4_uc001qmy.1_Missense_Mutation_p.R176C	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	176	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			TTTCTACTTTCGCAATCACTT	0.443		NA											42	124					0	0	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375318	8375318	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:8375318G>A	uc001qui.2	-	7	1054	c.495C>T	c.(493-495)CTC>CTT	p.L165L	FAM90A1_uc001quh.2_Silent_p.L165L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	165							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		AGCGATCAGAGAGGACAGGGT	0.547		NA											6	158					0	0	0	0
DDN	23109	broad.mit.edu	37	12	49391846	49391846	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:49391846C>G	uc001rsv.1	-	2	831	c.813G>C	c.(811-813)AAG>AAC	p.K271N	uc001rsw.2_5'Flank	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	271						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		p.K217K(1)		large_intestine(1)	1						GATCCAGCCTCTTCTTTGTGC	0.657		NA											6	270					0	0	0	0
PRPH	5630	broad.mit.edu	37	12	49690818	49690818	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:49690818G>A	uc001rtu.2	+	4	924	c.849G>A	c.(847-849)GCG>GCA	p.A283A		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	283	Coil 2.|Rod.						structural molecule activity				0						TGCAGGAGGCGGAGGAGTGGT	0.672		NA									OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	0	0
AAAS	8086	broad.mit.edu	37	12	53702757	53702757	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53702757G>A	uc001scr.3	-	10	1146	c.983C>T	c.(982-984)TCA>TTA	p.S328L	AAAS_uc001scs.3_Missense_Mutation_p.S295L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	328					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						ACAGCGCCCTGATAGAGTAGG	0.522		NA											16	439					0	0	0	0
AAAS	8086	broad.mit.edu	37	12	53702953	53702953	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:53702953G>A	uc001scr.3	-	9	1086	c.923C>T	c.(922-924)TCA>TTA	p.S308L	AAAS_uc001scs.3_Missense_Mutation_p.S275L	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	308	WD 4.				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						AAAGACAGCTGAAGGAGTGGT	0.577		NA											26	583					0	0	0	0
TIMELESS	8914	broad.mit.edu	37	12	56812008	56812008	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:56812008C>G	uc001slf.2	-	27	3532	c.3364G>C	c.(3364-3366)GAT>CAT	p.D1122H		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	1122					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TGCTCCTCATCAGAGCCTTGC	0.582		NA											23	846					0	0	0	0
GPR182	11318	broad.mit.edu	37	12	57389816	57389816	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:57389816C>A	uc001smk.2	+	2	917	c.823C>A	c.(823-825)CAT>AAT	p.H275N	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	275	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						GCTGCCCTATCATGTGACCCT	0.607		NA											11	519					0.00010058	0.000103112	1	0
PPM1H	57460	broad.mit.edu	37	12	63225906	63225906	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:63225906C>T	uc001srk.3	-	2	548	c.399G>A	c.(397-399)CTG>CTA	p.L133L		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	133							phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AGTTCTCCTTCAGCTGCAGCC	0.532		NA											39	44					0	0	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824287	70824287	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:70824287C>T	uc001svx.2	+	3	940	c.487C>T	c.(487-489)CGC>TGC	p.R163C	uc001svy.1_5'Flank	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	calcium-activated potassium channel beta 4	163	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding				0	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTTCTGCATCGCACTCATGA	0.483		NA											15	429					0	0	0	0
PWP1	11137	broad.mit.edu	37	12	108082473	108082473	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:108082473C>T	uc001tmo.1	+	3	300	c.213C>T	c.(211-213)CGC>CGT	p.R71R	PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Silent_p.R71R	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	71					transcription, DNA-dependent	nucleus					0						CCCAGGCACGCCCAAGAGAGC	0.522		NA											39	100					0	0	0	0
SART3	9733	broad.mit.edu	37	12	108939002	108939002	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:108939002G>C	uc001tmz.1	-	4	877	c.642C>G	c.(640-642)CTC>CTG	p.L214L	SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Silent_p.L214L|SART3_uc010swy.1_Silent_p.L82L|SART3_uc010swz.1_Silent_p.L214L|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	214	HAT 3.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CAACAGACGAGAGAGCCCTTT	0.507		NA							Porokeratosis				145	120					0	0	0	0
ACACB	32	broad.mit.edu	37	12	109647006	109647006	+	Missense_Mutation	SNP	C	C	T	rs146548721		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:109647006C>T	uc001tob.2	+	21	3216	c.3097C>T	c.(3097-3099)CGG>TGG	p.R1033W	ACACB_uc001toc.2_Missense_Mutation_p.R1033W	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1033					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GATGACCCTCCGGCACCCGTC	0.662		NA											8	24					0	0	0	0
GCN1L1	10985	broad.mit.edu	37	12	120594339	120594339	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:120594339C>G	uc001txo.2	-	28	3251	c.3238G>C	c.(3238-3240)GAG>CAG	p.E1080Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1080	HEAT 4.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCCTGCTCTGCAAAGGCA	0.597		NA											3	87					0	0	0	0
PXN	5829	broad.mit.edu	37	12	120652792	120652792	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:120652792C>T	uc001txt.2	-	9	1245	c.1114G>A	c.(1114-1116)GCC>ACC	p.A372T	PXN_uc001txu.2_Missense_Mutation_p.A184T|PXN_uc001txv.2_Missense_Mutation_p.A253T|PXN_uc001txx.2_Missense_Mutation_p.A205T|PXN_uc001txy.2_Missense_Mutation_p.A338T|PXN_uc001txz.2_RNA	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	372	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCCATGGCGGTCACAACC	0.662		NA											19	12					0	0	0	0
WDR66	144406	broad.mit.edu	37	12	122359293	122359293	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:122359293C>G	uc009zxk.2	+	2	224	c.82C>G	c.(82-84)CCA>GCA	p.P28A		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	28	Glu-rich.						calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAACCTAATCCAAATTATAA	0.348		NA											3	78					0	0	0	0
LRRC43	254050	broad.mit.edu	37	12	122677376	122677376	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:122677376G>A	uc009zxm.2	+	7	1199	c.1174G>A	c.(1174-1176)GAA>AAA	p.E392K	LRRC43_uc001ubw.3_Missense_Mutation_p.E207K|LRRC43_uc009zxn.2_Missense_Mutation_p.E153K	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	392	Glu-rich.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AGACATTGTTGAAGAGGTTAC	0.517		NA											7	192					0	0	0	0
XPO4	64328	broad.mit.edu	37	13	21429888	21429888	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:21429888G>A	uc001unq.3	-	4	370	c.334C>T	c.(334-336)CGG>TGG	p.R112W	XPO4_uc010tcr.1_Missense_Mutation_p.R38W	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	112					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATCTGTTCCCGAACATACTTT	0.328		NA											9	206					0	0	0	0
SACS	26278	broad.mit.edu	37	13	23906424	23906424	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:23906424G>C	uc001uon.2	-	10	12180	c.11591C>G	c.(11590-11592)TCT>TGT	p.S3864C	SACS_uc001uoo.2_Missense_Mutation_p.S3717C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3864					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)		TTTGCCCTCAGAATTTTTAAA	0.373		NA											13	231					0	0	0	0
ENOX1	55068	broad.mit.edu	37	13	43930093	43930093	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:43930093G>A	uc001uza.3	-	8	1085	c.785C>T	c.(784-786)TCG>TTG	p.S262L	ENOX1_uc001uzb.3_Missense_Mutation_p.S262L|ENOX1_uc001uzc.3_Missense_Mutation_p.S262L|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Missense_Mutation_p.S75L	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	262					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTCGTGCTCCGAGTAGTGCAT	0.637		NA											14	207					0	0	0	0
RCBTB1	55213	broad.mit.edu	37	13	50125565	50125565	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:50125565C>T	uc001vde.1	-	8	1012	c.751G>A	c.(751-753)GAG>AAG	p.E251K		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	251					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCAAGCCCTCATCTGTTAGT	0.473		NA											4	115					0	0	0	0
FAM155A	728215	broad.mit.edu	37	13	108518355	108518355	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr13:108518355C>T	uc001vql.2	-	1	1106	c.590G>A	c.(589-591)CGG>CAG	p.R197Q		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	197						integral to membrane	binding			skin(1)	1						GGCCGCCCCCCGACTCCAGTT	0.632		NA											29	217					0	0	0	0
CPNE6	9362	broad.mit.edu	37	14	24545039	24545039	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:24545039G>C	uc001wll.2	+	10	967	c.868G>C	c.(868-870)GAG>CAG	p.E290Q	CPNE6_uc010tnv.1_Missense_Mutation_p.E345Q|CPNE6_uc001wlm.2_Missense_Mutation_p.E115Q|CPNE6_uc001wln.2_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	290					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		CCTCCAGGTGGAGAAGGTGCA	0.602		NA											3	100					0	0	0	0
C14orf149	112849	broad.mit.edu	37	14	59939793	59939793	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:59939793C>G	uc001xee.1	-	5	994	c.955G>C	c.(955-957)GAT>CAT	p.D319H		NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	proline racemase-like	319							proline racemase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	GCTTTAAAATCACCACATTTC	0.373		NA											5	162					0	0	0	0
SYT16	83851	broad.mit.edu	37	14	62547795	62547795	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:62547795G>A	uc001xfu.1	+	4	1434	c.1237G>A	c.(1237-1239)GTC>ATC	p.V413I	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	413	C2 1.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GCCCAACCCCGTCTTCAGGGA	0.582		NA											22	28					0	0	0	0
CALM1	801	broad.mit.edu	37	14	90870274	90870274	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:90870274G>A	uc001xyl.1	+	4	449	c.247G>A	c.(247-249)GAA>AAA	p.E83K	CALM1_uc010atq.1_Missense_Mutation_p.E84K|CALM1_uc010atr.1_Intron|CALM1_uc001xym.1_Missense_Mutation_p.E47K	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1 isoform 1	83	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	TACAGATAGTGAAGAAGAAAT	0.383		NA											33	21					0	0	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452268	102452268	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:102452268G>A	uc001yks.2	+	8	1870	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	569	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GCTCGCCTTCGGGATCAGCTT	0.547		NA											38	27					0	0	0	0
MTMR15	22909	broad.mit.edu	37	15	31218129	31218129	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:31218129C>T	uc001zff.2	+	10	2766	c.2475C>T	c.(2473-2475)AGC>AGT	p.S825S	MTMR15_uc001zfe.2_Silent_p.S430S	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	825					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		ACAGACGCAGCGGTTTTGACC	0.627		NA						Direct_reversal_of_damage|Editing_and_processing_nucleases					22	277					0	0	0	0
TYRO3	7301	broad.mit.edu	37	15	41864735	41864735	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:41864735C>T	uc001zof.1	+	15	2072	c.1848C>T	c.(1846-1848)CTC>CTT	p.L616L		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	616	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTTCCTGCTCGCCTCCCGGA	0.617		NA											4	83					0	0	0	0
VPS39	23339	broad.mit.edu	37	15	42457948	42457948	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:42457948C>G	uc001zpd.2	-	18	1931	c.1780G>C	c.(1780-1782)GAG>CAG	p.E594Q	VPS39_uc001zpc.2_Missense_Mutation_p.E583Q|VPS39_uc001zpb.2_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	594					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTAAAATTCTCTATTAAGAAG	0.443		NA											8	148					0	0	0	0
PLDN	26258	broad.mit.edu	37	15	45898619	45898619	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:45898619G>C	uc001zvq.2	+	5	651	c.426G>C	c.(424-426)AAG>AAC	p.K142N	PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN	pallidin	142	Potential.				post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding			skin(1)	1		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)		TGCAGCAGAAGAGGCAAAAAG	0.383		NA											7	183					0	0	0	0
RFX7	64864	broad.mit.edu	37	15	56387891	56387891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:56387891G>A	uc010bfn.2	-	9	2035	c.2035C>T	c.(2035-2037)CAG>TAG	p.Q679*	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Nonsense_Mutation_p.Q493*	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	582					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						GCTGAAAGCTGTTCCACAATT	0.448		NA											10	197					0	0	0	0
HERC1	8925	broad.mit.edu	37	15	63972741	63972741	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:63972741C>T	uc002amp.2	-	35	6608	c.6460G>A	c.(6460-6462)GGA>AGA	p.G2154R		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2154	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GGTACCTCTCCATTTTTCCCA	0.388		NA											4	74					0	0	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65847227	65847227	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:65847227C>G	uc002apc.2	+	3	281	c.133C>G	c.(133-135)CAA>GAA	p.Q45E	PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.Q45E	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain	45	CS.|Cytoplasmic (Potential).				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding				0						CTTTATAGCTCAAGGACATGG	0.433		NA											7	254					0	0	0	0
ISLR2	57611	broad.mit.edu	37	15	74425126	74425126	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:74425126T>G	uc002axd.2	+	4	800	c.31T>G	c.(31-33)TGG>GGG	p.W11G	ISLR2_uc002axe.2_Missense_Mutation_p.W11G|ISLR2_uc010bjg.2_Missense_Mutation_p.W11G|ISLR2_uc010bjf.2_Missense_Mutation_p.W11G	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	11					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GTGGTTGGTCTGGGCGCTTCT	0.607		NA											40	58					0	0	0	0
PLIN1	5346	broad.mit.edu	37	15	90210857	90210857	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr15:90210857C>T	uc010upx.1	-	7	1049	c.939G>A	c.(937-939)GAG>GAA	p.E313E	PLIN1_uc002boh.2_Silent_p.E313E	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN	perilipin 1	313	Poly-Glu.				triglyceride catabolic process	lipid particle	lipid binding			central_nervous_system(1)|skin(1)	2						tctcctcagtctccaattctt	0.388		NA											5	52					0	0	0	0
MVP	9961	broad.mit.edu	37	16	29853148	29853148	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:29853148G>A	uc002dui.2	+	9	1507	c.1423G>A	c.(1423-1425)GAG>AAG	p.E475K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.E475K|MVP_uc010vea.1_Missense_Mutation_p.E69K	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	475	MVP 9.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CGACTACCGAGAGAAGCGAGC	0.662		NA											4	73					0	0	0	0
