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
NMNAT1	64802	broad.mit.edu	37	1	10032236	10032236	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:10032236G>C	uc001aqp.2	+	2	249	c.105G>C	c.(103-105)ATG>ATC	p.M35I		NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN	nicotinamide mononucleotide adenylyltransferase	35					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding				0		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		AGGACTACATGAATGGAACAG	0.343		NA											29	150					0	0	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101195	16101195	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:16101195C>T	uc001axd.1	+	8	1237	c.794C>T	c.(793-795)TCC>TTC	p.S265F	FBLIM1_uc001axe.1_Missense_Mutation_p.S265F|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.S265F|FBLIM1_uc001axh.1_Missense_Mutation_p.S168F|FBLIM1_uc001axi.1_Missense_Mutation_p.S168F	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	265	LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TTCCACCCCTCCTGCTTCACG	0.632		NA											10	95					0	0	0	0
SPEN	23013	broad.mit.edu	37	1	16259153	16259153	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:16259153G>C	uc001axk.1	+	11	6622	c.6418G>C	c.(6418-6420)GAT>CAT	p.D2140H	SPEN_uc010obp.1_Missense_Mutation_p.D2099H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2140	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTGAAAAGTGATCCAGTTGA	0.547		NA											26	115					0	0	0	0
IL28RA	163702	broad.mit.edu	37	1	24484051	24484051	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:24484051C>T	uc001bis.2	-	7	1145	c.1132G>A	c.(1132-1134)GAA>AAA	p.E378K	IL28RA_uc001bir.2_Missense_Mutation_p.E349K|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Missense_Mutation_p.E294K	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	378	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		GAGGAGCCTTCGCTTGGGACC	0.627		NA											7	22					0	0	0	0
SFN	2810	broad.mit.edu	37	1	27190100	27190100	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:27190100G>A	uc001bnc.1	+	1	468	c.397G>A	c.(397-399)GAG>AAG	p.E133K	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	133					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CTACCTGGCCGAGGTGGCCAC	0.622		NA											10	50					0	0	0	0
SPOCD1	90853	broad.mit.edu	37	1	32257825	32257825	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32257825C>T	uc001bts.1	-	15	3011	c.2953G>A	c.(2953-2955)GGG>AGG	p.G985R	SPOCD1_uc001btr.1_Missense_Mutation_p.G73R|SPOCD1_uc001btt.2_Missense_Mutation_p.G290R|SPOCD1_uc001btu.2_Missense_Mutation_p.G985R|SPOCD1_uc001btv.2_Missense_Mutation_p.G478R	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	985					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTGGGCCCCCCAAAGGGCGC	0.662		NA											3	7					0	0	0	0
KPNA6	23633	broad.mit.edu	37	1	32622524	32622524	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32622524C>G	uc001bug.2	+	3	297	c.209C>G	c.(208-210)TCT>TGT	p.S70C	KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Missense_Mutation_p.S67C|KPNA6_uc010ogy.1_Missense_Mutation_p.S75C|KPNA6_uc009vtz.2_Missense_Mutation_p.S9C	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	70					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCATGGACTCTTATGTGAGC	0.458		NA											5	78					0	0	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678154	32678154	+	Silent	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:32678154T>C	uc001bun.2	+	5	591	c.591T>C	c.(589-591)TAT>TAC	p.Y197Y		NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	197	Doublecortin 2.				intracellular signal transduction						0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCCATTACTATGTGGCTGTCG	0.592		NA											7	46					0	0	0	0
MCOLN3	55283	broad.mit.edu	37	1	85488044	85488044	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:85488044T>C	uc001dkp.2	-	10	1228	c.1135A>G	c.(1135-1137)ACT>GCT	p.T379A	MCOLN3_uc001dko.2_5'UTR|MCOLN3_uc001dkq.2_Missense_Mutation_p.T323A	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	379	Helical; (Potential).					integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATGGTAGAAGTCCCAAGAAGT	0.368		NA											5	29					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103364318	103364318	+	Silent	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:103364318A>G	uc001dul.2	-	56	4470	c.4152T>C	c.(4150-4152)GGT>GGC	p.G1384G	COL11A1_uc001duk.2_Silent_p.G580G|COL11A1_uc001dum.2_Silent_p.G1396G|COL11A1_uc001dun.2_Silent_p.G1345G|COL11A1_uc009weh.2_Silent_p.G1268G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1384	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCTTCTGCACCTGCTTCCC	0.463		NA											6	53					0	0	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462868	120462868	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:120462868C>G	uc001eik.2	-	30	5719	c.5463G>C	c.(5461-5463)GTG>GTC	p.V1821V		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1821	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACGGACATTCACATCTAACA	0.587		NA	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				4	28					0	0	0	0
PSMD4	5710	broad.mit.edu	37	1	151234661	151234661	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:151234661G>A	uc001exl.2	+	2	113	c.51G>A	c.(49-51)CGG>CGA	p.R17R	PSMD4_uc001exn.2_Silent_p.R17R	NM_002810	NP_002801	P55036	PSMD4_HUMAN	proteasome 26S non-ATPase subunit 4	17	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGTATATGCGGAATGGAGACT	0.493		NA											11	93					0	0	0	0
CELF3	11189	broad.mit.edu	37	1	151680372	151680372	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:151680372C>G	uc001eys.1	-	6	1320	c.526G>C	c.(526-528)GAG>CAG	p.E176Q	CELF3_uc010pdh.1_5'UTR|CELF3_uc001eyr.2_Missense_Mutation_p.E175Q|CELF3_uc009wmy.2_Missense_Mutation_p.E176Q|CELF3_uc009wmx.1_Missense_Mutation_p.E176Q|CELF3_uc001eyt.2_Missense_Mutation_p.E99Q|C1orf230_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	176					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						CGCTCCTTCTCAGTGTCAGCA	0.642		NA											4	27					0	0	0	0
KIAA0907	22889	broad.mit.edu	37	1	155893435	155893435	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:155893435C>T	uc001fmi.1	-	8	961	c.937G>A	c.(937-939)GAG>AAG	p.E313K	KIAA0907_uc001fmj.1_Missense_Mutation_p.E313K|KIAA0907_uc009wrk.1_Missense_Mutation_p.E170K|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.E313K	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	313											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AAAAGATTCTCACAAAGCTTC	0.383		NA											13	56					0	0	0	0
SMG5	23381	broad.mit.edu	37	1	156238112	156238112	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156238112C>T	uc001foc.3	-	8	957	c.808G>A	c.(808-810)GAG>AAG	p.E270K		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	270					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					TTCCGAGTCTCACACTTCTTC	0.532		NA											38	267					0	0	0	0
BCAN	63827	broad.mit.edu	37	1	156618362	156618362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156618362G>C	uc001fpp.2	+	6	1108	c.772G>C	c.(772-774)GAA>CAA	p.E258Q	BCAN_uc001fpo.2_Missense_Mutation_p.E258Q	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	258	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ccacCCAGGAGAACTGTTCCT	0.323		NA											11	80					0	0	0	0
NES	10763	broad.mit.edu	37	1	156641455	156641455	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:156641455G>C	uc001fpq.2	-	4	2658	c.2525C>G	c.(2524-2526)TCT>TGT	p.S842C		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	842	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTTTCTGGAGATTTCAGTGT	0.433		NA											12	126					0	0	0	0