ALDOA	226	broad.mit.edu	37	16	30080707	30080707	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:30080707G>C	uc002dvw.2	+	9	1749	c.621G>C	c.(619-621)GAG>GAC	p.E207D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.E207D|ALDOA_uc002dvy.2_Missense_Mutation_p.E207D|ALDOA_uc002dvz.2_Missense_Mutation_p.E207D|ALDOA_uc002dwa.3_Missense_Mutation_p.E207D|ALDOA_uc002dwb.1_Missense_Mutation_p.E207D|ALDOA_uc002dwc.2_Missense_Mutation_p.E207D|ALDOA_uc010veg.1_Missense_Mutation_p.E261D|ALDOA_uc002dwd.2_Missense_Mutation_p.E211D	NM_184043	NP_908932	P04075	ALDOA_HUMAN	fructose-bisphosphate aldolase A	207			E -> K (in GSD12; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity).		actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			lung(1)	1						ATGTGACCGAGAAGGTAAATG	0.622		NA									OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	160					0	0	0	0
SRCAP	10847	broad.mit.edu	37	16	30727497	30727497	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:30727497C>G	uc002dze.1	+	17	2989	c.2604C>G	c.(2602-2604)CTC>CTG	p.L868L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L725L|SRCAP_uc010bzz.1_Silent_p.L438L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	868					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AACGCTGTCTCTATGATGACT	0.512		NA											10	173					0	0	0	0
KCTD19	146212	broad.mit.edu	37	16	67329284	67329284	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:67329284G>C	uc002esu.2	-	9	1324	c.1273C>G	c.(1273-1275)CAG>GAG	p.Q425E	KCTD19_uc002est.2_Missense_Mutation_p.Q197E|KCTD19_uc010vjj.1_Missense_Mutation_p.Q168E	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	425	BTB 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACACTCTCTGAGGGTTGGAC	0.527		NA											3	93					0	0	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184786	69184786	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:69184786C>T	uc002ews.3	+	8	1077	c.981C>T	c.(979-981)CTC>CTT	p.L327L	CIRH1A_uc002ewr.2_Silent_p.L327L|CIRH1A_uc002ewt.3_Silent_p.L244L|CIRH1A_uc010cfi.2_Silent_p.L244L|CIRH1A_uc010cfj.1_Silent_p.L146L	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	327	WD 8.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATGCCGCTCTCCGAAAAATCA	0.527		NA											9	179					0	0	0	0
RFWD3	55159	broad.mit.edu	37	16	74660297	74660297	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:74660297C>T	uc002fda.2	-	12	2223	c.2125G>A	c.(2125-2127)GAG>AAG	p.E709K	RFWD3_uc010vmx.1_Missense_Mutation_p.E229K|RFWD3_uc010cgq.2_Missense_Mutation_p.E709K	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	709					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(1)	3						CCATCATTCTCTGGGCTTTGG	0.423		NA											12	387					0	0	0	0
ZFP1	162239	broad.mit.edu	37	16	75203689	75203689	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:75203689C>T	uc002fdo.2	+	4	845	c.681C>T	c.(679-681)CTC>CTT	p.L227L	ZFP1_uc002fdp.2_Silent_p.L172L|ZFP1_uc010cgt.2_Silent_p.L194L|ZFP1_uc010cgs.2_Silent_p.L172L|ZFP1_uc002fdq.2_Silent_p.L227L	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	227	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGCCAACCTCATCAAACATC	0.423		NA											25	52					0	0	0	0
TMEM231	79583	broad.mit.edu	37	16	75579249	75579249	+	Splice_Site	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:75579249C>T	uc002fem.2	-	4	645	c.582_splice	c.e4+1	p.N194_splice	CHST5_uc002fej.1_Intron|TMEM231_uc002fek.2_Splice_Site_p.N223_splice|TMEM231_uc002fel.2_Splice_Site_p.N78_splice|TMEM231_uc010vne.1_Intron|TMEM231_uc010cgx.1_Splice_Site_p.N158_splice	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN	transmembrane protein 231 isoform 2							integral to membrane					0						AGCGCTCTTACGTTGTATCGG	0.468		NA											71	148					0	0	0	0
CENPN	55839	broad.mit.edu	37	16	81045655	81045655	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:81045655G>A	uc002ffx.2	+	2	901	c.111G>A	c.(109-111)CAG>CAA	p.Q37Q	CENPN_uc002ffw.3_Silent_p.Q37Q|CENPN_uc010vnl.1_Silent_p.Q37Q|CENPN_uc010vnm.1_Silent_p.Q37Q|CENPN_uc002ffy.3_Silent_p.Q37Q	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN	centromere protein N isoform 2	37					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0						ATCAACTGCAGACTGTAAATT	0.413		NA											37	63					0	0	0	0
LRRC50	123872	broad.mit.edu	37	16	84211375	84211375	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr16:84211375C>G	uc002fhl.3	+	12	2287	c.2106C>G	c.(2104-2106)GTC>GTG	p.V702V	LRRC50_uc010vnw.1_Silent_p.V466V	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	702					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						AGACGTGTGTCGGAGTTGCCC	0.577		NA							Kartagener_syndrome				106	154					0	0	0	0
NLRP1	22861	broad.mit.edu	37	17	5462809	5462809	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:5462809C>G	uc002gci.2	-	4	1762	c.1207G>C	c.(1207-1209)GAG>CAG	p.E403Q	NLRP1_uc002gcg.1_Missense_Mutation_p.E403Q|NLRP1_uc002gck.2_Missense_Mutation_p.E403Q|NLRP1_uc002gcj.2_Missense_Mutation_p.E403Q|NLRP1_uc002gcl.2_Missense_Mutation_p.E403Q|NLRP1_uc002gch.3_Missense_Mutation_p.E403Q|NLRP1_uc010clh.2_Missense_Mutation_p.E403Q	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	403	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				AGCAGCCGCTCTGGCCTAGAC	0.597		NA											4	95					0	0	0	0
ATP1B2	482	broad.mit.edu	37	17	7557557	7557557	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:7557557C>G	uc002gif.1	+	4	1117	c.534C>G	c.(532-534)GTC>GTG	p.V178V		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	178	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		AGCCCTGTGTCTTCATCAAGA	0.567		NA											134	249					0	0	0	0
C17orf42	79736	broad.mit.edu	37	17	29226242	29226242	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:29226242G>A	uc002hfu.2	-	4	1098	c.1028C>T	c.(1027-1029)TCA>TTA	p.S343L	C17orf42_uc002hfv.2_RNA	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	343					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TTGTAATAATGAATCATAAAG	0.363		NA											9	278					0	0	0	0
KRT24	192666	broad.mit.edu	37	17	38855880	38855880	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:38855880C>T	uc002hvd.2	-	6	1234	c.1177G>A	c.(1177-1179)GAA>AAA	p.E393K		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	393	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				TAGCCAGCTTCTGTGTCAGCC	0.438		NA											14	242					0	0	0	0
CBX1	10951	broad.mit.edu	37	17	46152376	46152376	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:46152376C>G	uc002ind.3	-	4	886	c.405G>C	c.(403-405)CTG>CTC	p.L135L	CBX1_uc002ine.3_Silent_p.L135L	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	135	Chromo 2; shadow subtype.	PxVxL motif (By similarity).				nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						ACCATTTCATCAGGAACATGA	0.478		NA											11	286					0	0	0	0
MTMR4	9110	broad.mit.edu	37	17	56573327	56573327	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:56573327C>T	uc002iwj.2	-	16	2286	c.2176G>A	c.(2176-2178)GAA>AAA	p.E726K		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	726						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTAGTCTCTTCTAGGACTTTG	0.493		NA											31	610					0	0	0	0
PRR11	55771	broad.mit.edu	37	17	57270903	57270903	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:57270903G>A	uc002ixf.1	+	5	532	c.453G>A	c.(451-453)ATG>ATA	p.M151I	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	151										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CATGTCACATGAGTGGTAAAC	0.453		NA											7	138					0	0	0	0
AXIN2	8313	broad.mit.edu	37	17	63532463	63532463	+	Missense_Mutation	SNP	C	C	T	rs121908567		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:63532463C>T	uc002jfi.2	-	8	2405	c.2116G>A	c.(2116-2118)GAG>AAG	p.E706K	AXIN2_uc002jfh.2_Missense_Mutation_p.E641K	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	706					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						TTCGACACCTCAGCTAGCCTG	0.642		NA							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				3	24					0	0	0	0
QRICH2	84074	broad.mit.edu	37	17	74287166	74287166	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74287166C>T	uc002jrd.1	-	4	3324	c.3144G>A	c.(3142-3144)ATG>ATA	p.M1048I	QRICH2_uc010wsz.1_Missense_Mutation_p.M974I|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1048							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						CCAGATCCTTCATACTCTCCT	0.532		NA											8	195					0	0	0	0
JMJD6	23210	broad.mit.edu	37	17	74721741	74721741	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74721741G>A	uc002jso.2	-	2	650	c.326C>T	c.(325-327)TCA>TTA	p.S109L	JMJD6_uc002jsn.1_Missense_Mutation_p.S109L|JMJD6_uc010dgz.2_Missense_Mutation_p.S109L|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	109					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						CATCTTCACTGAGTAGCCATC	0.463		NA											11	262					0	0	0	0
JMJD6	23210	broad.mit.edu	37	17	74721784	74721784	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:74721784G>C	uc002jso.2	-	2	607	c.283C>G	c.(283-285)CGG>GGG	p.R95G	JMJD6_uc002jsn.1_Missense_Mutation_p.R95G|JMJD6_uc010dgz.2_Missense_Mutation_p.R95G|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	95	Nuclear localization signal 2.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						TTCTGGTTCCGATATTTCCTT	0.473		NA											10	241					0	0	0	0
DNAH17	8632	broad.mit.edu	37	17	76459075	76459075	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:76459075C>G	uc010dhp.1	-	2	247	c.25G>C	c.(25-27)GAG>CAG	p.E9Q	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGCGCCTCTCAGTAGCCAGG	0.498		NA											9	97					0	0	0	0
GAA	2548	broad.mit.edu	37	17	78092121	78092121	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:78092121G>C	uc002jxo.2	+	19	2793	c.2611G>C	c.(2611-2613)GGG>CGG	p.G871R	GAA_uc002jxp.2_Missense_Mutation_p.G871R|GAA_uc002jxq.2_Missense_Mutation_p.G871R	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	871					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCTGGAGCGAGGGGCCTACAC	0.677		NA											7	165					0	0	0	0
CETN1	1068	broad.mit.edu	37	18	580886	580886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:580886G>T	uc002kko.1	+	1	520	c.478G>T	c.(478-480)GAG>TAG	p.E160*		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	160	2 (Probable).|EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGTGAACGAGGAGGAGTTCCT	0.537		NA											27	117					1.04e-07	1.09e-07	1	0
DLGAP1	9229	broad.mit.edu	37	18	3879505	3879505	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:3879505G>A	uc002kmf.2	-	1	631	c.564C>T	c.(562-564)CGC>CGT	p.R188R	DLGAP1_uc010wyz.1_Silent_p.R188R|DLGAP1_uc002kmk.2_Silent_p.R188R|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	188					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.R188C(1)		ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				TGGGCTCCGCGCGCCGCTCCT	0.706		NA											110	399					0	0	0	0
KIAA0802	23255	broad.mit.edu	37	18	8825033	8825033	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:8825033G>C	uc002knr.2	+	15	3667	c.3525G>C	c.(3523-3525)CAG>CAC	p.Q1175H	KIAA0802_uc002knq.2_Missense_Mutation_p.Q1134H|KIAA0802_uc002kns.2_Missense_Mutation_p.Q515H	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1485											0						AGCACTGCCAGAAGCAGCCAC	0.647		NA											4	135					0	0	0	0
ATP8B1	5205	broad.mit.edu	37	18	55398973	55398973	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:55398973G>A	uc002lgw.2	-	1	67	c.67C>T	c.(67-69)CCC>TCC	p.P23S	uc002lgv.1_RNA	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	23	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				TCACTGTAGGGAACCACTTCG	0.463		NA							Byler_disease				13	735					0	0	0	0
MALT1	10892	broad.mit.edu	37	18	56411652	56411652	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:56411652G>C	uc002lhm.1	+	15	2094	c.1836G>C	c.(1834-1836)ATG>ATC	p.M612I	MALT1_uc002lhn.1_Missense_Mutation_p.M601I	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	612					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						CCAATGTCATGATCATCTATA	0.338		NA	T	BIRC3	MALT								6	355					0	0	0	0
CNDP2	55748	broad.mit.edu	37	18	72180810	72180810	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:72180810G>A	uc002llm.1	+	8	921	c.759G>A	c.(757-759)AAG>AAA	p.K253K	CNDP2_uc002lln.1_Silent_p.K169K|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	253						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGGTGGACAAGAGGGGGAACA	0.607		NA											22	93					0	0	0	0
SALL3	27164	broad.mit.edu	37	18	76753093	76753093	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr18:76753093G>A	uc002lmt.2	+	2	1102	c.1102G>A	c.(1102-1104)GCC>ACC	p.A368T	SALL3_uc010dra.2_5'UTR	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	368					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)		TCAGACTTCCGCCAGCGGCGT	0.716		NA											4	53					0	0	0	0
JSRP1	126306	broad.mit.edu	37	19	2254199	2254199	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:2254199C>T	uc002lvi.1	-	3	284	c.249G>A	c.(247-249)CTG>CTA	p.L83L	JSRP1_uc002lvj.1_Silent_p.L83L	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	83						sarcoplasmic reticulum membrane				pancreas(1)	1				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)		CTCCGGCTTTCAGCCTCTCCT	0.632		NA									OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	531					0	0	0	0
LONP1	9361	broad.mit.edu	37	19	5711832	5711832	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:5711832C>G	uc002mcx.2	-	4	853	c.820G>C	c.(820-822)GAG>CAG	p.E274Q	LONP1_uc002mcy.2_Missense_Mutation_p.E210Q|LONP1_uc010duh.2_Missense_Mutation_p.E15Q|LONP1_uc010dui.2_Missense_Mutation_p.E274Q|LONP1_uc002mcz.2_Missense_Mutation_p.E78Q	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	274	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						TTCTCTACCTCCACCATGAGC	0.682		NA											8	271					0	0	0	0
TRIP10	9322	broad.mit.edu	37	19	6743836	6743836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:6743836C>T	uc002mfs.2	+	7	697	c.631C>T	c.(631-633)CAG>TAG	p.Q211*	TRIP10_uc010dux.1_Nonsense_Mutation_p.Q211*|TRIP10_uc002mfr.2_Nonsense_Mutation_p.Q211*|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Nonsense_Mutation_p.Q30*	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	211	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						ACAGATGCCCCAGATATTCGA	0.498		NA											8	224					0	0	0	0
FBN3	84467	broad.mit.edu	37	19	8138080	8138080	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:8138080C>G	uc002mjf.2	-	61	7825	c.7804G>C	c.(7804-7806)GAT>CAT	p.D2602H	FBN3_uc002mje.2_Missense_Mutation_p.D398H	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2602	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						AGGGCCTGATCAAAGTCAAAG	0.662		NA											58	154					0	0	0	0
EIF3G	8666	broad.mit.edu	37	19	10227615	10227615	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:10227615C>T	uc002mnd.2	-	7	520	c.456G>A	c.(454-456)CAG>CAA	p.Q152Q		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	152						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ACACGATCTTCTGGCCCTTGA	0.647		NA											11	294					0	0	0	0
DNMT1	1786	broad.mit.edu	37	19	10265371	10265371	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:10265371C>G	uc002mng.2	-	20	1855	c.1675G>C	c.(1675-1677)GAG>CAG	p.E559Q	DNMT1_uc010xlc.1_Missense_Mutation_p.E575Q|DNMT1_uc002mnh.2_Missense_Mutation_p.E454Q|DNMT1_uc010xld.1_Missense_Mutation_p.E559Q	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	559	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)	TCCACCTGCTCCACCACAAAC	0.582		NA											4	128					0	0	0	0
ZNF563	147837	broad.mit.edu	37	19	12430300	12430300	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:12430300G>C	uc002mtp.2	-	4	777	c.539C>G	c.(538-540)TCT>TGT	p.S180C	ZNF563_uc002mtq.2_Missense_Mutation_p.S180C	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	180	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTTCTACGAGAACTGAAGGT	0.433		NA											8	359					0	0	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941729	13941729	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:13941729C>G	uc002mxh.1	+	13	3024	c.2835C>G	c.(2833-2835)TTC>TTG	p.F945L	ZSWIM4_uc010xng.1_Missense_Mutation_p.F868L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	945							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCATCGAATTCCTGGGCAAGG	0.612		NA											7	209					0	0	0	0
TECR	9524	broad.mit.edu	37	19	14675667	14675667	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:14675667C>T	uc002mza.2	+	8	686	c.559C>T	c.(559-561)CCT>TCT	p.P187S	TECR_uc002mzb.2_Missense_Mutation_p.P202S|TECR_uc010xns.1_Missense_Mutation_p.P32S|TECR_uc002mzc.2_Missense_Mutation_p.P32S|TECR_uc002mzd.2_Missense_Mutation_p.P187S|TECR_uc002mze.2_Missense_Mutation_p.P13S|TECR_uc002mzf.1_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	187					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity				0						CTACACTCCCCCTAGTAAGTG	0.617		NA											9	189					0	0	0	0
ILVBL	10994	broad.mit.edu	37	19	15233935	15233935	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:15233935G>C	uc002nam.2	-	4	578	c.457C>G	c.(457-459)CTG>GTG	p.L153V	ILVBL_uc010dzw.2_Missense_Mutation_p.L46V|ILVBL_uc010dzx.1_Missense_Mutation_p.L153V	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	153						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						ACCTGCAGCAGAGTGCTGGCA	0.627		NA											9	224					0	0	0	0
BRD4	23476	broad.mit.edu	37	19	15375245	15375245	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:15375245G>C	uc002nar.2	-	6	1404	c.1182C>G	c.(1180-1182)ATC>ATG	p.I394M	BRD4_uc002nas.2_Missense_Mutation_p.I394M|BRD4_uc002nat.3_Missense_Mutation_p.I394M|BRD4_uc002nau.3_Missense_Mutation_p.I394M	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	394	Bromo 2.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGGGGTGCTTGATGATGTCAC	0.567		NA	T	NUT|C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	351					0	0	0	0
CILP2	148113	broad.mit.edu	37	19	19656685	19656685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:19656685C>T	uc002nmv.3	+	8	3416	c.3331C>T	c.(3331-3333)CGA>TGA	p.R1111*	CILP2_uc002nmw.3_Nonsense_Mutation_p.R1117*	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1111						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						ACCGGCCGGACGACCCAGCCT	0.672		NA											5	16					0	0	0	0
ZNF493	284443	broad.mit.edu	37	19	21606544	21606544	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:21606544C>T	uc002npx.2	+	2	979	c.699C>T	c.(697-699)TCC>TCT	p.S233S	ZNF493_uc002npw.2_Silent_p.S361S|ZNF493_uc002npy.2_Silent_p.S233S	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 1	233	C2H2-type 8; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATAAGGAGTCCTCACACCTTA	0.358		NA											4	196					0	0	0	0
ZNF91	7644	broad.mit.edu	37	19	23544861	23544861	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:23544861G>A	uc002nre.2	-	4	1033	c.920C>T	c.(919-921)TCA>TTA	p.S307L	ZNF91_uc010xrj.1_Missense_Mutation_p.S275L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	307	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCAAGGGTTGAAGAATGGCT	0.403		NA											10	296					0	0	0	0
MAG	4099	broad.mit.edu	37	19	35786781	35786781	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:35786781C>G	uc002nyy.1	+	4	461	c.312C>G	c.(310-312)CTC>CTG	p.L104L	MAG_uc002nyx.1_Silent_p.L104L|MAG_uc010eds.1_Silent_p.L79L|MAG_uc002nyz.1_Silent_p.L104L	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	104	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTCCTGCTCAGCAACGTCA	0.642		NA											10	562					0	0	0	0
CAPNS1	826	broad.mit.edu	37	19	36637120	36637120	+	Silent	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:36637120C>A	uc002odj.2	+	9	784	c.627C>A	c.(625-627)CTC>CTA	p.L209L	CAPNS1_uc002odi.1_Silent_p.L209L|CAPNS1_uc002odk.2_Silent_p.L209L|CAPNS1_uc002odl.2_Silent_p.L209L	NM_001749	NP_001740	P04632	CPNS1_HUMAN	calpain, small subunit 1	209	EF-hand 4.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATGAGCATCTCTATAACATGA	0.537		NA											9	619					0.000442599	0.000451217	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39914871	39914871	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:39914871C>T	uc010xuz.1	+	19	3423	c.3098C>T	c.(3097-3099)TCA>TTA	p.S1033L	PLEKHG2_uc010xuy.1_Missense_Mutation_p.S974L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.S811L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	1033					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCACAGTTTCAGTCACCACC	0.547		NA											10	292					0	0	0	0
SNRPD2	6633	broad.mit.edu	37	19	46190931	46190931	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46190931C>G	uc002pcw.2	-	3	534	c.237G>C	c.(235-237)AAG>AAC	p.K79N	SNRPD2_uc002pcv.2_Missense_Mutation_p.K69N	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	79					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CCTTGCCACTCTTGGGTACCT	0.597		NA											5	208					0	0	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387755	46387755	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46387755C>T	uc002pds.1	-	1	1622	c.1278G>A	c.(1276-1278)CTG>CTA	p.L426L		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCACATTCTTCAGGGCGGCAA	0.716		NA											4	114					0	0	0	0
IGFL3	388555	broad.mit.edu	37	19	46627533	46627533	+	Missense_Mutation	SNP	C	C	T	rs148630126		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:46627533C>T	uc002pea.1	-	2	96	c.71G>A	c.(70-72)GGA>GAA	p.G24E		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3 precursor	24						extracellular region	protein binding				0		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACCTGTAGTTCCTTTTGAACA	0.453		NA											8	125					0	0	0	0
SLC8A2	6543	broad.mit.edu	37	19	47951487	47951487	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:47951487C>G	uc002pgx.2	-	4	1620	c.1342G>C	c.(1342-1344)GAG>CAG	p.E448Q	SLC8A2_uc010xyq.1_Missense_Mutation_p.E204Q|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E448Q	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	448	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGCGTGCCCTCGCTGCGGCGG	0.637		NA											5	104					0	0	0	0
CRX	1406	broad.mit.edu	37	19	48342644	48342644	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:48342644C>G	uc002phq.3	+	4	524	c.320C>G	c.(319-321)CCC>CGC	p.P107R		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	107					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		cagcagcagcCCCCAGGGGGC	0.517		NA											11	268					0	0	0	0
LMTK3	114783	broad.mit.edu	37	19	49001313	49001313	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49001313C>T	uc002pjk.2	-	12	3100	c.3100G>A	c.(3100-3102)GAG>AAG	p.E1034K		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CCCCCATTCTCTGACACCTTG	0.647		NA											10	365					0	0	0	0
LMTK3	114783	broad.mit.edu	37	19	49001325	49001325	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49001325C>T	uc002pjk.2	-	12	3088	c.3088G>A	c.(3088-3090)GAC>AAC	p.D1030N		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACACCTTGTCCTCGCTCTTT	0.642		NA											9	428					0	0	0	0
PPFIA3	8541	broad.mit.edu	37	19	49636556	49636556	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49636556G>C	uc002pmr.2	+	9	1421	c.1089G>C	c.(1087-1089)CAG>CAC	p.Q363H	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.Q287H|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.Q231H	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	363	Potential.					cell surface|cytoplasm	protein binding			lung(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;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCTGCAGCAGACGCTGCAGA	0.682		NA											6	118					0	0	0	0
HRC	3270	broad.mit.edu	37	19	49658238	49658238	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:49658238G>C	uc002pmv.2	-	1	444	c.257C>G	c.(256-258)CCA>CGA	p.P86R	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	86					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)		TTCACGGTCTGGGTGGCTCCA	0.537		NA											13	344					0	0	0	0
KLK9	284366	broad.mit.edu	37	19	51506440	51506440	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:51506440C>T	uc002pux.1	-	5	767	c.680G>A	c.(679-681)AGA>AAA	p.R227K	KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.R198K|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'UTR|KLK9_uc002puv.1_RNA	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9 precursor	227	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCGCCGGGGTCTGGAGCAGGG	0.642		NA											96	219					0	0	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955701	51955701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:51955701G>A	uc002pwt.2	-	7	1499	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	SIGLEC8_uc010yda.1_Nonsense_Mutation_p.R369*|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.R385*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	478	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAGTTTCTCGCTTGTGGATC	0.483		NA											73	255					0	0	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033951	52033951	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:52033951G>C	uc002pwy.2	-	3	852	c.690C>G	c.(688-690)ATC>ATG	p.I230M	SIGLEC6_uc002pwz.2_Missense_Mutation_p.I230M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.I230M|SIGLEC6_uc010ydb.1_Missense_Mutation_p.I183M|SIGLEC6_uc010ydc.1_Missense_Mutation_p.I219M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.I208M|SIGLEC6_uc010epb.1_Missense_Mutation_p.I183M|SIGLEC6_uc010epa.1_Missense_Mutation_p.I219M	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	230	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CATTGAGCTGGATGGTTCTCT	0.637		NA											9	272					0	0	0	0
ZNF480	147657	broad.mit.edu	37	19	52825764	52825764	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr19:52825764C>G	uc010ydl.1	+	5	1331	c.1261C>G	c.(1261-1263)CAT>GAT	p.H421D	ZNF480_uc002pyv.2_Missense_Mutation_p.H344D|ZNF480_uc010ydm.1_Missense_Mutation_p.H378D|ZNF480_uc010epn.2_Missense_Mutation_p.H252D|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	421	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCGAAGAATTCATACTGGAGA	0.373		NA											9	236					0	0	0	0
TPO	7173	broad.mit.edu	37	2	1497617	1497617	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:1497617G>A	uc002qww.2	+	11	1903	c.1812G>A	c.(1810-1812)GAG>GAA	p.E604E	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.E547E|TPO_uc002qwr.2_Silent_p.E604E|TPO_uc002qwx.2_Silent_p.E547E|TPO_uc010yio.1_Silent_p.E431E|TPO_uc010yip.1_Silent_p.E604E|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	604	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCGCCTGGAGACCCCCGCTG	0.587		NA											28	35					0	0	0	0
ODC1	4953	broad.mit.edu	37	2	10582007	10582007	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:10582007C>T	uc010exg.1	-	10	1396	c.962G>A	c.(961-963)GGC>GAC	p.G321D	ODC1_uc002ran.1_Missense_Mutation_p.G7D|ODC1_uc002rao.1_Missense_Mutation_p.G321D|ODC1_uc010yjd.1_Missense_Mutation_p.G191D	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TCCATAGACGCCATCATTCAC	0.373		NA											92	149					0	0	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20240727	20240727	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:20240727G>A	uc002rdm.2	-	2	665	c.157C>T	c.(157-159)CAT>TAT	p.H53Y	LAPTM4A_uc002rdn.2_Missense_Mutation_p.H11Y|LAPTM4A_uc010yjx.1_Missense_Mutation_p.H53Y	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	53					transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTTGGATGAGTCACTTCC	0.368		NA											9	157					0	0	0	0
ATAD2B	54454	broad.mit.edu	37	2	24033258	24033258	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:24033258G>C	uc002rek.3	-	18	2676	c.2382C>G	c.(2380-2382)TTC>TTG	p.F794L	ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.F39L|ATAD2B_uc002rej.3_5'UTR	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	794							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGCACAGAGAATCTTTCTA	0.478		NA											5	102					0	0	0	0
NCOA1	8648	broad.mit.edu	37	2	24928094	24928094	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:24928094C>T	uc002rfk.2	+	10	1347	c.1089C>T	c.(1087-1089)ATC>ATT	p.I363I	NCOA1_uc010eye.2_Silent_p.I363I|NCOA1_uc002rfi.2_Silent_p.I212I|NCOA1_uc002rfj.2_Silent_p.I363I|NCOA1_uc002rfl.2_Silent_p.I363I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	363	Interaction with STAT3.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATTCATATCATCGACAGGT	0.378		NA	T	PAX3	alveolar rhadomyosarcoma								5	129					0	0	0	0
PLB1	151056	broad.mit.edu	37	2	28789673	28789673	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:28789673G>A	uc002rmb.1	+	20	1291	c.1291G>A	c.(1291-1293)GAT>AAT	p.D431N	PLB1_uc010ezj.1_Missense_Mutation_p.D442N|PLB1_uc002rmc.2_Missense_Mutation_p.D119N|PLB1_uc002rmd.1_5'UTR	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	431	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CGTCGGCGGAGATGAGAACAT	0.622		NA									OREG0014523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	109					0	0	0	0
PRKD3	23683	broad.mit.edu	37	2	37520348	37520348	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:37520348C>T	uc002rqd.2	-	2	910	c.355G>A	c.(355-357)GAA>AAA	p.E119K	PRKD3_uc002rqf.1_Missense_Mutation_p.E119K	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	119					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				AAAATGTTTTCTGAGTTCATG	0.398		NA											79	106					0	0	0	0
SOS1	6654	broad.mit.edu	37	2	39234270	39234270	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:39234270G>C	uc002rrk.3	-	16	2616	c.2575C>G	c.(2575-2577)CTA>GTA	p.L859V	SOS1_uc002rrj.3_Missense_Mutation_p.L473V	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	859	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				AAGACTTGTAGAATCTCAATA	0.348		NA							Noonan_syndrome				6	269					0	0	0	0