IFI16	3428	broad.mit.edu	37	1	159019357	159019357	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:159019357C>G	uc001ftg.2	+	8	1755	c.1465C>G	c.(1465-1467)CCA>GCA	p.P489A	IFI16_uc010pis.1_Missense_Mutation_p.P489A|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	489					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)					TCAGATGCCTCCATCAACACC	0.493		NA											13	159					0	0	0	0
USF1	7391	broad.mit.edu	37	1	161011934	161011934	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:161011934C>T	uc001fxi.2	-	5	443	c.248G>A	c.(247-249)GGC>GAC	p.G83D	USF1_uc001fxj.2_Missense_Mutation_p.G24D	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	83					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCAGGGTAGCCACTGATGGC	0.547		NA											7	54					0	0	0	0
PFDN2	5202	broad.mit.edu	37	1	161070553	161070553	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:161070553C>T	uc001fxu.2	-	4	435	c.385G>A	c.(385-387)GAA>AAA	p.E129K		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	129					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTCTCATCTTCTCCCATGAGA	0.493		NA											11	94					0	0	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569462	161569462	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:161569462G>A	uc001gav.2	+	8	940	c.841G>A	c.(841-843)GAA>AAA	p.E281K		NM_201563	NP_963857			Fc fragment of IgG, low affinity IIc, receptor												0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			gagacaacctgaagaaaccaa	0.199		NA											5	68					0	0	0	0
DDR2	4921	broad.mit.edu	37	1	162741855	162741855	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:162741855G>C	uc001gcf.2	+	14	2011	c.1546G>C	c.(1546-1548)GAG>CAG	p.E516Q	DDR2_uc001gcg.2_Missense_Mutation_p.E516Q	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	516	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CAGTGGCCCTGAGGGGGTGCC	0.587		NA											3	33					0	0	0	0
UCK2	7371	broad.mit.edu	37	1	165872469	165872469	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:165872469C>G	uc001gdp.2	+	5	731	c.550C>G	c.(550-552)CAG>GAG	p.Q184E	UCK2_uc010plb.1_Missense_Mutation_p.Q46E	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	184		Substrate.			pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			ovary(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GATTTTATCTCAGTACATTAC	0.408		NA											7	124					0	0	0	0
FMO2	2327	broad.mit.edu	37	1	171154965	171154965	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:171154965G>A	uc001ghk.1	+	2	230	c.113G>A	c.(112-114)GGA>GAA	p.G38E	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	38					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)					GAAGATATTGGAGGAGTGTGG	0.453		NA											14	134					0	0	0	0
RC3H1	149041	broad.mit.edu	37	1	173951999	173951999	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:173951999C>G	uc001gju.3	-	4	721	c.634G>C	c.(634-636)GAA>CAA	p.E212Q	RC3H1_uc010pms.1_Missense_Mutation_p.E212Q|RC3H1_uc001gjv.2_Missense_Mutation_p.E212Q|RC3H1_uc010pmt.1_Missense_Mutation_p.E212Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	212					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						GAACCATCTTCTAAGGCCAGC	0.403		NA											10	131					0	0	0	0
LAMC2	3918	broad.mit.edu	37	1	183209189	183209189	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:183209189G>A	uc001gqa.2	+	21	3398	c.3084G>A	c.(3082-3084)CTG>CTA	p.L1028L	LAMC2_uc001gpz.3_Silent_p.L1028L|LAMC2_uc010poa.1_Silent_p.L728L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1028	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TTGGGAGTCTGAACTTGGAAG	0.493		NA											17	122					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	186086731	186086731	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:186086731G>C	uc001grq.1	+	77	12053	c.11824G>C	c.(11824-11826)GAT>CAT	p.D3942H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3942	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TCCCAGGGGAGATGGCTATAG	0.423		NA											7	86					0	0	0	0
KIF14	9928	broad.mit.edu	37	1	200522745	200522745	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:200522745G>C	uc010ppk.1	-	30	5157	c.4718C>G	c.(4717-4719)TCT>TGT	p.S1573C	KIF14_uc010ppj.1_Missense_Mutation_p.S1082C	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1573	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						CTTAGCTAGAGATTCTAGTTC	0.398		NA											9	48					0	0	0	0
CSRP1	1465	broad.mit.edu	37	1	201465408	201465408	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:201465408C>G	uc001gws.2	-	2	215	c.24G>C	c.(22-24)AAG>AAC	p.K8N	CSRP1_uc010ppr.1_Missense_Mutation_p.K8N|CSRP1_uc010pps.1_Missense_Mutation_p.K8N	NM_004078	NP_004069	P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1 isoform 1	8						nucleus	zinc ion binding			ovary(1)	1						CCCCACATTTCTTGCCTCCTC	0.483		NA											20	116					0	0	0	0
ATP2B4	493	broad.mit.edu	37	1	203708719	203708719	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:203708719C>G	uc001gzw.2	+	21	4239	c.3355C>G	c.(3355-3357)CAG>GAG	p.Q1119E	ATP2B4_uc001gzv.2_3'UTR|ATP2B4_uc001gzx.2_Missense_Mutation_p.Q186E|ATP2B4_uc009xar.2_3'UTR	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1155	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGAAAGCATTCAGAAACCCTA	0.488		NA											16	101					0	0	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414696	213414696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:213414696C>A	uc010ptr.1	+	11	2036	c.1877C>A	c.(1876-1878)TCA>TAA	p.S626*	RPS6KC1_uc001hkd.2_Nonsense_Mutation_p.S614*|RPS6KC1_uc010pts.1_Nonsense_Mutation_p.S414*|RPS6KC1_uc010ptt.1_Nonsense_Mutation_p.S414*|RPS6KC1_uc010ptu.1_Nonsense_Mutation_p.S445*|RPS6KC1_uc010ptv.1_Nonsense_Mutation_p.S161*|RPS6KC1_uc001hke.2_Nonsense_Mutation_p.S445*	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	626					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGTCTAAAATCAGAACCTTTG	0.388		NA											4	42					2.56e-06	2.77e-06	1	0
MIA3	375056	broad.mit.edu	37	1	222803432	222803432	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:222803432C>T	uc001hnl.2	+	4	2879	c.2870C>T	c.(2869-2871)TCA>TTA	p.S957L	MIA3_uc009xea.1_Missense_Mutation_p.S793L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	957	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		GAAATGTCATCAAAACTGAAG	0.428		NA											8	58					0	0	0	0
ZP4	57829	broad.mit.edu	37	1	238045807	238045807	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:238045807G>C	uc001hym.2	-	12	1538	c.1538C>G	c.(1537-1539)TCT>TGT	p.S513C	LOC100130331_uc010pyc.1_RNA	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	513	Helical; (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAAGGTCCCAGAAAGGCCTGC	0.453		NA											15	75					0	0	0	0
OR2T12	127064	broad.mit.edu	37	1	248458752	248458752	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:248458752C>A	uc010pzj.1	-	1	129	c.129G>T	c.(127-129)ATG>ATT	p.M43I		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	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;0.0201)			TCAGGAGAATCATGAGGGCAT	0.522		NA											21	83					4.16e-05	4.45e-05	1	0
OR2M7	391196	broad.mit.edu	37	1	248486993	248486993	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr1:248486993C>T	uc010pzk.1	-	1	878	c.878G>A	c.(877-879)CGC>CAC	p.R293H		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	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)			TTCCTTGTTGCGGAGGCTATA	0.428		NA											16	43					0	0	0	0
C10orf18	54906	broad.mit.edu	37	10	5789019	5789019	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:5789019C>A	uc001iij.2	+	15	4260	c.3635C>A	c.(3634-3636)TCT>TAT	p.S1212Y	C10orf18_uc001iik.2_Missense_Mutation_p.S56Y	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1212										ovary(1)|central_nervous_system(1)	2						TCATCAGCCTCTACCACCTTG	0.473		NA											8	81					0.00621372	0.00641564	1	0
C10orf18	54906	broad.mit.edu	37	10	5789105	5789105	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:5789105C>T	uc001iij.2	+	15	4346	c.3721C>T	c.(3721-3723)CAC>TAC	p.H1241Y	C10orf18_uc001iik.2_Missense_Mutation_p.H85Y	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1241										ovary(1)|central_nervous_system(1)	2						AAGGAAGAATCACAAGAATGG	0.423		NA											8	61					0	0	0	0
ABI1	10006	broad.mit.edu	37	10	27048143	27048143	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:27048143G>A	uc001isx.2	-	9	1093	c.926C>T	c.(925-927)TCC>TTC	p.S309F	ABI1_uc001ite.2_Missense_Mutation_p.S276F|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.S282F|ABI1_uc001ita.2_Missense_Mutation_p.S282F|ABI1_uc001isz.2_Missense_Mutation_p.S277F|ABI1_uc001itb.2_Missense_Mutation_p.S326F|ABI1_uc001itc.2_Missense_Mutation_p.S281F|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Missense_Mutation_p.S281F|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Missense_Mutation_p.S148F	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	309	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						GCCATACTGGGAACCAGGAGC	0.483		NA											14	56					0	0	0	0
AGAP6	414189	broad.mit.edu	37	10	51749089	51749089	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:51749089C>G	uc001jix.3	+	2	643	c.245C>G	c.(244-246)GCC>GGC	p.A82G		NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	82					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1						AACCTTTCTGCCAATCCAGAG	0.343		NA											3	75					0	0	0	0
DDX21	9188	broad.mit.edu	37	10	70737337	70737337	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:70737337G>A	uc001jov.1	+	12	1885	c.1795G>A	c.(1795-1797)GAG>AAG	p.E599K	DDX21_uc001jow.1_Missense_Mutation_p.E531K	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	599						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						ACAATCAGCTGAGAAGCTGAT	0.507		NA											16	117					0	0	0	0
POLR3A	11128	broad.mit.edu	37	10	79742546	79742546	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:79742546G>C	uc001jzn.2	-	27	3553	c.3459C>G	c.(3457-3459)ATC>ATG	p.I1153M		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1153					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)			TGGATGTGCAGATGGAATATC	0.433		NA											7	41					0	0	0	0
LRIT2	340745	broad.mit.edu	37	10	85981835	85981835	+	Silent	SNP	G	G	A	rs140185624	byFrequency	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:85981835G>A	uc001kcy.2	-	3	1502	c.1494C>T	c.(1492-1494)CGC>CGT	p.R498R	LRIT2_uc010qmc.1_Silent_p.R508R	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	498						integral to membrane				ovary(2)	2						GAAGACAGCCGCGCAGGACCC	0.632		NA											18	65					0	0	0	0
KIF20B	9585	broad.mit.edu	37	10	91505671	91505671	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:91505671C>G	uc001kgs.1	+	23	4123	c.4051C>G	c.(4051-4053)CAG>GAG	p.Q1351E	KIF20B_uc001kgr.1_Missense_Mutation_p.Q1311E|KIF20B_uc001kgt.1_Missense_Mutation_p.Q562E|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1351					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GTTAAATAATCAGAAAGTGGA	0.264		NA											3	30					0	0	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048203	102048203	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:102048203C>G	uc001kqx.1	-	16	2751	c.2368G>C	c.(2368-2370)GAG>CAG	p.E790Q	BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Missense_Mutation_p.E743Q	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	790	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTCCTCTCCTCTAAGGCTTCC	0.488		NA											24	132					0	0	0	0
DPCD	25911	broad.mit.edu	37	10	103360965	103360965	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:103360965C>G	uc001ktn.2	+	4	281	c.276C>G	c.(274-276)ATC>ATG	p.I92M	hsa-mir-3158-1|MI0014186_5'Flank	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	92							protein binding			skin(1)	1						TGCAGCCTATCTTCATGCGCA	0.552		NA											10	72					0	0	0	0
LDB1	8861	broad.mit.edu	37	10	103871248	103871248	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:103871248G>A	uc009xwz.2	-	2	414	c.71C>T	c.(70-72)CCG>CTG	p.P24L	LDB1_uc001kuk.3_5'UTR|LDB1_uc001kul.3_5'UTR	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	24					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTTGCCGTTCGGGGGCTCCTT	0.468		NA											7	34					0	0	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116057054	116057054	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:116057054C>G	uc001lbn.2	-	17	2533	c.2232G>C	c.(2230-2232)CTG>CTC	p.L744L	AFAP1L2_uc001lbo.2_Silent_p.L744L|AFAP1L2_uc010qse.1_Silent_p.L797L|AFAP1L2_uc001lbp.2_Silent_p.L772L|AFAP1L2_uc001lbm.2_Silent_p.L183L|AFAP1L2_uc010qsd.1_Silent_p.L310L|AFAP1L2_uc001lbq.1_Silent_p.L266L	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	744	Potential.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGCCTTCTTCAGGTTGTCCT	0.627		NA											6	34					0	0	0	0
INPP5F	22876	broad.mit.edu	37	10	121556365	121556365	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:121556365G>C	uc001leo.2	+	7	974	c.808G>C	c.(808-810)GAT>CAT	p.D270H		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	270	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CACCTGTGTAGATGATATTCA	0.468		NA											4	60					0	0	0	0
C10orf137	26098	broad.mit.edu	37	10	127429586	127429586	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:127429586C>G	uc001liq.1	+	17	2480	c.2187C>G	c.(2185-2187)CTC>CTG	p.L729L	C10orf137_uc001lin.2_Silent_p.L695L|C10orf137_uc001lio.1_Silent_p.L695L|C10orf137_uc001lip.1_Silent_p.L433L|C10orf137_uc001lir.2_Silent_p.L223L|C10orf137_uc001lis.1_Silent_p.L55L	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTGCTGCCTCTGCACCAATA	0.363		NA											29	103					0	0	0	0
MGMT	4255	broad.mit.edu	37	10	131557595	131557595	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr10:131557595G>A	uc001lkh.2	+	4	523	c.497G>A	c.(496-498)AGA>AAA	p.R166K		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	135										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGAGCAATGAGAGGCAATCCT	0.577		NA						Direct_reversal_of_damage					11	46					0	0	0	0
PHRF1	57661	broad.mit.edu	37	11	609574	609574	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:609574C>G	uc001lqe.2	+	14	4249	c.4118C>G	c.(4117-4119)TCT>TGT	p.S1373C	PHRF1_uc010qwc.1_Missense_Mutation_p.S1372C|PHRF1_uc010qwd.1_Missense_Mutation_p.S1371C|PHRF1_uc010qwe.1_Missense_Mutation_p.S1369C|PHRF1_uc009ybz.1_Missense_Mutation_p.S1163C|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1373							RNA polymerase binding|zinc ion binding				0						GACAGCCCCTCTGCGAGTGGG	0.682		NA											3	13					0	0	0	0
LRDD	55367	broad.mit.edu	37	11	799973	799973	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:799973G>C	uc001lro.1	-	15	2458	c.2316C>G	c.(2314-2316)CTC>CTG	p.L772L	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.L755L|LRDD_uc001lrl.1_Silent_p.L615L|LRDD_uc001lrm.1_Silent_p.L459L|LRDD_uc001lrn.1_Silent_p.L615L|LRDD_uc001lrp.1_Missense_Mutation_p.S456C	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	772					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGCCAAGGAGAGGCCAGCCC	0.632		NA											9	42					0	0	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629200	1629200	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:1629200G>C	uc001ltw.1	-	1	494	c.416C>G	c.(415-417)TCA>TGA	p.S139*		NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	139	11 X 4 AA repeats of C-C-X-P.					keratin filament				ovary(2)	2		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCACAGCCTGAGGAGCAGCA	0.547		NA											26	156					0	0	0	0