C2orf61	285051	broad.mit.edu	37	2	47378441	47378441	+	Missense_Mutation	SNP	C	C	G	rs147631903		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:47378441C>G	uc002rvs.2	-	3	482	c.355G>C	c.(355-357)GAC>CAC	p.D119H	C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Missense_Mutation_p.D119H	NM_173649	NP_775920	Q8N801	CB061_HUMAN	hypothetical protein LOC285051 isoform 2	119								p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGTGGTTTGTCTTTGAATGAG	0.473		NA											10	173					0	0	0	0
CCDC85A	114800	broad.mit.edu	37	2	56599513	56599513	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:56599513A>G	uc002rzn.2	+	4	1854	c.1352A>G	c.(1351-1353)AAC>AGC	p.N451S		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	451										breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCAACTAGAAACAGCTCAAAT	0.502		NA											7	10					0	0	0	0
EHBP1	23301	broad.mit.edu	37	2	63053232	63053232	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:63053232C>G	uc002sby.2	+	6	805	c.323C>G	c.(322-324)TCT>TGT	p.S108C	EHBP1_uc010fcp.2_Missense_Mutation_p.S108C|EHBP1_uc010fcq.1_Missense_Mutation_p.S108C|EHBP1_uc002sbx.2_Missense_Mutation_p.S108C|EHBP1_uc002sbz.2_Missense_Mutation_p.S108C|EHBP1_uc002scb.2_Missense_Mutation_p.S108C	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	108						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAATCCCCTTCTGGTCGAAGG	0.318		NA							Hereditary_Prostate_Cancer				3	107					0	0	0	0
NAT8	9027	broad.mit.edu	37	2	73868552	73868552	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:73868552G>A	uc002sji.1	-	2	371	c.204C>T	c.(202-204)ATC>ATT	p.I68I		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	68	Helical; (Potential).|N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						GGAAGAGGCTGATGCTGAACA	0.537		NA											10	224					0	0	0	0
MRPS9	64965	broad.mit.edu	37	2	105665724	105665724	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:105665724G>A	uc002tcn.3	+	2	299	c.231G>A	c.(229-231)CAG>CAA	p.Q77Q		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9 precursor	77					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						TTAAAAAGCAGATTGAAGAGT	0.348		NA											7	99					0	0	0	0
SLC20A1	6574	broad.mit.edu	37	2	113410356	113410356	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:113410356C>T	uc002tib.2	+	5	1085	c.639C>T	c.(637-639)ATC>ATT	p.I213I		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	213	Helical; (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						TCTTTTCCATCATGTATACTG	0.353		NA											7	273					0	0	0	0
PROC	5624	broad.mit.edu	37	2	128186312	128186312	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:128186312G>A	uc002tok.2	+	9	1249	c.1176G>A	c.(1174-1176)GGG>GGA	p.G392G	PROC_uc002tol.2_Silent_p.G413G|PROC_uc010yzi.1_Silent_p.G448G|PROC_uc010yzj.1_Silent_p.G287G|PROC_uc010yzk.1_Silent_p.G447G|PROC_uc002tom.2_Silent_p.G426G	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	392	Peptidase S1.		G -> R (in ADPROCD; Osaka-9).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GCATCCTCGGGGACCGGCAGG	0.632		NA											8	205					0	0	0	0
POTEF	728378	broad.mit.edu	37	2	130832366	130832366	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:130832366G>A	uc010fmh.2	-	17	3079	c.2679C>T	c.(2677-2679)CTC>CTT	p.L893L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	893	Actin-like.					cell cortex	ATP binding			skin(3)|ovary(2)	5						CATGCTCGGTGAGGATCTTCA	0.587		NA											9	98					0	0	0	0
ACMSD	130013	broad.mit.edu	37	2	135659429	135659429	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:135659429G>C	uc002ttz.2	+	10	1077	c.1010G>C	c.(1009-1011)TGA>TCA	p.*337S	ACMSD_uc002tua.2_Nonstop_Mutation_p.*279S|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	337					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		CAATTTGAATGACTGAATTTA	0.299		NA											3	75					0	0	0	0
UBXN4	23190	broad.mit.edu	37	2	136537915	136537915	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:136537915G>A	uc002tur.2	+	12	1659	c.1348G>A	c.(1348-1350)GAA>AAA	p.E450K	UBXN4_uc002tus.2_Missense_Mutation_p.E216K|UBXN4_uc002tut.2_Missense_Mutation_p.E86K	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	450	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			skin(2)	2						AACATCGTCAGAACCCCCAAA	0.388		NA											13	256					0	0	0	0
ITGB6	3694	broad.mit.edu	37	2	161052754	161052754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:161052754G>A	uc002ubh.2	-	3	335	c.319C>T	c.(319-321)CAA>TAA	p.Q107*	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Nonsense_Mutation_p.Q107*|ITGB6_uc010zcq.1_Nonsense_Mutation_p.Q65*|ITGB6_uc010fov.1_Nonsense_Mutation_p.Q107*	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	107	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						ATCAAGCTTTGAGGCGCAATC	0.383		NA											13	244					0	0	0	0
HOXD10	3236	broad.mit.edu	37	2	176983913	176983913	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:176983913G>C	uc002ukj.2	+	2	1047	c.977G>C	c.(976-978)CGA>CCA	p.R326P		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	326						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AAGATGAGCCGAGAGAACCGG	0.453		NA											5	101					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179569097	179569097	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:179569097C>G	uc010zfg.1	-	103	26492	c.26268G>C	c.(26266-26268)CTG>CTC	p.L8756L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L5417L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9683							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTTCTTTCAGAGTCACAT	0.428		NA											16	338					0	0	0	0
DNAH7	56171	broad.mit.edu	37	2	196801458	196801458	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:196801458G>T	uc002utj.3	-	20	3238	c.3137C>A	c.(3136-3138)TCT>TAT	p.S1046Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1046	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AAGTTCATTAGATTTTTTCAG	0.299		NA											4	103					0.00909568	0.00919605	1	0
SGOL2	151246	broad.mit.edu	37	2	201437872	201437872	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:201437872G>C	uc002uvw.2	+	7	2916	c.2803G>C	c.(2803-2805)GAA>CAA	p.E935Q	SGOL2_uc010zhd.1_Missense_Mutation_p.E935Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E935Q	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	935					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						ACATGTCCAAGAAAGCTATAC	0.274		NA											9	198					0	0	0	0
ALS2	57679	broad.mit.edu	37	2	202572650	202572650	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:202572650C>G	uc002uyo.2	-	28	4701	c.4345G>C	c.(4345-4347)GAA>CAA	p.E1449Q	ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1449					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						GACTTCCTTTCGGTTGGCAGA	0.438		NA											3	103					0	0	0	0
RPL37A	6168	broad.mit.edu	37	2	217364725	217364725	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:217364725G>C	uc002vgf.2	+	3	264	c.186G>C	c.(184-186)AAG>AAC	p.K62N	RPL37A_uc002vgg.2_Missense_Mutation_p.K62N	NM_000998	NP_000989	P61513	RL37A_HUMAN	ribosomal protein L37a	62					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			ovary(1)	1		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCATGAAGACAGTGGCTG	0.473		NA											4	132					0	0	0	0
PLCD4	84812	broad.mit.edu	37	2	219496958	219496958	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:219496958G>C	uc002vij.1	+	10	1567	c.1372G>C	c.(1372-1374)GAA>CAA	p.E458Q	PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	458	Glu-rich.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAAGAGTCAGAATTGGCGCT	0.502		NA											4	17					0	0	0	0
COL4A4	1286	broad.mit.edu	37	2	227973311	227973311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:227973311G>A	uc010zlt.1	-	12	1375	c.721C>T	c.(721-723)CAA>TAA	p.Q241*		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	241	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTCCCATTTGCCCCTTTACT	0.418		NA											7	231					0	0	0	0
NMUR1	10316	broad.mit.edu	37	2	232393432	232393432	+	Silent	SNP	G	G	A	rs139992213	by1000genomes	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr2:232393432G>A	uc002vry.3	-	2	410	c.300C>T	c.(298-300)TTC>TTT	p.F100F		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	100	Helical; Name=2; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCAGGCTGAAGAGGTAGT	0.627		NA											10	156					0	0	0	0
FAM113A	64773	broad.mit.edu	37	20	2820550	2820550	+	Silent	SNP	G	G	A	rs143418384		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:2820550G>A	uc002wgz.1	-	2	506	c.9C>T	c.(7-9)TTC>TTT	p.F3F	FAM113A_uc002whb.1_5'UTR|FAM113A_uc002wha.1_5'UTR|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Silent_p.F3F|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	3							hydrolase activity|protein binding			ovary(2)	2						TCGACAGACAGAAGACCATGC	0.647		NA											15	32					0	0	0	0
UBOX5	22888	broad.mit.edu	37	20	3102039	3102039	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:3102039A>G	uc002whw.2	-	3	1416	c.1246T>C	c.(1246-1248)TGC>CGC	p.C416R	uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.C416R|UBOX5_uc002why.1_Missense_Mutation_p.C416R	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	416						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						CCTGTCGAGCAGTCCATATGT	0.532		NA											49	78					0	0	0	0
CRNKL1	51340	broad.mit.edu	37	20	20023027	20023027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:20023027C>T	uc002wrs.2	-	9	1621	c.1589G>A	c.(1588-1590)TGG>TAG	p.W530*		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	530	HAT 9.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						GTAGCGCTTCCAGTGCCTCTT	0.448		NA											6	225					0	0	0	0
CRNKL1	51340	broad.mit.edu	37	20	20026038	20026038	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:20026038C>T	uc002wrs.2	-	7	1230	c.1198G>A	c.(1198-1200)GAG>AAG	p.E400K		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	400	HAT 6.				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3						ACAGCTCTCTCATACACTTTC	0.418		NA											8	289					0	0	0	0
MYL9	10398	broad.mit.edu	37	20	35173423	35173423	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:35173423G>C	uc002xfl.1	+	2	230	c.136G>C	c.(136-138)GAT>CAT	p.D46H	uc002xfk.3_Intron|MYL9_uc002xfm.1_Missense_Mutation_p.D46H	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	46	|EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGAACCGTGATGGCTTCAT	0.572		NA											5	158					0	0	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905248	45905248	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:45905248C>T	uc002xta.1	-	11	1484	c.1230G>A	c.(1228-1230)CTG>CTA	p.L410L	ZMYND8_uc010ghq.1_Silent_p.L87L|ZMYND8_uc010ghr.1_Silent_p.L385L|ZMYND8_uc002xst.1_Silent_p.L385L|ZMYND8_uc002xsu.1_Silent_p.L410L|ZMYND8_uc002xsv.1_Silent_p.L385L|ZMYND8_uc002xsw.1_Silent_p.L162L|ZMYND8_uc002xsx.1_Silent_p.L162L|ZMYND8_uc002xsy.1_Silent_p.L385L|ZMYND8_uc002xsz.1_Silent_p.L347L|ZMYND8_uc010zxy.1_Silent_p.L437L|ZMYND8_uc002xtb.1_Silent_p.L430L|ZMYND8_uc002xss.2_Silent_p.L410L|ZMYND8_uc010zxz.1_Silent_p.L405L|ZMYND8_uc002xtc.1_Silent_p.L430L|ZMYND8_uc002xtd.1_Silent_p.L405L|ZMYND8_uc002xte.1_Silent_p.L410L|ZMYND8_uc010zya.1_Silent_p.L410L|ZMYND8_uc002xtf.1_Silent_p.L430L|ZMYND8_uc002xtg.2_Silent_p.L404L|ZMYND8_uc010ghs.1_Silent_p.L404L	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	410							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTTGCTCATCAGGATCTTGG	0.592		NA											12	185					0	0	0	0
CTCFL	140690	broad.mit.edu	37	20	56099082	56099082	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr20:56099082G>A	uc010gix.1	-	1	842	c.180C>T	c.(178-180)GTC>GTT	p.V60V	CTCFL_uc010giw.1_Silent_p.V60V|CTCFL_uc002xym.2_Silent_p.V60V|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Silent_p.V60V|CTCFL_uc010gjb.1_Silent_p.V60V|CTCFL_uc010gjc.1_Silent_p.V60V|CTCFL_uc010gjd.1_Silent_p.V60V|CTCFL_uc010gje.2_Silent_p.V60V|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Silent_p.V60V|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Silent_p.V60V|CTCFL_uc010gjk.1_Silent_p.V60V|CTCFL_uc010gjl.1_Silent_p.V60V	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	60					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)			CTTCCTCCAGGACGCTGTCCT	0.587		NA											134	284					0	0	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635244	34635244	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr21:34635244G>T	uc002yrd.2	+	9	1315	c.987G>T	c.(985-987)GCG>GCT	p.A329A	IFNAR2_uc002yre.2_Silent_p.A329A|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	329	Cytoplasmic (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGAGGCAGCGCCCAGGACAA	0.498		NA											7	183					5.18e-06	5.36e-06	1	0
TFIP11	24144	broad.mit.edu	37	22	26894918	26894918	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:26894918G>A	uc003acr.2	-	9	1727	c.1353C>T	c.(1351-1353)ATC>ATT	p.I451I	TFIP11_uc003acs.2_Silent_p.I451I|TFIP11_uc003act.2_Silent_p.I451I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	451					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						ACTTAGAGATGATCTCGGTGC	0.552		NA											19	333					0	0	0	0
TFIP11	24144	broad.mit.edu	37	22	26895394	26895394	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:26895394G>A	uc003acr.2	-	8	1379	c.1005C>T	c.(1003-1005)ATC>ATT	p.I335I	TFIP11_uc003acs.2_Silent_p.I335I|TFIP11_uc003act.2_Silent_p.I335I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	335					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						CATTCTGGATGATCTCCTGCT	0.622		NA											5	216					0	0	0	0
BPIL2	254240	broad.mit.edu	37	22	32828417	32828417	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:32828417G>C	uc003amn.2	-	10	1092	c.1092C>G	c.(1090-1092)ATC>ATG	p.I364M	BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.I88M	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	364						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)|skin(1)	2						TGAGCATCATGATGGAGGCAG	0.517		NA											6	161					0	0	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962692	37962692	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:37962692C>G	uc003asz.3	+	2	739	c.336C>G	c.(334-336)ATC>ATG	p.I112M		NM_152243	NP_689449	Q00587	BORG5_HUMAN	CDC42 effector protein 1	112					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding				0	Melanoma(58;0.0574)					CACCGGCCATCTCCCCCATCA	0.682		NA											5	189					0	0	0	0
LGALS1	3956	broad.mit.edu	37	22	38073070	38073070	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:38073070G>C	uc003atn.2	+	2	184	c.87G>C	c.(85-87)AAG>AAC	p.K29N		NM_002305	NP_002296	P09382	LEG1_HUMAN	galectin-1	29	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity				0	Melanoma(58;0.0574)					CTGACGCTAAGAGGTGAGAAG	0.667		NA											4	63					0	0	0	0