TNNT3	7140	broad.mit.edu	37	11	1956113	1956113	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:1956113C>G	uc001luu.3	+	14	857	c.645C>G	c.(643-645)TTC>TTG	p.F215L	TNNT3_uc001lun.2_Missense_Mutation_p.F111L|TNNT3_uc001luw.3_Missense_Mutation_p.F207L|TNNT3_uc001luo.3_Missense_Mutation_p.F207L|TNNT3_uc001lup.3_Missense_Mutation_p.F213L|TNNT3_uc001luq.3_Missense_Mutation_p.F207L|TNNT3_uc001lur.2_Missense_Mutation_p.F207L|TNNT3_uc010qxf.1_Missense_Mutation_p.F213L|TNNT3_uc010qxg.1_Missense_Mutation_p.F147L	NM_006757	NP_006748	P45378	TNNT3_HUMAN	troponin T3, skeletal, fast isoform 1	226					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TTGACAAGTTCGAGTTTGGGG	0.597		NA											32	135					0	0	0	0
OR56A5	390084	broad.mit.edu	37	11	5988969	5988969	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:5988969G>C	uc010qzu.1	-	1	756	c.756C>G	c.(754-756)CTC>CTG	p.L252L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	olfactory receptor, family 56, subfamily A,	252	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	olfactory receptor activity				0						TGGTGAAGAAGAGGATGAGGA	0.478		NA											5	20					0	0	0	0
OR6A2	8590	broad.mit.edu	37	11	6816674	6816674	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:6816674G>A	uc001mes.1	-	1	466	c.266C>T	c.(265-267)TCC>TTC	p.S89F		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATCCTGTTTGGATCCAACAAA	0.458		NA											12	62					0	0	0	0
HIPK3	10114	broad.mit.edu	37	11	33363124	33363124	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:33363124G>A	uc001mul.1	+	8	2059	c.1789G>A	c.(1789-1791)GCT>ACT	p.A597T	HIPK3_uc001mum.1_Missense_Mutation_p.A597T|HIPK3_uc009yjv.1_Missense_Mutation_p.A597T	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	597					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						GACCACATCTGCTCATTCAGT	0.413		NA											39	318					0	0	0	0
PDHX	8050	broad.mit.edu	37	11	34982054	34982054	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:34982054A>G	uc001mvt.2	+	5	1156	c.630A>G	c.(628-630)ATA>ATG	p.I210M	PDHX_uc010rep.1_Missense_Mutation_p.I195M|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	210	Interaction with DLD.			I->A: Strongly decreased DLD binding.	pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTCGGGGGATATTCACTAAAG	0.378		NA											8	125					0	0	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250750	36250750	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:36250750G>C	uc001mwk.1	+	6	878	c.841G>C	c.(841-843)GAC>CAC	p.D281H	LDLRAD3_uc010rey.1_Missense_Mutation_p.D232H|LDLRAD3_uc010rez.1_Missense_Mutation_p.D160H|LDLRAD3_uc010rfa.1_RNA	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	281	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTACTCTTCTGACACGGAATC	0.627		NA											21	867					0	0	0	0
COMMD9	29099	broad.mit.edu	37	11	36300091	36300091	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:36300091G>A	uc001mwn.3	-	3	290	c.253C>T	c.(253-255)CTC>TTC	p.L85F	COMMD9_uc009ykj.2_Missense_Mutation_p.L43F|COMMD9_uc010rfb.1_Missense_Mutation_p.L85F	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	COMM domain containing 9 isoform 1	85										ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				TCTGGAAAGAGAGCCAGAATT	0.483		NA											11	350					0	0	0	0
KIAA0652	9776	broad.mit.edu	37	11	46687010	46687010	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:46687010G>C	uc009yld.2	+	13	1662	c.978G>C	c.(976-978)GAG>GAC	p.E326D	KIAA0652_uc001nda.2_Missense_Mutation_p.E359D|KIAA0652_uc001ndb.2_Missense_Mutation_p.E326D|KIAA0652_uc001ncz.2_Missense_Mutation_p.E289D|KIAA0652_uc001ndc.2_Missense_Mutation_p.E289D|KIAA0652_uc010rgv.1_Missense_Mutation_p.E210D	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	326					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		CTGACCAGGAGAGACTGGCAA	0.562		NA											9	64					0	0	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47189775	47189775	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:47189775C>G	uc001ndt.2	-	11	984	c.969G>C	c.(967-969)GAG>GAC	p.E323D	ARFGAP2_uc010rha.1_Missense_Mutation_p.E54D|ARFGAP2_uc010rhb.1_Missense_Mutation_p.E295D|ARFGAP2_uc001ndu.2_Missense_Mutation_p.E187D|ARFGAP2_uc010rhc.1_Missense_Mutation_p.E54D	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating	323	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			ovary(1)	1						TCACCTGCATCTCAGACAGCA	0.552		NA											8	55					0	0	0	0
MADD	8567	broad.mit.edu	37	11	47295502	47295502	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:47295502G>C	uc001ner.1	+	2	228	c.37G>C	c.(37-39)GAC>CAC	p.D13H	MADD_uc001neq.2_Missense_Mutation_p.D13H|MADD_uc001nev.1_Missense_Mutation_p.D13H|MADD_uc001nes.1_Missense_Mutation_p.D13H|MADD_uc001net.1_Missense_Mutation_p.D13H|MADD_uc009yln.1_Missense_Mutation_p.D13H|MADD_uc001neu.1_Missense_Mutation_p.D13H|MADD_uc001nex.2_Missense_Mutation_p.D13H|MADD_uc001nez.2_Missense_Mutation_p.D13H|MADD_uc001new.2_Missense_Mutation_p.D13H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	13					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TCGGTTACTTGACTATCTAGT	0.443		NA											8	37					0	0	0	0
OR8K5	219453	broad.mit.edu	37	11	55927105	55927105	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:55927105G>A	uc010rja.1	-	1	689	c.689C>T	c.(688-690)TCT>TTT	p.S230F		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GCCCTCTGCAGAATGCATTTG	0.398		NA											8	40					0	0	0	0
LRRC55	219527	broad.mit.edu	37	11	56954823	56954823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:56954823G>A	uc001njl.1	+	2	1042	c.895G>A	c.(895-897)GAT>AAT	p.D299N	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	269						integral to membrane					0						CCTGACCCTGGATGATTACCT	0.607		NA											9	77					0	0	0	0
FAM111A	63901	broad.mit.edu	37	11	58920371	58920371	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:58920371G>A	uc010rkp.1	+	5	1457	c.1230G>A	c.(1228-1230)GTG>GTA	p.V410V	FAM111A_uc010rkq.1_Silent_p.V410V|FAM111A_uc010rkr.1_Silent_p.V410V|FAM111A_uc001nno.2_Silent_p.V410V|FAM111A_uc001nnp.2_Silent_p.V410V|FAM111A_uc001nnq.2_Silent_p.V410V	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	410					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				GTGTAAGGGTGACATTTGGTT	0.383		NA											14	80					0	0	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810464	65810464	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:65810464G>A	uc001ogv.2	-	2	970	c.810C>T	c.(808-810)CGC>CGT	p.R270R	GAL3ST3_uc001ogw.2_Silent_p.R270R	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	270	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						AGCTGGCGGCGCGCGCGTTGA	0.577		NA											4	17					0	0	0	0
RIN1	9610	broad.mit.edu	37	11	66102285	66102285	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:66102285C>A	uc001ohn.1	-	6	1112	c.985G>T	c.(985-987)GGG>TGG	p.G329W	RIN1_uc010roy.1_Missense_Mutation_p.G22W|RIN1_uc009yrd.1_Missense_Mutation_p.G22W|RIN1_uc010roz.1_Missense_Mutation_p.G224W|RIN1_uc010rpa.1_Missense_Mutation_p.G224W	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	329	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CCCCGGGACCCTGGCACCCCC	0.721		NA											2	2					0.0016	0.00166925	1	0
CARNS1	57571	broad.mit.edu	37	11	67191490	67191490	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:67191490G>C	uc009yrp.2	+	9	2354	c.1902G>C	c.(1900-1902)CTG>CTC	p.L634L	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Silent_p.L773L	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	634	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0						CTACGAGGCTGCCTGGCTTCA	0.642		NA											5	20					0	0	0	0
PPFIA1	8500	broad.mit.edu	37	11	70218613	70218613	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:70218613G>C	uc001opo.2	+	23	3270	c.3072G>C	c.(3070-3072)CTG>CTC	p.L1024L	PPFIA1_uc001opn.1_Silent_p.L1024L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Silent_p.L163L|PPFIA1_uc001ops.2_Silent_p.L63L	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	1024	Potential.|SAM 2.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTATGTGCCTGAGAAGGTTAA	0.328		NA											7	45					0	0	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73074301	73074301	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:73074301G>C	uc001otu.2	+	15	5068	c.5047G>C	c.(5047-5049)GAG>CAG	p.E1683Q		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1683					actin cytoskeleton organization|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				0						CACCAGCTCAGAGGAGGAGCA	0.637		NA											3	14					0	0	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73074384	73074384	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:73074384G>C	uc001otu.2	+	15	5151	c.5130G>C	c.(5128-5130)GGG>GGC	p.G1710G		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1710					actin cytoskeleton organization|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				0						CAATGGATGGGAGAGCCCTTC	0.667		NA											3	14					0	0	0	0
FDX1	2230	broad.mit.edu	37	11	110327657	110327657	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:110327657C>G	uc001pkx.2	+	3	577	c.326C>G	c.(325-327)ACC>AGC	p.T109S		NM_004109	NP_004100	P10109	ADX_HUMAN	ferredoxin 1 precursor	109	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding				0		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGTGAGGGAACCCTGGCTTGT	0.418		NA											27	144					0	0	0	0
DIXDC1	85458	broad.mit.edu	37	11	111844775	111844775	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:111844775C>T	uc001pml.2	+	4	642	c.345C>T	c.(343-345)ATC>ATT	p.I115I	DIXDC1_uc001pmj.2_Silent_p.I108I|DIXDC1_uc001pmk.2_Silent_p.I115I	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	115	CH.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TGAAGTCTATCATGAGGCTGG	0.512		NA											8	37					0	0	0	0
DIXDC1	85458	broad.mit.edu	37	11	111889689	111889689	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:111889689G>A	uc001pml.2	+	21	2278	c.1981G>A	c.(1981-1983)GAT>AAT	p.D661N	DIXDC1_uc001pmm.2_Missense_Mutation_p.D450N|DIXDC1_uc001pmn.2_Missense_Mutation_p.D367N|DIXDC1_uc010rwq.1_Missense_Mutation_p.D326N	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	661	DIX.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATTTTCCATGATGATGATGC	0.388		NA											10	77					0	0	0	0
BSX	390259	broad.mit.edu	37	11	122848536	122848536	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:122848536C>T	uc010rzs.1	-	3	523	c.523G>A	c.(523-525)GAA>AAA	p.E175K		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	175											0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCTTTGGGTTCGTCTTGGCTT	0.592		NA											14	47					0	0	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781747	128781747	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr11:128781747C>G	uc001qet.2	+	2	893	c.579C>G	c.(577-579)CCC>CCG	p.P193P	KCNJ5_uc009zck.2_Silent_p.P193P|KCNJ5_uc001qew.2_Silent_p.P193P	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	193	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TCAGCCAGCCCAAGAAGAGAG	0.562		NA											14	97					0	0	0	0
KCNA6	3742	broad.mit.edu	37	12	4919508	4919508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:4919508C>T	uc001qng.2	+	1	1167	c.301C>T	c.(301-303)CAG>TAG	p.Q101*		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	101						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						CTACTACTACCAGTCTGGGGG	0.657		NA								HNSCC(72;0.22)			17	69					0	0	0	0
SPSB2	84727	broad.mit.edu	37	12	6980429	6980429	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:6980429C>T	uc001qrl.2	-	3	875	c.719G>A	c.(718-720)GGG>GAG	p.G240E	SPSB2_uc001qrm.2_Missense_Mutation_p.G240E|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	240	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1						CCGGGTATCCCCCAGGTTGTG	0.627		NA											6	25					0	0	0	0
LRP6	4040	broad.mit.edu	37	12	12274061	12274061	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:12274061C>G	uc001rah.3	-	23	4983	c.4841G>C	c.(4840-4842)TGA>TCA	p.*1614S	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonstop_Mutation_p.*1569S	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	1614					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				GGCCCCTCCTCAGGAGGAGTC	0.517		NA											5	24					0	0	0	0
ATF7IP	55729	broad.mit.edu	37	12	14589102	14589102	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:14589102C>T	uc001rbw.2	+	4	1866	c.1708C>T	c.(1708-1710)CGT>TGT	p.R570C	ATF7IP_uc010shs.1_Missense_Mutation_p.R569C|ATF7IP_uc001rbu.2_Missense_Mutation_p.R570C|ATF7IP_uc001rbv.1_Missense_Mutation_p.R569C|ATF7IP_uc001rbx.2_Missense_Mutation_p.R569C|ATF7IP_uc010sht.1_Missense_Mutation_p.R570C|ATF7IP_uc001rby.3_Missense_Mutation_p.R570C|ATF7IP_uc001rca.2_Missense_Mutation_p.R570C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	570	Interaction with SETDB1.|Glu-rich.|Nuclear localization signal (By similarity).				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						GTCTAAACGTCGTCGATATAT	0.353		NA											24	67					0	0	0	0
WNT1	7471	broad.mit.edu	37	12	49373291	49373291	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49373291G>A	uc001rsu.2	+	2	343	c.145G>A	c.(145-147)GAC>AAC	p.D49N		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	49					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)		CCTGCTTACAGACTCCAAGAG	0.557		NA											19	101					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49436420	49436420	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49436420G>T	uc001rta.3	-	27	5791	c.5791C>A	c.(5791-5793)CCT>ACT	p.P1931T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1931					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTGCCCAAAGGGAGTCCACCT	0.552		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			21	38					4.97e-08	5.41e-08	1	0
RHEBL1	121268	broad.mit.edu	37	12	49462888	49462888	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49462888C>T	uc001rtc.1	-	2	261	c.54G>A	c.(52-54)GGG>GGA	p.G18G	RHEBL1_uc001rtd.1_Silent_p.G14G|RHEBL1_uc009zlc.1_RNA	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1 precursor	18	GTP (By similarity).				positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			lung(1)|breast(1)	2						AAGATGTCTTCCCTGTGGGGA	0.502		NA											26	69					0	0	0	0
KCNH3	23416	broad.mit.edu	37	12	49943272	49943272	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:49943272G>A	uc001ruh.1	+	9	1777	c.1517G>A	c.(1516-1518)CGC>CAC	p.R506H	KCNH3_uc010smj.1_Missense_Mutation_p.R446H	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	506	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						ATCATCCAGCGCATGTACGCC	0.667		NA											10	49					0	0	0	0
DIP2B	57609	broad.mit.edu	37	12	51138607	51138607	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:51138607G>A	uc001rwv.2	+	38	4872	c.4716G>A	c.(4714-4716)GTG>GTA	p.V1572V	DIP2B_uc009zlt.2_Silent_p.V1002V	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	1572						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						CCATCTACGTGGCTTATAACA	0.517		NA											20	62					0	0	0	0