EIF3L	51386	broad.mit.edu	37	22	38254699	38254699	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:38254699G>C	uc003auf.2	+	5	474	c.387G>C	c.(385-387)CTG>CTC	p.L129L	EIF3L_uc003aue.1_Silent_p.L129L|EIF3L_uc011ann.1_Silent_p.L129L|EIF3L_uc003aug.2_Silent_p.L21L	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3	129						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1						CTGTCTTCCTGATTTTATACA	0.378		NA											16	556					0	0	0	0
TAB1	10454	broad.mit.edu	37	22	39814772	39814772	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:39814772G>C	uc003axt.2	+	6	635	c.586G>C	c.(586-588)GAT>CAT	p.D196H	TAB1_uc003axr.2_Missense_Mutation_p.D272H|TAB1_uc011aok.1_Missense_Mutation_p.D30H|TAB1_uc003axu.1_Missense_Mutation_p.D196H	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	196	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						ATCGACAGTGGATGGGTTGCA	0.527		NA											40	94					0	0	0	0
MAPK12	6300	broad.mit.edu	37	22	50695547	50695547	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:50695547G>C	uc003bkm.1	-	4	541	c.390C>G	c.(388-390)ATC>ATG	p.I130M	MAPK12_uc003bkn.2_Translation_Start_Site|MAPK12_uc003bko.2_Missense_Mutation_p.I50M|MAPK12_uc003bkl.1_Missense_Mutation_p.I130M|MAPK12_uc003bkp.2_5'Flank|MAPK12_uc003bkq.2_Intron	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	130	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGAACTGGATCCGGTCCT	0.667		NA											7	98					0	0	0	0
SBF1	6305	broad.mit.edu	37	22	50898407	50898407	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr22:50898407G>C	uc003blh.2	-	26	3660	c.3465C>G	c.(3463-3465)GTC>GTG	p.V1155V	SBF1_uc011arx.1_Silent_p.V819V	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1155	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACATGCGGTTGACCGGAGAAA	0.677		NA											5	155					0	0	0	0
EDEM1	9695	broad.mit.edu	37	3	5243458	5243458	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:5243458C>T	uc003bqi.2	+	4	839	c.707C>T	c.(706-708)TCT>TTT	p.S236F	EDEM1_uc011asz.1_Missense_Mutation_p.S14F|EDEM1_uc003bqh.2_Missense_Mutation_p.S236F	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	236	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGCCTCCTTTCTGCTCACAGA	0.408		NA											85	144					0	0	0	0
RAF1	5894	broad.mit.edu	37	3	12660106	12660106	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:12660106G>C	uc003bxf.3	-	2	530	c.115C>G	c.(115-117)CAG>GAG	p.Q39E	RAF1_uc011auu.1_Translation_Start_Site	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	39					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	GCCCGGCGCTGATAGCCAAAC	0.473		NA	T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				13	201					0	0	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033799	37033799	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:37033799G>A	uc003cgk.2	-	1	997	c.770C>T	c.(769-771)TCA>TTA	p.S257L	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	257						endoplasmic reticulum					0						GACGAGTCCTGAGTTCTCACC	0.473		NA											13	302					0	0	0	0
DLEC1	9940	broad.mit.edu	37	3	38101288	38101288	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:38101288G>A	uc003cho.1	+	3	639	c.618G>A	c.(616-618)TTG>TTA	p.L206L	DLEC1_uc003chp.1_Silent_p.L206L|DLEC1_uc010hgv.1_Silent_p.L206L|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	206					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AACATCATTTGATCTCCCCAG	0.478		NA											21	444					0	0	0	0
ZNF197	10168	broad.mit.edu	37	3	44684611	44684611	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:44684611G>C	uc003cnm.2	+	6	2195	c.1989G>C	c.(1987-1989)AAG>AAC	p.K663N	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	663	C2H2-type 11.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTCTGAAGAAGAGCCTCATTT	0.403		NA											3	95					0	0	0	0
MAP4	4134	broad.mit.edu	37	3	47894525	47894525	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:47894525G>C	uc003csb.2	-	19	3982	c.3456C>G	c.(3454-3456)ATC>ATG	p.I1152M	MAP4_uc003csc.3_Intron|MAP4_uc003crw.2_Missense_Mutation_p.I231M|MAP4_uc003crx.2_Missense_Mutation_p.I328M|MAP4_uc011bbe.1_Intron|MAP4_uc003cry.2_Missense_Mutation_p.I887M|MAP4_uc003csa.3_Intron|MAP4_uc003crz.3_RNA	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	1152					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GTCATCATTAGATGCCTGGAA	0.502		NA											6	148					0	0	0	0
COL7A1	1294	broad.mit.edu	37	3	48624640	48624640	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:48624640G>A	uc003ctz.2	-	23	3123	c.3122C>T	c.(3121-3123)TCT>TTT	p.S1041F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1041	Nonhelical region (NC1).|Fibronectin type-III 9.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTGTGACAGATGCCTCAGG	0.597		NA											3	69					0	0	0	0
COL7A1	1294	broad.mit.edu	37	3	48626388	48626388	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:48626388G>A	uc003ctz.2	-	18	2356	c.2355C>T	c.(2353-2355)CTC>CTT	p.L785L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	785	Nonhelical region (NC1).|Fibronectin type-III 7.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAAGCATTGAGGATCTGCA	0.607		NA											8	167					0	0	0	0
USP19	10869	broad.mit.edu	37	3	49155175	49155175	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:49155175G>C	uc003cwd.1	-	4	548	c.387C>G	c.(385-387)GTC>GTG	p.V129V	USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Silent_p.V129V|USP19_uc011bcg.1_Silent_p.V129V|USP19_uc003cwb.2_Silent_p.V114V|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Silent_p.V129V|USP19_uc011bci.1_Silent_p.V114V	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	129	Cytoplasmic (Potential).|CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACGAAGCTTGACAATCACCT	0.433		NA											6	117					0	0	0	0
PCBP4	57060	broad.mit.edu	37	3	51993286	51993286	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:51993286G>C	uc003dcd.1	-	9	1055	c.659C>G	c.(658-660)TCA>TGA	p.S220*	PCBP4_uc003dcb.1_Nonsense_Mutation_p.S186*|PCBP4_uc003dcc.1_Nonsense_Mutation_p.S241*|PCBP4_uc003dce.1_Silent_p.L221L|PCBP4_uc003dcf.1_Nonsense_Mutation_p.S220*|PCBP4_uc003dcg.1_Nonsense_Mutation_p.S186*|PCBP4_uc003dch.1_Nonsense_Mutation_p.S220*|PCBP4_uc003dci.1_Nonsense_Mutation_p.S60*|PCBP4_uc003dcj.1_Nonsense_Mutation_p.S220*|PCBP4_uc003dck.1_Nonsense_Mutation_p.S177*|PCBP4_uc003dcl.1_Nonsense_Mutation_p.S220*	NM_033010	NP_127503	P57723	PCBP4_HUMAN	poly(rC) binding protein 4 isoform c	220						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCATGGCTTGAGAGCTGCTG	0.632		NA											24	49					0	0	0	0
PHF7	51533	broad.mit.edu	37	3	52446916	52446916	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:52446916G>C	uc003ddy.2	+	2	827	c.21G>C	c.(19-21)AAG>AAC	p.K7N	BAP1_uc003ddx.2_5'Flank|PHF7_uc003ddz.2_Missense_Mutation_p.K7N	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	PHD finger protein 7 isoform 1	7						nucleus	zinc ion binding			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TAAAAGAAAAGAAGGAATGCC	0.413		NA											3	31					0	0	0	0
C3orf63	23272	broad.mit.edu	37	3	56667379	56667379	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:56667379G>C	uc003did.3	-	17	3358	c.3257C>G	c.(3256-3258)TCT>TGT	p.S1086C	C3orf63_uc003dib.3_Missense_Mutation_p.S205C|C3orf63_uc003dic.3_Missense_Mutation_p.S710C|C3orf63_uc003die.3_Missense_Mutation_p.S1147C	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1147										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CTGCTCATCAGAGTTGGTATC	0.423		NA											20	309					0	0	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526833	64526833	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:64526833G>A	uc003dmg.2	-	36	5491	c.5459C>T	c.(5458-5460)ACG>ATG	p.T1820M	ADAMTS9_uc011bfo.1_Missense_Mutation_p.T1792M|ADAMTS9_uc011bfp.1_Missense_Mutation_p.T731M	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1820	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCAGCGGCCGTGTAATCCTT	0.468		NA											57	101					0	0	0	0
OR5H6	79295	broad.mit.edu	37	3	97983460	97983460	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:97983460C>G	uc003dsi.1	+	1	332	c.332C>G	c.(331-333)TCT>TGT	p.S111C		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	111	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3						ATATCTCTCTCTGAATGCATG	0.403		NA											57	150					0	0	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724691	113724691	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:113724691G>C	uc003eax.2	-	10	1679	c.1532C>G	c.(1531-1533)TCT>TGT	p.S511C	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.S489C|KIAA1407_uc011bip.1_Missense_Mutation_p.S498C	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	511										ovary(2)	2						TGCACTCAGAGAGACATTCTG	0.537		NA											8	458					0	0	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798772	113798772	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:113798772C>T	uc003eay.2	+	8	996	c.766C>T	c.(766-768)CGG>TGG	p.R256W	QTRTD1_uc003eaz.2_Missense_Mutation_p.R268W|QTRTD1_uc011biq.1_Missense_Mutation_p.R133W|QTRTD1_uc011bir.1_Missense_Mutation_p.R150W	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	256					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						TGGTGTTAGTCGGCCAGATGA	0.428		NA											9	433					0	0	0	0
TOPBP1	11073	broad.mit.edu	37	3	133347312	133347312	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:133347312C>G	uc003eps.2	-	16	2830	c.2698G>C	c.(2698-2700)GAA>CAA	p.E900Q	TOPBP1_uc003ept.1_5'UTR	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	900	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						TTTGGGGCTTCTTCCTGTCCA	0.373		NA						Other_conserved_DNA_damage_response_genes					4	42					0	0	0	0
MSL2	55167	broad.mit.edu	37	3	135871283	135871283	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:135871283G>A	uc003eqx.1	-	2	1173	c.440C>T	c.(439-441)TCA>TTA	p.S147L	MSL2_uc011bmb.1_Missense_Mutation_p.S73L	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	147					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						GGATGAATCTGAGGGTTTTTC	0.403		NA											6	167					0	0	0	0
XRN1	54464	broad.mit.edu	37	3	142074246	142074246	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:142074246C>G	uc003eus.2	-	32	3832	c.3765G>C	c.(3763-3765)GAG>GAC	p.E1255D	XRN1_uc010huu.2_Missense_Mutation_p.E721D|XRN1_uc003eut.2_Missense_Mutation_p.E1255D|XRN1_uc003euu.2_Missense_Mutation_p.E1255D	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1255					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TACTAACCTTCTCTTGTATAG	0.303		NA											4	199					0	0	0	0
PLOD2	5352	broad.mit.edu	37	3	145803008	145803008	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:145803008C>T	uc003evs.1	-	11	1686	c.1180G>A	c.(1180-1182)GAT>AAT	p.D394N	PLOD2_uc003evq.1_Missense_Mutation_p.D54N|PLOD2_uc011bnm.1_Missense_Mutation_p.D339N|PLOD2_uc003evr.1_Missense_Mutation_p.D394N	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	394					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	AAAACAACATCTGCATCCACA	0.284		NA											28	95					0	0	0	0
CPA3	1359	broad.mit.edu	37	3	148583121	148583121	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:148583121G>C	uc003ewm.2	+	1	79	c.27G>C	c.(25-27)TTG>TTC	p.L9F		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	9					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGTGGGTTTGATTGCTACCA	0.463		NA											7	160					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			31	79					0	0	0	0
KCNMB3	27094	broad.mit.edu	37	3	178984446	178984446	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:178984446C>T	uc003fjp.1	-	1	393	c.53G>A	c.(52-54)CGC>CAC	p.R18H	KCNMB3_uc011bqc.1_Missense_Mutation_p.R18H	NM_171828	NP_741979	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3	Error:Variant_position_missing_in_Q9NPA1_after_alignment					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			CCTCCCCTGGCGCCTCCGGCT	0.587		NA											20	99					0	0	0	0
FXR1	8087	broad.mit.edu	37	3	180651167	180651167	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:180651167G>C	uc003fkq.2	+	2	119	c.97G>C	c.(97-99)GAA>CAA	p.E33Q	FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Missense_Mutation_p.E33Q|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Missense_Mutation_p.E20Q	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	33					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGTTGTTTTTGAAAATAAGTA	0.338		NA											25	77					0	0	0	0
EPHB3	2049	broad.mit.edu	37	3	184294725	184294725	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:184294725G>A	uc003foz.2	+	5	1545	c.1108G>A	c.(1108-1110)GAC>AAC	p.D370N		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	370	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGCCGGGATGACCTCCTGTA	0.597		NA											24	412					0	0	0	0
C3orf70	285382	broad.mit.edu	37	3	184801032	184801032	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:184801032C>G	uc003fpd.2	-	2	707	c.516G>C	c.(514-516)GAG>GAC	p.E172D		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	172											0						GTGTATTGCTCTCTTTTGAAA	0.483		NA											17	159					0	0	0	0
TBCCD1	55171	broad.mit.edu	37	3	186274220	186274220	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr3:186274220C>G	uc003fqg.2	-	4	966	c.837G>C	c.(835-837)AAG>AAC	p.K279N	TBCCD1_uc011bry.1_Missense_Mutation_p.K279N|TBCCD1_uc003fqh.2_Missense_Mutation_p.K183N	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	279					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AAGCCAATTTCTTTCCAGACT	0.353		NA											12	129					0	0	0	0
PIGG	54872	broad.mit.edu	37	4	514999	514999	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:514999G>A	uc003gak.3	+	7	1405	c.1269G>A	c.(1267-1269)CTG>CTA	p.L423L	PIGG_uc003gaj.3_Silent_p.L423L|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.L290L|PIGG_uc003gal.3_Silent_p.L334L|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.L301L|PIGG_uc003gam.2_Intron|PIGG_uc003gan.2_Silent_p.L334L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	423	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GCTTGTCCCTGAGTGCACAAG	0.517		NA											7	85					0	0	0	0
AFAP1	60312	broad.mit.edu	37	4	7780519	7780519	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:7780519G>A	uc003gkg.1	-	13	1888	c.1615C>T	c.(1615-1617)CCC>TCC	p.P539S	AFAP1_uc011bwk.1_Missense_Mutation_p.P623S|LOC84740_uc003gkd.3_RNA	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	539						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						ACAGCCGCGGGATCCGCTTTC	0.527		NA											15	147					0	0	0	0
DCAF16	54876	broad.mit.edu	37	4	17805694	17805694	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:17805694T>C	uc003gpn.2	-	3	1132	c.71A>G	c.(70-72)TAC>TGC	p.Y24C	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	24						CUL4 RING ubiquitin ligase complex				ovary(1)	1						CTCATTTAGGTAACTAATATT	0.438		NA											6	72					0	0	0	0