NR4A1	3164	broad.mit.edu	37	12	52448880	52448880	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:52448880G>C	uc001rzs.2	+	3	1082	c.768G>C	c.(766-768)CGG>CGC	p.R256R	NR4A1_uc010sno.1_Silent_p.R269R|NR4A1_uc001rzr.2_Silent_p.R256R|NR4A1_uc009zmb.1_Silent_p.R256R|NR4A1_uc001rzt.2_Silent_p.R256R|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	256					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCAAGGCCCGGAGCGGGGCCC	0.612		NA											13	117					0	0	0	0
AAAS	8086	broad.mit.edu	37	12	53709522	53709522	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:53709522G>C	uc001scr.3	-	3	459	c.296C>G	c.(295-297)TCA>TGA	p.S99*	AAAS_uc001scs.3_Nonsense_Mutation_p.S99*	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	99					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						CTCTTCTTCTGAGTTTGCAAT	0.483		NA											9	16					0	0	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876597	53876597	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:53876597C>T	uc001sdm.1	-	12	1989	c.1891G>A	c.(1891-1893)GAT>AAT	p.D631N	MAP3K12_uc001sdn.1_Missense_Mutation_p.D664N	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	631					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						GAGCCAGGATCCCCAGCTCCG	0.667		NA											16	41					0	0	0	0
MYL6B	140465	broad.mit.edu	37	12	56547847	56547847	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56547847G>A	uc001sjs.2	+	2	272	c.145G>A	c.(145-147)GAG>AAG	p.E49K	MYL6B_uc009zoo.2_Missense_Mutation_p.E49K|MYL6B_uc001sjt.2_Missense_Mutation_p.E49K|MYL6B_uc001sju.1_Missense_Mutation_p.E49K	NM_002475	NP_002466	P14649	MYL6B_HUMAN	smooth muscle and non-muscle myosin alkali light	49					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle				0			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAAAACCCAGGAGCCTCCAGT	0.572		NA											3	28					0	0	0	0
MYL6B	140465	broad.mit.edu	37	12	56548600	56548600	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56548600G>A	uc001sjs.2	+	3	305	c.178G>A	c.(178-180)GAG>AAG	p.E60K	MYL6B_uc009zoo.2_Missense_Mutation_p.E60K|MYL6B_uc001sjt.2_Missense_Mutation_p.E60K|MYL6B_uc001sju.1_Missense_Mutation_p.E60K	NM_002475	NP_002466	P14649	MYL6B_HUMAN	smooth muscle and non-muscle myosin alkali light	60					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle				0			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TCCACAGATCGAGTTTAACAA	0.532		NA											29	198					0	0	0	0
MYL6B	140465	broad.mit.edu	37	12	56548975	56548975	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56548975G>A	uc001sjs.2	+	4	466	c.339G>A	c.(337-339)AAG>AAA	p.K113K	MYL6B_uc009zoo.2_Silent_p.K113K|MYL6B_uc001sjt.2_Silent_p.K113K|MYL6B_uc001sju.1_Silent_p.K113K	NM_002475	NP_002466	P14649	MYL6B_HUMAN	smooth muscle and non-muscle myosin alkali light	113					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle				0			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAACCCCAAGAGTGATGGTG	0.522		NA											23	116					0	0	0	0
TIMELESS	8914	broad.mit.edu	37	12	56818549	56818549	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:56818549G>A	uc001slf.2	-	15	2033	c.1865C>T	c.(1864-1866)GCT>GTT	p.A622V		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	622					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						TTCTTACCGAGCAGACCTCAG	0.587		NA											5	85					0	0	0	0
TSPAN31	6302	broad.mit.edu	37	12	58140808	58140808	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:58140808A>G	uc001spt.2	+	5	606	c.452A>G	c.(451-453)AAG>AGG	p.K151R	TSPAN31_uc009zqb.2_Missense_Mutation_p.K67R|TSPAN31_uc010ssa.1_Missense_Mutation_p.K73R	NM_005981	NP_005972	Q12999	TSN31_HUMAN	sarcoma amplified sequence	151	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction					0	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGATCTGCAAGAGCCAGAGC	0.423		NA											4	164					0	0	0	0
TMTC2	160335	broad.mit.edu	37	12	83455572	83455572	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:83455572G>C	uc001szt.2	+	11	2725	c.2293G>C	c.(2293-2295)GAG>CAG	p.E765Q	TMTC2_uc010suk.1_Missense_Mutation_p.E520Q	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	765	TPR 9.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						TGAAGCAGCTGAGAAGTATTA	0.353		NA											13	73					0	0	0	0
APAF1	317	broad.mit.edu	37	12	99093306	99093306	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr12:99093306G>A	uc001tfz.2	+	17	3002	c.2425G>A	c.(2425-2427)GAT>AAT	p.D809N	APAF1_uc001tfy.2_Missense_Mutation_p.D798N|APAF1_uc001tga.2_Missense_Mutation_p.D798N|APAF1_uc001tgb.2_Missense_Mutation_p.D809N|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.D218N	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	809	WD 5.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	GTGGTCTGCTGATGGTGCAAG	0.358		NA											10	49					0	0	0	0
EFHA1	221154	broad.mit.edu	37	13	22113514	22113514	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:22113514G>A	uc001uof.2	-	4	415	c.393C>T	c.(391-393)GAC>GAT	p.D131D		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	131							calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TATCCTCGATGTCCTTTGAAT	0.254		NA											16	22					0	0	0	0
SACS	26278	broad.mit.edu	37	13	23913992	23913992	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:23913992G>C	uc001uon.2	-	10	4612	c.4023C>G	c.(4021-4023)CTC>CTG	p.L1341L	SACS_uc001uoo.2_Silent_p.L1194L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1341					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)		GGTCACTTTTGAGATATATCT	0.358		NA											12	40					0	0	0	0
FLT1	2321	broad.mit.edu	37	13	28913326	28913326	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:28913326C>A	uc001usb.3	-	17	2752	c.2467G>T	c.(2467-2469)GCC>TCC	p.A823S	FLT1_uc001usa.3_Missense_Mutation_p.A41S	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	823	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCTCCCGGGCAAACTCCCAC	0.313		NA											4	54					0.000602214	0.000632054	1	0
KIAA0564	23078	broad.mit.edu	37	13	42352181	42352181	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:42352181C>T	uc001uyj.2	-	20	2359	c.2289G>A	c.(2287-2289)GTG>GTA	p.V763V	KIAA0564_uc001uyk.2_Silent_p.V763V	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	763						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TATCTTCCATCACTATCACAT	0.323		NA											14	128					0	0	0	0
LRCH1	23143	broad.mit.edu	37	13	47303005	47303005	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:47303005C>T	uc001vbj.2	+	17	2024	c.1788C>T	c.(1786-1788)GTC>GTT	p.V596V	LRCH1_uc001vbk.2_Silent_p.V631V|LRCH1_uc001vbl.3_Silent_p.V596V	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	596	CH.									ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GATTGAAGGTCAGTCTACACG	0.488		NA											18	117					0	0	0	0
OLFM4	10562	broad.mit.edu	37	13	53603067	53603067	+	Silent	SNP	C	C	G	rs140749392		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr13:53603067C>G	uc001vhl.2	+	1	96	c.96C>G	c.(94-96)CCC>CCG	p.P32P	OLFM4_uc001vhk.1_Silent_p.P32P	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	32	Ser-rich.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCCCAGCCCCGGCTTCAGCT	0.418		NA											9	165					0	0	0	0
HECTD1	25831	broad.mit.edu	37	14	31637671	31637671	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:31637671C>G	uc001wrc.1	-	10	1944	c.1455G>C	c.(1453-1455)TGG>TGC	p.W485C	HECTD1_uc001wrd.1_5'UTR	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	485	ANK 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGGACACATCCAATCACCTA	0.308		NA											19	145					0	0	0	0
PNN	5411	broad.mit.edu	37	14	39650613	39650613	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:39650613G>C	uc001wuw.3	+	9	1797	c.1700G>C	c.(1699-1701)AGA>ACA	p.R567T		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	567	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGTCGAGCTAGAAATAAAACA	0.254		NA											4	52					0	0	0	0