APBB2	323	broad.mit.edu	37	4	41016054	41016054	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:41016054G>A	uc003gvl.2	-	6	1011	c.381C>T	c.(379-381)GTC>GTT	p.V127V	APBB2_uc003gvm.2_Silent_p.V127V|APBB2_uc003gvn.2_Silent_p.V127V|APBB2_uc011byt.1_Silent_p.V110V	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	127					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						TTATGTTGATGACTGCAGTGG	0.527		NA											6	175					0	0	0	0
ANKRD17	26057	broad.mit.edu	37	4	73951068	73951068	+	Missense_Mutation	SNP	C	C	T	rs139173196		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:73951068C>T	uc003hgp.2	-	30	7174	c.7057G>A	c.(7057-7059)GGA>AGA	p.G2353R	ANKRD17_uc003hgo.2_Missense_Mutation_p.G2240R|ANKRD17_uc003hgq.2_Missense_Mutation_p.G2102R|ANKRD17_uc003hgr.2_Missense_Mutation_p.G2352R	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2353					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCCCAGGTCCGTACATCTGA	0.453		NA											18	279					0	0	0	0
PDLIM5	10611	broad.mit.edu	37	4	95496979	95496979	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:95496979C>T	uc003hti.2	+	5	655	c.504C>T	c.(502-504)GCC>GCT	p.A168A	PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Silent_p.A46A	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	168					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCGTGGCTGCCGTCACTCCTC	0.547		NA											7	218					0	0	0	0
BANK1	55024	broad.mit.edu	37	4	102993520	102993520	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:102993520A>G	uc003hvy.3	+	15	2535	c.2261A>G	c.(2260-2262)AAT>AGT	p.N754S	BANK1_uc003hvx.3_Missense_Mutation_p.N739S|BANK1_uc010ill.2_Missense_Mutation_p.N621S|BANK1_uc003hvz.3_Missense_Mutation_p.N724S	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	754					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ACTGCCCACAATGAAAATAAG	0.254		NA											6	215					0	0	0	0
GLRB	2743	broad.mit.edu	37	4	158073943	158073943	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:158073943G>T	uc003ipj.2	+	9	1180	c.978G>T	c.(976-978)GTG>GTT	p.V326V		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	326					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTCCTATGTGAAGGCTCTTG	0.488		NA											8	209					0.000157383	0.000160895	1	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367348	184367348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:184367348C>T	uc003ivp.1	+	3	673	c.511C>T	c.(511-513)CAG>TAG	p.Q171*	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	171					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGCATCAGCTCAGCAGGAAAA	0.468		NA											5	149					0	0	0	0
SNX25	83891	broad.mit.edu	37	4	186272652	186272652	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr4:186272652G>C	uc003ixh.2	+	14	2052	c.1863G>C	c.(1861-1863)TTG>TTC	p.L621F	SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Missense_Mutation_p.L125F	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	621	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ATGCCTTCTTGAGCCCTTCTC	0.418		NA											18	274					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13901452	13901452	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:13901452G>A	uc003jfd.2	-	14	2003	c.1961C>T	c.(1960-1962)GCA>GTA	p.A654V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	654	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTTGGCTTCTGCCGTGCTTAG	0.562		NA							Kartagener_syndrome				4	92					0	0	0	0
CDH9	1007	broad.mit.edu	37	5	26890572	26890572	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:26890572G>A	uc003jgs.1	-	8	1524	c.1355C>T	c.(1354-1356)CCT>CTT	p.P452L	CDH9_uc011cnv.1_Missense_Mutation_p.P45L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	452	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						GTTATGCCAAGGAGATGATTC	0.398		NA											10	225					0	0	0	0
RAI14	26064	broad.mit.edu	37	5	34814701	34814701	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:34814701C>T	uc003jir.2	+	12	1062	c.866C>T	c.(865-867)TCT>TTT	p.S289F	RAI14_uc010iur.2_Missense_Mutation_p.S260F|RAI14_uc011coj.1_Missense_Mutation_p.S289F|RAI14_uc010ius.1_Missense_Mutation_p.S218F|RAI14_uc003jis.2_Missense_Mutation_p.S292F|RAI14_uc003jit.2_Missense_Mutation_p.S289F|RAI14_uc011cok.1_Missense_Mutation_p.S281F	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	289						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AGTGATGTCTCTTCCCCAAGA	0.363		NA											7	197					0	0	0	0
MAP1B	4131	broad.mit.edu	37	5	71494638	71494638	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:71494638C>T	uc003kbw.3	+	5	5697	c.5456C>T	c.(5455-5457)TCT>TTT	p.S1819F	MAP1B_uc010iyw.1_Missense_Mutation_p.S1836F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1693F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1693F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1819						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTTCCTCTTCTCCACCAATA	0.468		NA											6	120					0	0	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74712757	74712757	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:74712757G>A	uc011csu.1	-	7	1203	c.781C>T	c.(781-783)CAT>TAT	p.H261Y	COL4A3BP_uc003kds.2_Missense_Mutation_p.H261Y|COL4A3BP_uc003kdt.2_Missense_Mutation_p.H389Y|COL4A3BP_uc003kdu.2_Missense_Mutation_p.H261Y	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	261					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TCAATACAATGAGAAAGTGTT	0.353		NA											6	272					0	0	0	0
FNIP1	96459	broad.mit.edu	37	5	131007934	131007934	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:131007934C>T	uc003kvs.1	-	14	2345	c.2203G>A	c.(2203-2205)GAT>AAT	p.D735N	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D707N|FNIP1_uc010jdm.1_Missense_Mutation_p.D690N	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	735					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)		ACAATCTTATCTGGAGGTTTT	0.448		NA											10	429					0	0	0	0
TGFBI	7045	broad.mit.edu	37	5	135391456	135391456	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:135391456C>A	uc003lbf.3	+	11	1659	c.1498C>A	c.(1498-1500)CCC>ACC	p.P500T	TGFBI_uc003lbg.3_Missense_Mutation_p.P233T|TGFBI_uc003lbh.3_Missense_Mutation_p.P326T|TGFBI_uc011cyb.1_Missense_Mutation_p.P326T|TGFBI_uc010jed.2_Missense_Mutation_p.P233T	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	500					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGCTGACCCCCCCAATGGG	0.587		NA											29	51					5.46e-16	5.77e-16	1	0
FAM13B	51306	broad.mit.edu	37	5	137354085	137354085	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:137354085G>A	uc003lbz.2	-	4	810	c.276C>T	c.(274-276)CCC>CCT	p.P92P	FAM13B_uc003lcb.2_5'UTR|FAM13B_uc003lca.2_Silent_p.P92P	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	92	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TAATAGCTGAGGGAACATCTG	0.433		NA											10	202					0	0	0	0
CTNNA1	1495	broad.mit.edu	37	5	138118956	138118956	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:138118956G>A	uc003ldh.2	+	3	291	c.196G>A	c.(196-198)GAA>AAA	p.E66K	CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_5'UTR|CTNNA1_uc003ldi.2_Silent_p.L7L|CTNNA1_uc003ldj.2_Missense_Mutation_p.E66K	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	66	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCATCTGTTGAACAAGCAAC	0.433		NA											7	197					0	0	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237154	140237154	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:140237154G>T	uc003lhx.2	+	1	1521	c.1521G>T	c.(1519-1521)GTG>GTT	p.V507V	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_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.V507V|PCDHA10_uc011dad.1_Silent_p.V507V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	507	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTACGTGTCGGTGCACG	0.692		NA											9	237					7.48e-07	7.78e-07	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563086	140563086	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:140563086C>T	uc003liv.2	+	1	2107	c.952C>T	c.(952-954)CGC>TGC	p.R318C	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	318	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATGAAGTGCGCATCAAAGC	0.473		NA											12	183					0	0	0	0
ARAP3	64411	broad.mit.edu	37	5	141041787	141041787	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:141041787C>T	uc003llm.2	-	20	2914	c.2836G>A	c.(2836-2838)GCT>ACT	p.A946T	ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Missense_Mutation_p.A608T|ARAP3_uc003lln.2_Intron	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	946	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						CGGGCACGAGCGCCCCCTTTC	0.642		NA											8	318					0	0	0	0
ARAP3	64411	broad.mit.edu	37	5	141059994	141059994	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:141059994C>G	uc003llm.2	-	2	138	c.60G>C	c.(58-60)CAG>CAC	p.Q20H	ARAP3_uc003lln.2_5'UTR|ARAP3_uc003llo.1_Missense_Mutation_p.Q20H	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	20	SAM.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						TGTCTGCATACTGCTCCAGGT	0.677		NA											5	121					0	0	0	0
HAVCR2	84868	broad.mit.edu	37	5	156522384	156522384	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:156522384G>A	uc003lwk.1	-	5	753	c.609C>T	c.(607-609)ATC>ATT	p.I203I		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	203	Helical; (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCGATGTAGATGCCTATTC	0.453		NA											5	226					0	0	0	0
ODZ2	57451	broad.mit.edu	37	5	167622191	167622191	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr5:167622191C>G	uc010jjd.2	+	15	2764	c.2764C>G	c.(2764-2766)CTC>GTC	p.L922V	ODZ2_uc003lzr.3_Missense_Mutation_p.L699V|ODZ2_uc003lzt.3_Missense_Mutation_p.L295V|ODZ2_uc010jje.2_Missense_Mutation_p.L193V	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTTGGTTTCTCTCATCCGAGG	0.507		NA											3	45					0	0	0	0
RPP40	10799	broad.mit.edu	37	6	4996630	4996630	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:4996630G>A	uc003mwl.2	-	6	619	c.584C>T	c.(583-585)TCA>TTA	p.S195L	RPP40_uc003mwm.2_Missense_Mutation_p.S172L	NM_006638	NP_006629	O75818	RPP40_HUMAN	ribonuclease P 40kDa subunit	195					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GGAAAAATATGACATCATTGT	0.458		NA											5	130					0	0	0	0
DSP	1832	broad.mit.edu	37	6	7569567	7569567	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:7569567C>G	uc003mxp.1	+	12	1847	c.1568C>G	c.(1567-1569)TCT>TGT	p.S523C	DSP_uc003mxq.1_Missense_Mutation_p.S523C	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	523	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGACCTCTCTTGCAAGTAA	0.572		NA											6	173					0	0	0	0
DSP	1832	broad.mit.edu	37	6	7572178	7572178	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:7572178G>A	uc003mxp.1	+	15	2286	c.2007G>A	c.(2005-2007)CTG>CTA	p.L669L	DSP_uc003mxq.1_Silent_p.L669L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	669	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATGGATGCTGATGGAGCTGC	0.458		NA											6	118					0	0	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10695300	10695300	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:10695300G>C	uc003mzg.2	+	1	113	c.82G>C	c.(82-84)GAG>CAG	p.E28Q	C6orf52_uc011dij.1_5'Flank|C6orf52_uc011dik.1_5'Flank|C6orf52_uc003mzf.3_5'Flank|C6orf52_uc011dil.1_5'Flank	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	28					negative regulation of signal transduction	nucleolus|plasma membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				CGGCGACCACGAGGTGAGATA	0.622		NA											46	110					0	0	0	0
SYCP2L	221711	broad.mit.edu	37	6	10911091	10911091	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:10911091G>A	uc003mzo.2	+	12	1203	c.907G>A	c.(907-909)GAT>AAT	p.D303N	SYCP2L_uc011din.1_Missense_Mutation_p.D144N|SYCP2L_uc010jow.2_Intron	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	303						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGCTTTTGCTGATGAGCATGA	0.408		NA											126	225					0	0	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158465	26158465	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:26158465A>T	uc003ngr.2	+	1	117	c.68A>T	c.(67-69)CAG>CTG	p.Q23L	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.Q23L	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	23					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						ACTAAGGCTCAGAAGAAGGAC	0.532		NA											11	303					0	0	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26251947	26251947	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:26251947G>C	uc003nhh.2	+	1	69	c.69G>C	c.(67-69)CAG>CAC	p.Q23H	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	23					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3						CCAAGGCGCAGAAGAAGGATG	0.552		NA											13	233					0	0	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927554	35927554	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:35927554G>C	uc003olm.2	-	15	1779	c.1668C>G	c.(1666-1668)TTC>TTG	p.F556L	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.F138L|SLC26A8_uc003oln.2_Missense_Mutation_p.F556L|SLC26A8_uc003oll.2_Missense_Mutation_p.F451L	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	556	STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						TGCAGCACTGGAAGATTTTCA	0.393		NA											4	164					0	0	0	0
ZFAND3	60685	broad.mit.edu	37	6	37897761	37897761	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:37897761C>G	uc003onx.2	+	2	513	c.98C>G	c.(97-99)TCC>TGC	p.S33C		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	33	A20-type.						DNA binding|zinc ion binding			ovary(1)	1						AATCTCTGTTCCAAATGCTTT	0.269		NA											6	237					0	0	0	0
DNAH8	1769	broad.mit.edu	37	6	38950169	38950169	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:38950169C>T	uc003ooe.1	+	84	12831	c.12231C>T	c.(12229-12231)TTC>TTT	p.F4077F	DNAH8_uc003oog.1_Silent_p.F526F	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CCTACGAATTCAATTCTGCTG	0.353		NA											10	277					0	0	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42978724	42978724	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:42978724G>A	uc003oth.2	+	15	1746	c.1660G>A	c.(1660-1662)GAG>AAG	p.E554K	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.E522K|PPP2R5D_uc010jyd.2_Missense_Mutation_p.E448K|PPP2R5D_uc011dva.1_Missense_Mutation_p.E403K|PPP2R5D_uc003oti.2_Missense_Mutation_p.E403K|PPP2R5D_uc003otj.2_Missense_Mutation_p.E385K	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	554	Nuclear localization signal (Potential).				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTGGAGACTGAGGCTGTTCA	0.557		NA											8	193					0	0	0	0
TTBK1	84630	broad.mit.edu	37	6	43222389	43222389	+	Silent	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:43222389C>T	uc003ouq.1	+	6	855	c.576C>T	c.(574-576)CCC>CCT	p.P192P		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	192	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ATGTGCGGCCCGTGAGTACCG	0.627		NA											6	111					0	0	0	0
TCTE1	202500	broad.mit.edu	37	6	44254175	44254175	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:44254175C>G	uc003oxi.2	-	3	528	c.372G>C	c.(370-372)CTG>CTC	p.L124L	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	124										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACTGTCTATCAGGTTGGCGG	0.592		NA											10	311					0	0	0	0
CDC5L	988	broad.mit.edu	37	6	44371637	44371637	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:44371637A>T	uc003oxl.2	+	6	890	c.631A>T	c.(631-633)AAT>TAT	p.N211Y		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	211	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTTGATTATAATGCCGAAAT	0.393		NA											64	64					0	0	0	0
PLA2G7	7941	broad.mit.edu	37	6	46673033	46673033	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:46673033G>A	uc010jzf.2	-	11	1315	c.1046C>T	c.(1045-1047)TCA>TTA	p.S349L	PLA2G7_uc010jzg.1_Nonsense_Mutation_p.Q286*	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	349					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			CTGGTGGACTGAACCCCTAAA	0.333		NA											4	70					0	0	0	0
DST	667	broad.mit.edu	37	6	56357812	56357812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:56357812G>A	uc003pdf.2	-	78	14141	c.14113C>T	c.(14113-14115)CAG>TAG	p.Q4705*	DST_uc003pcz.3_Nonsense_Mutation_p.Q4527*|DST_uc011dxj.1_Nonsense_Mutation_p.Q4556*|DST_uc011dxk.1_Nonsense_Mutation_p.Q4567*|DST_uc003pcy.3_Nonsense_Mutation_p.Q4201*|DST_uc003pda.3_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6613	Spectrin 17.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTCAGCCTGAGTAAGCCAG	0.428		NA											5	37					0	0	0	0
DST	667	broad.mit.edu	37	6	56513371	56513371	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:56513371C>G	uc003pdf.2	-	12	1480	c.1452G>C	c.(1450-1452)CTG>CTC	p.L484L	DST_uc003pcz.3_Silent_p.L306L|DST_uc011dxj.1_Silent_p.L335L|DST_uc011dxk.1_Silent_p.L346L|DST_uc011dxl.1_Silent_p.L335L|DST_uc003pde.2_Silent_p.L422L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	306					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACTAACCTTCAGTTCTACAG	0.333		NA											3	20					0	0	0	0
KHDC1	80759	broad.mit.edu	37	6	73952217	73952217	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:73952217G>A	uc003pgo.2	-	3	744	c.243C>T	c.(241-243)CTC>CTT	p.L81L	KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Silent_p.L8L	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	81						integral to membrane	RNA binding			skin(1)	1						GCTTCTTGCTGAGAGCACTCG	0.527		NA											11	229					0	0	0	0
PHIP	55023	broad.mit.edu	37	6	79787178	79787178	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:79787178G>A	uc003pir.2	-	4	402	c.176C>T	c.(175-177)ACC>ATC	p.T59I	PHIP_uc011dyp.1_Missense_Mutation_p.T59I	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	59					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTCTGGTAggtcctgggatg	0.184		NA											8	171					0	0	0	0
SIM1	6492	broad.mit.edu	37	6	100901696	100901696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:100901696G>C	uc003pqj.3	-	2	407	c.200C>G	c.(199-201)TCA>TGA	p.S67*	SIM1_uc010kcu.2_Nonsense_Mutation_p.S67*	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	67					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTCCGACTTGAGTGGCCCCA	0.617		NA											52	106					0	0	0	0
SOBP	55084	broad.mit.edu	37	6	107956425	107956425	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:107956425G>A	uc003prx.2	+	6	2881	c.2377G>A	c.(2377-2379)GAG>AAG	p.E793K		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	793							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCTGATGGGCGAGGAGGCCCT	0.632		NA											7	162					0	0	0	0
PTPRK	5796	broad.mit.edu	37	6	128291404	128291404	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:128291404C>T	uc003qbk.2	-	30	4655	c.4288G>A	c.(4288-4290)GAT>AAT	p.D1430N	PTPRK_uc003qbj.2_Missense_Mutation_p.D1431N|PTPRK_uc010kfc.2_Missense_Mutation_p.D1437N|PTPRK_uc011ebu.1_Missense_Mutation_p.D1453N	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1430	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAGCTACATCATAGCAGAAA	0.383		NA											5	106					0	0	0	0
TIAM2	26230	broad.mit.edu	37	6	155450635	155450635	+	Missense_Mutation	SNP	C	C	T	rs141887143		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:155450635C>T	uc003qqb.2	+	6	1551	c.278C>T	c.(277-279)ACG>ATG	p.T93M	TIAM2_uc003qqe.2_Missense_Mutation_p.T93M	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	93					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCCTACTCCACGCACAGGACA	0.552		NA											5	76					0	0	0	0
PNLDC1	154197	broad.mit.edu	37	6	160222178	160222178	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:160222178G>C	uc003qsx.1	+	3	306	c.135G>C	c.(133-135)AAG>AAC	p.K45N	PNLDC1_uc003qsy.1_Missense_Mutation_p.K56N	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	45	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGTATCTAAAGACCCGTCAGA	0.433		NA											16	440					0	0	0	0
IQCE	23288	broad.mit.edu	37	7	2623917	2623917	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:2623917G>A	uc003smo.3	+	11	1006	c.822G>A	c.(820-822)AAG>AAA	p.K274K	IQCE_uc010ksm.1_Silent_p.K274K|IQCE_uc003sml.1_Silent_p.K274K|IQCE_uc011jvy.1_Silent_p.K258K|IQCE_uc011jvz.1_Silent_p.K209K|IQCE_uc003smk.3_Silent_p.K258K|IQCE_uc003smn.3_Silent_p.K209K	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	274											0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCACCGGAAAGAAGTATGATG	0.483		NA											10	293					0	0	0	0
TMEM196	256130	broad.mit.edu	37	7	19765224	19765224	+	Silent	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:19765224G>T	uc011jyg.1	-	3	457	c.372C>A	c.(370-372)CTC>CTA	p.L124L	TMEM196_uc003sur.2_RNA	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	130						integral to membrane					0						GTCGACAAGTGAGCCAGGAAG	0.512		NA											6	107					0.00116845	0.00118789	1	0
HOXA4	3201	broad.mit.edu	37	7	27169017	27169017	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:27169017G>C	uc003sym.3	-	2	837	c.790C>G	c.(790-792)CAG>GAG	p.Q264E	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	264	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTCCGGTTCTGAAACCAGATC	0.582		NA											11	245					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55240703	55240703	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:55240703G>A	uc003tqk.2	+	17	2193	c.1947G>A	c.(1945-1947)GGG>GGA	p.G649G	EGFR_uc010kzg.1_Silent_p.G604G|EGFR_uc011kco.1_Silent_p.G596G	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	649	Helical; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCCACTGGGATGGTGGGGG	0.632		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	222					0	0	0	0
PION	54103	broad.mit.edu	37	7	77006225	77006225	+	Splice_Site	SNP	C	C	G	rs10268488		TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:77006225C>G	uc003ugf.2	-	10	761	c.682_splice	c.e10-1	p.K228_splice	PION_uc003ugg.1_Splice_Site_p.K13_splice	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog						beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						TCCTTGATTTCTAAAAGAGAA	0.308		NA											7	136					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91630469	91630469	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:91630469A>G	uc003ulg.2	+	8	1463	c.1238A>G	c.(1237-1239)CAG>CGG	p.Q413R	AKAP9_uc003ule.2_Missense_Mutation_p.Q425R|AKAP9_uc003ulf.2_Missense_Mutation_p.Q413R|AKAP9_uc003uli.2_Missense_Mutation_p.Q38R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	425	Glu-rich.|Potential.				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)			AAAGACAGCCAGTTCGAAACT	0.323		NA	T	BRAF	papillary thyroid								32	86					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91726995	91726995	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:91726995G>C	uc003ulg.2	+	42	10719	c.10494G>C	c.(10492-10494)TTG>TTC	p.L3498F	AKAP9_uc003ulf.2_Missense_Mutation_p.L3490F|AKAP9_uc003uli.2_Missense_Mutation_p.L3121F|AKAP9_uc003ulj.2_Missense_Mutation_p.L1268F|AKAP9_uc003ull.2_Missense_Mutation_p.L394F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3502					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)			ACGCTAAATTGATTGAAATGA	0.393		NA	T	BRAF	papillary thyroid								5	166					0	0	0	0
ZNF394	84124	broad.mit.edu	37	7	99091737	99091737	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:99091737G>C	uc003uqs.2	-	3	1262	c.1101C>G	c.(1099-1101)TTC>TTG	p.F367L	ZNF394_uc003uqt.2_Missense_Mutation_p.F160L	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	367	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCGTTGTTTGAAACTCTTCC	0.483		NA											7	269					0	0	0	0
ZAN	7455	broad.mit.edu	37	7	100365621	100365621	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:100365621C>G	uc003uwj.2	+	26	5193	c.5028C>G	c.(5026-5028)CTC>CTG	p.L1676L	ZAN_uc003uwk.2_Silent_p.L1676L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.L253L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1676	Extracellular (Potential).|VWFD 2.				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)			GCGGCCAGCTCTGTGGGCTGT	0.602		NA											5	35					0	0	0	0
TRIM56	81844	broad.mit.edu	37	7	100732101	100732101	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:100732101G>C	uc003uxq.2	+	3	1739	c.1508G>C	c.(1507-1509)GGA>GCA	p.G503A	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	503					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGATGCCTGGAGACAAGCGG	0.657		NA											82	194					0	0	0	0
MLL5	55904	broad.mit.edu	37	7	104746007	104746007	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:104746007C>G	uc003vcm.2	+	18	2852	c.2318C>G	c.(2317-2319)TCT>TGT	p.S773C	MLL5_uc010ljc.2_Missense_Mutation_p.S773C|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	773					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CAACTCAATTCTTTACCAGGT	0.398		NA											8	236					0	0	0	0
NRCAM	4897	broad.mit.edu	37	7	107866759	107866759	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:107866759G>T	uc003vfb.2	-	9	1085	c.614C>A	c.(613-615)TCC>TAC	p.S205Y	NRCAM_uc003vfc.2_Missense_Mutation_p.S199Y|NRCAM_uc011kmk.1_Missense_Mutation_p.S200Y|NRCAM_uc003vfd.2_Missense_Mutation_p.S200Y|NRCAM_uc003vfe.2_Missense_Mutation_p.S200Y	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	205	Ig-like 2.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						GAGGACATTGGAAAAATAAAG	0.413		NA											8	279					2.18e-05	2.24e-05	1	0
NRCAM	4897	broad.mit.edu	37	7	107866787	107866787	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:107866787G>C	uc003vfb.2	-	9	1057	c.586C>G	c.(586-588)CAA>GAA	p.Q196E	NRCAM_uc003vfc.2_Missense_Mutation_p.Q190E|NRCAM_uc011kmk.1_Missense_Mutation_p.Q191E|NRCAM_uc003vfd.2_Missense_Mutation_p.Q191E|NRCAM_uc003vfe.2_Missense_Mutation_p.Q191E	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	196	Ig-like 2.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						TTCAAACCTTGAGAAACTCTC	0.403		NA											6	252					0	0	0	0
DOCK4	9732	broad.mit.edu	37	7	111368537	111368537	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:111368537C>G	uc003vfx.2	-	52	5963	c.5694G>C	c.(5692-5694)AAG>AAC	p.K1898N	DOCK4_uc011kml.1_Missense_Mutation_p.K779N|DOCK4_uc011kmm.1_Missense_Mutation_p.K767N|DOCK4_uc003vfw.2_Missense_Mutation_p.K1310N|DOCK4_uc003vfy.2_Missense_Mutation_p.K1943N|DOCK4_uc003vfv.2_Missense_Mutation_p.K211N	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1898	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GGGGCGGAGTCTTGCTCTCCT	0.692		NA											4	71					0	0	0	0
FAM40B	57464	broad.mit.edu	37	7	129122805	129122805	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:129122805G>C	uc011koy.1	+	20	2212	c.2172G>C	c.(2170-2172)TGG>TGC	p.W724C	FAM40B_uc003vow.2_Missense_Mutation_p.W724C|FAM40B_uc011koz.1_Missense_Mutation_p.W216C	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	724											0						GGCGCCAATGGAGGAAAAGCA	0.488		NA											7	107					0	0	0	0
DGKI	9162	broad.mit.edu	37	7	137363312	137363312	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:137363312G>C	uc003vtt.2	-	3	598	c.597C>G	c.(595-597)GTC>GTG	p.V199V	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	199	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CTGCAAATCTGACTTGGCAGT	0.532		NA											23	473					0	0	0	0
JHDM1D	80853	broad.mit.edu	37	7	139827294	139827294	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:139827294G>A	uc003vvm.2	-	5	653	c.649C>T	c.(649-651)CCT>TCT	p.P217S		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	217					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					GGTCTGTTAGGATTCATGAAG	0.378		NA											11	227					0	0	0	0
BRAF	673	broad.mit.edu	37	7	140434447	140434447	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:140434447G>C	uc003vwc.3	-	18	2312	c.2251C>G	c.(2251-2253)CCA>GCA	p.P751A		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	751					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GGTGTTTTTGGAGAAGCACAA	0.463		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				28	609					0	0	0	0
PDIA4	9601	broad.mit.edu	37	7	148702240	148702240	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr7:148702240G>A	uc003wff.2	-	9	1797	c.1515C>T	c.(1513-1515)TTC>TTT	p.F505F		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	505	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CACCTTTTTTGAAAGCAGTGA	0.602		NA											12	328					0	0	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19316071	19316071	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:19316071G>A	uc011kyn.1	-	5	1781	c.717C>T	c.(715-717)CTC>CTT	p.L239L	CSGALNACT1_uc011kyo.1_Silent_p.L239L|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.L238L|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	239	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		GAAATAAGATGAGCCGTTTGA	0.433		NA											20	529					0	0	0	0
PDLIM2	64236	broad.mit.edu	37	8	22438988	22438988	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:22438988G>C	uc003xby.2	+	3	590	c.190G>C	c.(190-192)GAG>CAG	p.E64Q	PDLIM2_uc003xbx.1_Missense_Mutation_p.E64Q|PDLIM2_uc003xbz.2_Missense_Mutation_p.E64Q|PDLIM2_uc003xca.2_Missense_Mutation_p.E64Q|PDLIM2_uc003xcb.2_Missense_Mutation_p.E64Q|PDLIM2_uc003xcc.1_Missense_Mutation_p.E64Q	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	64	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTGCATGCCGAGGCCCAGAG	0.682		NA											3	60					0	0	0	0
TACC1	6867	broad.mit.edu	37	8	38677342	38677342	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:38677342G>A	uc010lwp.2	+	3	959	c.580G>A	c.(580-582)GAG>AAG	p.E194K	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_5'UTR|TACC1_uc003xmc.3_5'UTR|TACC1_uc011lbz.1_Missense_Mutation_p.E210K|TACC1_uc003xmb.3_Missense_Mutation_p.E149K|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Missense_Mutation_p.E194K|TACC1_uc011lcb.1_5'UTR|TACC1_uc011lcc.1_5'UTR|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_5'UTR|TACC1_uc010lwq.2_5'UTR	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	194	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTCCAGGACGAGGCGATGAC	0.597		NA											8	257					0	0	0	0