SAV1	60485	broad.mit.edu	37	14	51102087	51102087	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:51102087C>T	uc001wyg.1	-	6	1127	c.966G>A	c.(964-966)CTG>CTA	p.L322L	SAV1_uc001wyh.1_Silent_p.L322L	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	322	SARAH.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTTCCCACTTCAGAATGTGGT	0.343		NA											11	30					0	0	0	0
PPM1A	5494	broad.mit.edu	37	14	60749451	60749451	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:60749451G>A	uc010apn.2	+	3	432	c.30G>A	c.(28-30)ATG>ATA	p.M10I	PPM1A_uc001xew.3_Missense_Mutation_p.M83I|PPM1A_uc001xex.3_Missense_Mutation_p.M10I|PPM1A_uc001xey.3_Missense_Mutation_p.M10I	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	10					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AGCCAAAGATGGAAAAGCATA	0.443		NA											15	164					0	0	0	0
PRKCH	5583	broad.mit.edu	37	14	61952289	61952289	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:61952289C>T	uc001xfn.2	+	10	1653	c.1348C>T	c.(1348-1350)CGT>TGT	p.R450C	PRKCH_uc010tsa.1_Missense_Mutation_p.R289C|PRKCH_uc010tsb.1_Missense_Mutation_p.R18C	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	450	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GAAGTCTCGTCGTTTTGATGA	0.443		NA											37	273					0	0	0	0
FCF1	51077	broad.mit.edu	37	14	75200790	75200790	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:75200790C>T	uc001xqh.2	+	7	516	c.465C>T	c.(463-465)TAC>TAT	p.Y155Y	FCF1_uc001xqf.1_Silent_p.Y140Y|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN	FCF1 small subunit	155	PINc.				rRNA processing	nucleolus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0037)		ATAAGTGTTACATTGTGGCCA	0.443		NA											10	41					0	0	0	0
OTUB2	78990	broad.mit.edu	37	14	94511037	94511037	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:94511037C>G	uc001yci.2	+	5	569	c.409C>G	c.(409-411)CTG>GTG	p.L137V		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	137	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GTTCCTGCGCCTGCTCACGTC	0.552		NA											3	35					0	0	0	0
EML1	2009	broad.mit.edu	37	14	100363569	100363569	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr14:100363569G>A	uc001ygs.2	+	7	834	c.765G>A	c.(763-765)GTG>GTA	p.V255V	EML1_uc010avt.1_Silent_p.V242V|EML1_uc010tww.1_Silent_p.V243V|EML1_uc001ygq.2_Silent_p.V274V|EML1_uc001ygr.2_Silent_p.V274V	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	255						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTGGTGGTGTTATACAACG	0.483		NA											9	57					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	33955886	33955886	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:33955886C>T	uc001zhi.2	+	36	5637	c.5567C>T	c.(5566-5568)GCG>GTG	p.A1856V	RYR3_uc010bar.2_Missense_Mutation_p.A1856V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1856	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACATGTCTGCGGCCCTGACT	0.552		NA											3	15					0	0	0	0
PAK6	56924	broad.mit.edu	37	15	40565875	40565875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:40565875G>T	uc010bbl.2	+	9	2181	c.1741G>T	c.(1741-1743)GAG>TAG	p.E581*	PAK6_uc010bbm.2_Nonsense_Mutation_p.E581*|PAK6_uc001zky.3_Nonsense_Mutation_p.E581*|PAK6_uc010bbn.2_Nonsense_Mutation_p.E581*|PAK6_uc001zlb.2_Nonsense_Mutation_p.E581*	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	581	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GTATGCCACTGAGGTAACCGT	0.572		NA											7	43					8.13e-05	8.62e-05	1	0
PLCB2	5330	broad.mit.edu	37	15	40582261	40582261	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:40582261A>G	uc001zld.2	-	30	3533	c.3232T>C	c.(3232-3234)TCC>CCC	p.S1078P	PLCB2_uc001zlc.2_Missense_Mutation_p.S62P|PLCB2_uc010bbo.2_Missense_Mutation_p.S1074P|PLCB2_uc010ucm.1_Missense_Mutation_p.S1063P	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1078	Potential.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGATGTGGGAGTTGTTAATC	0.373		NA											4	101					0	0	0	0
INO80	54617	broad.mit.edu	37	15	41387980	41387980	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41387980G>A	uc001zni.2	-	3	503	c.290C>T	c.(289-291)TCT>TTT	p.S97F	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	97	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TCCATTCAGAGAATATGTGTT	0.418		NA											6	73					0	0	0	0
OIP5	11339	broad.mit.edu	37	15	41624610	41624610	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41624610G>C	uc001znp.2	-	1	210	c.150C>G	c.(148-150)CTC>CTG	p.L50L	NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank	NM_007280	NP_009211	O43482	MS18B_HUMAN	Opa interacting protein 5	50					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTGCGGGGCCGAGCGGCGAGG	0.662		NA											13	58					0	0	0	0
LTK	4058	broad.mit.edu	37	15	41804373	41804373	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:41804373G>C	uc001zoa.3	-	4	628	c.450C>G	c.(448-450)CTC>CTG	p.L150L	LTK_uc001zob.3_Silent_p.L150L|LTK_uc010ucx.1_Silent_p.L150L|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	150	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCCCGAGACCGAGGGAGAAGA	0.602		NA								TSP Lung(18;0.14)			3	29					0	0	0	0
PYGO1	26108	broad.mit.edu	37	15	55838571	55838571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:55838571G>A	uc010bfl.1	-	3	966	c.910C>T	c.(910-912)CAG>TAG	p.Q304*	PYGO1_uc002adf.1_Nonsense_Mutation_p.Q304*	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	304	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGCTTATTCTGCGTCCCATTT	0.433		NA											49	323					0	0	0	0
TLN2	83660	broad.mit.edu	37	15	62993361	62993361	+	Silent	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:62993361T>C	uc002alb.3	+	14	1644	c.1644T>C	c.(1642-1644)TCT>TCC	p.S548S		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	548					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						AAATCCATTCTCAAGTTGATG	0.468		NA											7	78					0	0	0	0
RASL12	51285	broad.mit.edu	37	15	65350896	65350896	+	Silent	SNP	G	G	A	rs147666289		TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:65350896G>A	uc002aoi.1	-	4	509	c.294C>T	c.(292-294)TAC>TAT	p.Y98Y	RASL12_uc002aoj.1_Silent_p.Y79Y|RASL12_uc010uir.1_Silent_p.Y87Y	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	98					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1						TGTCGACGCTGTACACCACCA	0.652		NA											10	43					0	0	0	0
EDC3	80153	broad.mit.edu	37	15	74967310	74967310	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:74967310G>A	uc002ayn.2	-	5	644	c.156C>T	c.(154-156)GTC>GTT	p.V52V	EDC3_uc002ayo.2_Silent_p.V52V|EDC3_uc002aym.2_Silent_p.V52V	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	52	Required for P-body targeting and interaction with DCP1A (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1						ACCTGAAGGTGACTTCTGGAA	0.498		NA											29	176					0	0	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181841	81181841	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:81181841G>C	uc002bfw.1	+	9	1254	c.994G>C	c.(994-996)GAT>CAT	p.D332H	KIAA1199_uc010unn.1_Missense_Mutation_p.D332H	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	332										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GTTCGATCATGATAAAGTATC	0.463		NA											3	87					0	0	0	0
MEX3B	84206	broad.mit.edu	37	15	82336881	82336881	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:82336881G>C	uc002bgq.1	-	2	645	c.330C>G	c.(328-330)GTC>GTG	p.V110V		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	110	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						TCACAACAAAGACAGGCTCCT	0.577		NA											11	51					0	0	0	0