HOOK3	84376	broad.mit.edu	37	8	42823326	42823326	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:42823326C>T	uc003xpr.2	+	11	1333	c.1091C>T	c.(1090-1092)GCG>GTG	p.A364V	HOOK3_uc010lxq.1_Missense_Mutation_p.A364V	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	364	Potential.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			ovary(1)|breast(1)	2	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCCAACGCAGCGCGAAGTCAA	0.418		NA	T	RET	papillary thyroid								4	72					0	0	0	0
ST18	9705	broad.mit.edu	37	8	53079543	53079543	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:53079543G>A	uc003xqz.2	-	6	1229	c.1073C>T	c.(1072-1074)TCA>TTA	p.S358L	ST18_uc011ldq.1_Missense_Mutation_p.S5L|ST18_uc011ldr.1_Missense_Mutation_p.S323L|ST18_uc011lds.1_Missense_Mutation_p.S263L|ST18_uc003xra.2_Missense_Mutation_p.S358L|ST18_uc003xrb.2_Missense_Mutation_p.S358L	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	358						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGCCTTGGTGAATCTATGGA	0.493		NA											158	177					0	0	0	0
LY96	23643	broad.mit.edu	37	8	74922333	74922333	+	Silent	SNP	C	C	T	rs148048520	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:74922333C>T	uc003yad.2	+	3	391	c.300C>T	c.(298-300)GAC>GAT	p.D100D		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	100					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GATCTGATGACGATTACTCTT	0.313		NA											92	90					0	0	0	0
ZNF704	619279	broad.mit.edu	37	8	81733769	81733769	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:81733769G>C	uc003yby.1	-	2	293	c.61C>G	c.(61-63)CAA>GAA	p.Q21E		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	21						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AACACGTGTTGATGAGACATT	0.438		NA											23	783					0	0	0	0
PDP1	54704	broad.mit.edu	37	8	94934633	94934633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:94934633C>T	uc003yge.2	+	2	615	c.346C>T	c.(346-348)CAG>TAG	p.Q116*	PDP1_uc003ygf.2_Nonsense_Mutation_p.Q141*|PDP1_uc010max.2_Nonsense_Mutation_p.Q141*|PDP1_uc011lgm.1_Nonsense_Mutation_p.Q116*|PDP1_uc011lgn.1_Nonsense_Mutation_p.Q175*	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	116				NVSSILGFDSNQ -> MSVLSLDLTAIK (in Ref. 1; AAF67480).	pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						TGACAGCAATCAGCTGCCTGC	0.463		NA											11	318					0	0	0	0
ATAD2	29028	broad.mit.edu	37	8	124358863	124358863	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:124358863C>G	uc003yqh.3	-	17	2448	c.2340G>C	c.(2338-2340)TTG>TTC	p.L780F	ATAD2_uc011lii.1_Missense_Mutation_p.L571F|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.L780F	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATACCTATTCAAATGAAGAA	0.279		NA											3	91					0	0	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228605	142228605	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr8:142228605C>G	uc003ywd.1	-	4	1289	c.981G>C	c.(979-981)TTG>TTC	p.L327F	SLC45A4_uc003ywc.1_Missense_Mutation_p.L327F|SLC45A4_uc010meq.1_Missense_Mutation_p.L325F	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	378					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGCTTCATTCAAGTGATTAT	0.617		NA											4	175					0	0	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920395	5920395	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:5920395G>A	uc003zjq.3	-	8	5817	c.5601C>T	c.(5599-5601)TTC>TTT	p.F1867F	KIAA2026_uc010mht.2_Silent_p.F1042F	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1867										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGGTTCACTGAACTGACTCC	0.448		NA											13	345					0	0	0	0
BNC2	54796	broad.mit.edu	37	9	16435892	16435892	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:16435892G>A	uc003zml.2	-	6	2440	c.2300C>T	c.(2299-2301)TCT>TTT	p.S767F	BNC2_uc011lmw.1_Missense_Mutation_p.S672F|BNC2_uc003zmm.2_Missense_Mutation_p.S725F|BNC2_uc003zmq.1_Missense_Mutation_p.S781F|BNC2_uc003zmr.1_Missense_Mutation_p.S804F|BNC2_uc003zmp.1_Missense_Mutation_p.S795F|BNC2_uc010mij.1_Missense_Mutation_p.S689F|BNC2_uc011lmv.1_Missense_Mutation_p.S593F|BNC2_uc003zmo.1_Missense_Mutation_p.S689F|BNC2_uc003zmj.2_Missense_Mutation_p.S532F|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S532F|BNC2_uc003zmn.1_Missense_Mutation_p.S532F	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		GTCCTGGTGAGAGGGCTCACT	0.502		NA											4	99					0	0	0	0
DENND4C	55667	broad.mit.edu	37	9	19316773	19316773	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:19316773C>G	uc003znq.2	+	8	1068	c.1035C>G	c.(1033-1035)CTC>CTG	p.L345L	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	345	dDENN.					integral to membrane				ovary(1)|skin(1)	2						GAACATATCTCAGACCAATCA	0.393		NA											6	314					0	0	0	0
KIAA1797	54914	broad.mit.edu	37	9	20820388	20820388	+	Silent	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:20820388C>G	uc003zog.1	+	15	1989	c.1626C>G	c.(1624-1626)GTC>GTG	p.V542V	KIAA1797_uc003zoh.1_5'UTR	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	542						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		TAAGAGCTGTCACTTTGCGCT	0.353		NA											4	175					0	0	0	0
IFNE	338376	broad.mit.edu	37	9	21481364	21481364	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:21481364G>A	uc003zpg.2	-	1	949	c.330C>T	c.(328-330)CTC>CTT	p.L110L	LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	interferon, epsilon precursor	110					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0						GAAGTTGAATGAGGAATTTCT	0.448		NA											11	265					0	0	0	0
IFNE	338376	broad.mit.edu	37	9	21481504	21481504	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:21481504G>C	uc003zpg.2	-	1	809	c.190C>G	c.(190-192)CAG>GAG	p.Q64E	LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	interferon, epsilon precursor	64					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0						AAAGACTTCTGAGGAAGCAGA	0.418		NA											3	118					0	0	0	0
RGP1	9827	broad.mit.edu	37	9	35751361	35751361	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:35751361G>C	uc011lpf.1	+	6	727	c.586G>C	c.(586-588)GAG>CAG	p.E196Q	GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.E236Q	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	196										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCTAGCTGAGCTGGCTGG	0.547		NA											5	139					0	0	0	0
NPR2	4882	broad.mit.edu	37	9	35807370	35807370	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:35807370T>C	uc003zyd.2	+	18	2687	c.2687T>C	c.(2686-2688)ATA>ACA	p.I896T	NPR2_uc010mlb.2_Missense_Mutation_p.I872T	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	896	Guanylate cyclase.|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)	TTTGATGCCATAATTGACAAC	0.443		NA											40	313					0	0	0	0
ZNF658	26149	broad.mit.edu	37	9	40772638	40772638	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:40772638C>G	uc004abs.2	-	5	2789	c.2637G>C	c.(2635-2637)GAG>GAC	p.E879D	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.E879D	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CATAGGGTTTCTCCCCTGTGT	0.443		NA											12	226					0	0	0	0
NTRK2	4915	broad.mit.edu	37	9	87325654	87325654	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:87325654G>A	uc004aoa.1	+	8	1469	c.531G>A	c.(529-531)CTG>CTA	p.L177L	NTRK2_uc004anv.1_Silent_p.L177L|NTRK2_uc004any.1_Silent_p.L177L|NTRK2_uc004anz.1_Silent_p.L177L|NTRK2_uc011lsz.1_Silent_p.L177L|NTRK2_uc011lta.1_Silent_p.L177L|NTRK2_uc004aob.1_Silent_p.L177L|NTRK2_uc011ltb.1_Silent_p.L21L	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	177	Extracellular (Potential).|LRRCT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						TGTACTGCCTGAATGAAAGCA	0.403		NA								TSP Lung(25;0.17)			5	124					0	0	0	0
C9orf79	286234	broad.mit.edu	37	9	90500184	90500184	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:90500184C>T	uc004app.3	+	4	817	c.782C>T	c.(781-783)TCC>TTC	p.S261F	C9orf79_uc004apo.1_Missense_Mutation_p.S73F	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	261	Pro-rich.					integral to membrane				ovary(3)	3						CCACCCGACTCCAGCCTGGCT	0.607		NA											9	141					0	0	0	0
ZNF169	169841	broad.mit.edu	37	9	97062673	97062673	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:97062673C>G	uc004aum.1	+	5	938	c.833C>G	c.(832-834)TCC>TGC	p.S278C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	278	C2H2-type 2.			SLS -> PSP (in Ref. 5; AAA70188).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GCCTCCCTCTCCATACACCAG	0.542		NA											4	172					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113275356	113275356	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:113275356C>T	uc010mtz.2	-	5	1490	c.1153G>A	c.(1153-1155)GAA>AAA	p.E385K	SVEP1_uc010mua.1_Missense_Mutation_p.E385K|SVEP1_uc004beu.2_Missense_Mutation_p.E385K|SVEP1_uc004bev.2_Missense_Mutation_p.E129K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	385	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TAACCATTTTCGGGAGGCTTC	0.403		NA											14	62					0	0	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687445	130687445	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:130687445G>A	uc011mao.1	-	9	903	c.858C>T	c.(856-858)TTC>TTT	p.F286F	PIP5KL1_uc004bsu.2_Silent_p.F83F	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	286	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						GGAGACGTTGGAAGGCTATCA	0.637		NA											10	181					0	0	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687478	130687478	+	Silent	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:130687478G>C	uc011mao.1	-	9	870	c.825C>G	c.(823-825)CTC>CTG	p.L275L	PIP5KL1_uc004bsu.2_Silent_p.L72L	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	275	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						CCAGCACGTTGAGCTCCCGGA	0.602		NA											5	142					0	0	0	0
PRDM12	59335	broad.mit.edu	37	9	133542052	133542052	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:133542052C>G	uc004bzt.1	+	2	341	c.281C>G	c.(280-282)TCC>TGC	p.S94C		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	94	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCTCAGAGCTCCATCCCTGGC	0.672		NA											6	197					0	0	0	0
C9orf171	389799	broad.mit.edu	37	9	135357756	135357756	+	Silent	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr9:135357756G>A	uc004cbn.2	+	2	303	c.255G>A	c.(253-255)CAG>CAA	p.Q85Q	C9orf171_uc004cbo.2_Intron	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	85										ovary(4)|large_intestine(1)	5						CAGCGGTGCAGAAAGTTATTC	0.493		NA											10	172					0	0	0	0
ARSH	347527	broad.mit.edu	37	X	2947379	2947379	+	Missense_Mutation	SNP	C	C	G	rs145847839	byFrequency	TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:2947379C>G	uc011mhj.1	+	8	1291	c.1291C>G	c.(1291-1293)CTG>GTG	p.L431V		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	431						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGGGTCTATCTGCACACGGT	0.572		NA											9	97					0	0	0	0
S100G	795	broad.mit.edu	37	X	16669151	16669151	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:16669151G>A	uc004cxn.1	+	2	76	c.22G>A	c.(22-24)GAG>AAG	p.E8K	CTPS2_uc004cxk.2_Intron|CTPS2_uc004cxl.2_Intron|CTPS2_uc004cxm.2_Intron	NM_004057	NP_004048	P29377	S100G_HUMAN	calbindin 3	8							calcium ion binding|vitamin D binding				0	Hepatocellular(33;0.0997)					AAAGTCTCCTGAGGAACTGAA	0.393		NA											5	103					0	0	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008677	88008677	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:88008677G>C	uc004efd.3	+	3	521	c.262G>C	c.(262-264)GAG>CAG	p.E88Q	CPXCR1_uc004efc.3_Missense_Mutation_p.E88Q	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	88						intracellular	zinc ion binding			ovary(3)	3						TCTAAAAGAAGAGCTTCTTCT	0.443		NA											26	9					0	0	0	0
MCF2	4168	broad.mit.edu	37	X	138698572	138698572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chrX:138698572G>A	uc004fau.2	-	9	1354	c.1060C>T	c.(1060-1062)CAG>TAG	p.Q354*	MCF2_uc004fav.2_Nonsense_Mutation_p.Q354*|MCF2_uc011mwl.1_Nonsense_Mutation_p.Q315*|MCF2_uc010nsh.1_Nonsense_Mutation_p.Q354*|MCF2_uc011mwm.1_Nonsense_Mutation_p.Q315*|MCF2_uc011mwn.1_Nonsense_Mutation_p.Q499*|MCF2_uc004faw.2_Nonsense_Mutation_p.Q414*|MCF2_uc011mwo.1_Nonsense_Mutation_p.Q414*	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	354					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					TCTTTAGACTGAAACTTATCT	0.338		NA											4	67					0	0	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr12:72057256_72057258delGCT	uc001swo.2	-	1	492_494	c.133_135delAGC	c.(133-135)AGCdel	p.S45del	ZFC3H1_uc010sts.1_In_Frame_Del_p.S45del|ZFC3H1_uc001swp.2_In_Frame_Del_p.S45del|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	45	Ser-rich.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GCCCGCCGCCGCTGCTGCTGCTG	0.631		NA									OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	481	---	---	---	---	NA	NA	NA	NA
RPS6KA5	9252	broad.mit.edu	37	14	91366509	91366509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr14:91366509delC	uc001xys.2	-	11	1537	c.1322delG	c.(1321-1323)CGAfs	p.R441fs	RPS6KA5_uc010twi.1_Frame_Shift_Del_p.R362fs|RPS6KA5_uc001xyt.2_Frame_Shift_Del_p.R441fs	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	441	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CACACACTTTCGACAAATTGA	0.333		NA											9	136	---	---	---	---	NA	NA	NA	NA
RNMTL1	55178	broad.mit.edu	37	17	686565	686566	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:686565_686566insG	uc002frw.2	+	2	663_664	c.557_558insG	c.(556-558)ATGfs	p.M186fs	GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	186					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CAAGGAATAATGGGTTAGTGAT	0.272		NA											9	41	---	---	---	---	NA	NA	NA	NA
SAT2	112483	broad.mit.edu	37	17	7529794	7529795	+	Frame_Shift_Ins	INS	-	-	TCCT			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr17:7529794_7529795insTCCT	uc002gic.2	-	6	724_725	c.483_484insAGGA	c.(481-486)GGAGAGfs	p.G161fs	SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SHBG_uc010cmu.2_Intron|SAT2_uc002gib.1_RNA|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	diamine N-acetyltransferase 2	161_162	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)			0				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	CTCGTTGCCTCTCCTTGAAAGC	0.545		NA											16	288	---	---	---	---	NA	NA	NA	NA
CNKSR3	154043	broad.mit.edu	37	6	154831247	154831248	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-4223-01A-01D-1434-08	TCGA-BB-4223-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c4799ee4-3014-4b2f-ba7e-9771ab5dc3f1	5e0586d3-8efa-4b1c-a91c-993472fae18f	g.chr6:154831247_154831248insG	uc003qpy.2	-	1	506_507	c.1_2insC	c.(1-3)ATGfs	p.M1fs		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	1					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CACGGGTTCCATGGTAAACCGC	0.683		NA											81	241	---	---	---	---	NA	NA	NA	NA