CPEB1	64506	broad.mit.edu	37	15	83226644	83226644	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:83226644C>G	uc002bit.2	-	4	789	c.652G>C	c.(652-654)GAC>CAC	p.D218H	CPEB1_uc002biq.2_Missense_Mutation_p.D83H|CPEB1_uc002bir.2_Missense_Mutation_p.D83H|CPEB1_uc002bis.2_Missense_Mutation_p.D83H|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.D161H|CPEB1_uc002biu.2_Missense_Mutation_p.D185H|CPEB1_uc010uof.1_Missense_Mutation_p.D83H|CPEB1_uc002biv.2_Missense_Mutation_p.D158H|CPEB1_uc002bip.2_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	158					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAACTTGTCCACCAAGTCA	0.567		NA											9	87					0	0	0	0
ABHD2	11057	broad.mit.edu	37	15	89738457	89738457	+	Splice_Site	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:89738457G>C	uc002bnj.2	+	16	1999	c.1082_splice	c.e16-1	p.E361_splice	ABHD2_uc002bnk.2_Splice_Site_p.E361_splice	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein							integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCCCCTGCAGAGAAACGAGA	0.582		NA											19	81					0	0	0	0
PLIN1	5346	broad.mit.edu	37	15	90210983	90210983	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr15:90210983C>T	uc010upx.1	-	7	923	c.813G>A	c.(811-813)GCG>GCA	p.A271A	PLIN1_uc002boh.2_Silent_p.A271A	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN	perilipin 1	271					triglyceride catabolic process	lipid particle	lipid binding			central_nervous_system(1)|skin(1)	2						GCCGGGACACCGCCTGCATGG	0.552		NA											3	6					0	0	0	0
ITFG3	83986	broad.mit.edu	37	16	313748	313748	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:313748G>C	uc002cgf.2	+	10	1357	c.1162G>C	c.(1162-1164)GAA>CAA	p.E388Q	ITFG3_uc002cgg.2_Missense_Mutation_p.E388Q|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.E388Q	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	388	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGTAGCCGTTGAAAACGGAAC	0.537		NA											12	58					0	0	0	0
IFT140	9742	broad.mit.edu	37	16	1621494	1621494	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:1621494C>T	uc002cmb.2	-	14	1928	c.1566G>A	c.(1564-1566)GGG>GGA	p.G522G	IFT140_uc002clz.2_Silent_p.G173G	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	522										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				AGCAGGGATTCCCCTCAGTCT	0.413		NA											3	43					0	0	0	0
RNF151	146310	broad.mit.edu	37	16	2017315	2017315	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:2017315A>G	uc002cnt.1	+	2	52	c.44A>G	c.(43-45)GAC>GGC	p.D15G	RPS2_uc010bsa.1_5'Flank|RPS2_uc002cnl.2_5'Flank|RPS2_uc002cnm.2_5'Flank|RPS2_uc002cnn.2_5'Flank|RPS2_uc002cno.2_5'Flank	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	ring finger protein 151	15					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding				0						AGCCCTCCTGACAGCAACTTC	0.582		NA											8	50					0	0	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126188	19126188	+	Silent	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:19126188C>A	uc002dfu.3	+	1	935	c.405C>A	c.(403-405)CGC>CGA	p.R135R	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	135	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						GGGCTGGCCGCGCCCGGGGGT	0.667		NA											3	6					6.4e-05	6.84e-05	1	0
ANKS4B	257629	broad.mit.edu	37	16	21261527	21261527	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261527G>C	uc010bwp.1	+	2	683	c.640G>C	c.(640-642)GAT>CAT	p.D214H	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	214										ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		GAAGAACAAAGATACAGCAGA	0.478		NA											8	72					0	0	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261721	21261721	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261721G>T	uc010bwp.1	+	2	877	c.834G>T	c.(832-834)AGG>AGT	p.R278S	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	278										ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		TTTTTAGAAGGAACAGGATAT	0.453		NA											8	81					1.26e-09	1.38e-09	1	0
ANKS4B	257629	broad.mit.edu	37	16	21261982	21261982	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261982G>T	uc010bwp.1	+	2	1138	c.1095G>T	c.(1093-1095)AAG>AAT	p.K365N	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	365	SAM.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		CTATCTTCAAGAGAGAGCAGA	0.502		NA											9	69					0.000274275	0.000289168	1	0
ANKS4B	257629	broad.mit.edu	37	16	21261991	21261991	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21261991G>T	uc010bwp.1	+	2	1147	c.1104G>T	c.(1102-1104)CAG>CAT	p.Q368H	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	368	SAM.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		AGAGAGAGCAGATTGATCTAG	0.502		NA											11	78					0.000673444	0.000705753	1	0
METTL9	51108	broad.mit.edu	37	16	21624068	21624068	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:21624068G>A	uc002dje.2	+	2	467	c.268G>A	c.(268-270)GAG>AAG	p.E90K	uc002diq.3_Intron|METTL9_uc002djf.2_Missense_Mutation_p.E90K	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	90										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)		CAACAGCATTGAGAAATCGGG	0.373		NA											6	73					0	0	0	0
BCL7C	9274	broad.mit.edu	37	16	30904177	30904177	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:30904177G>A	uc002dzv.2	-	3	398	c.264C>T	c.(262-264)ATC>ATT	p.I88I	BCL7C_uc002dzt.1_Silent_p.I88I|uc002dzu.2_Intron|MIR762_hsa-mir-762|MI0003892_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	88					apoptosis						0			Colorectal(24;0.198)			GATCCAGCAGGATGAGAGGGC	0.662		NA											18	105					0	0	0	0
PRSS53	339105	broad.mit.edu	37	16	31095655	31095655	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:31095655C>T	uc002eaq.2	-	10	1427	c.1427G>A	c.(1426-1428)GGC>GAC	p.G476D	PRSS53_uc002ear.2_Missense_Mutation_p.G270D	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	476	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity				0						CCCAGACAGGCCCTGTCAGGG	0.632		NA											3	32					0	0	0	0
CCDC102A	92922	broad.mit.edu	37	16	57555060	57555060	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:57555060C>T	uc002elw.2	-	4	1054	c.841G>A	c.(841-843)GAG>AAG	p.E281K		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	281	Potential.									ovary(1)	1						TCTAGCTTCTCAATGTTCCTG	0.572		NA											8	73					0	0	0	0
CCDC135	84229	broad.mit.edu	37	16	57741450	57741450	+	Missense_Mutation	SNP	G	G	A	rs116219187	by1000genomes	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:57741450G>A	uc002emi.2	+	7	1026	c.937G>A	c.(937-939)GAG>AAG	p.E313K	CCDC135_uc002emj.2_Missense_Mutation_p.E313K|CCDC135_uc002emk.2_Missense_Mutation_p.E248K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	313						cytoplasm				central_nervous_system(1)	1						GGGGAAGCGCGAGGTGCCTGA	0.587		NA											4	35					0	0	0	0
KCTD19	146212	broad.mit.edu	37	16	67328549	67328549	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:67328549G>C	uc002esu.2	-	11	1575	c.1524C>G	c.(1522-1524)ATC>ATG	p.I508M	KCTD19_uc002est.2_Missense_Mutation_p.I280M|KCTD19_uc010vjj.1_Missense_Mutation_p.I251M	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	508						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)		GCAGCCTCCTGATGGAAAAAG	0.488		NA											3	128					0	0	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985892	67985892	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:67985892G>C	uc002euz.2	-	8	1107	c.966C>G	c.(964-966)ATC>ATG	p.I322M	SLC12A4_uc010ceu.2_Missense_Mutation_p.I316M|SLC12A4_uc010vkh.1_Missense_Mutation_p.I291M|SLC12A4_uc010vki.1_Missense_Mutation_p.I322M|SLC12A4_uc010vkj.1_Missense_Mutation_p.I324M|SLC12A4_uc002eva.2_Missense_Mutation_p.I322M|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	322					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTTGGCACAGATGTCAAACT	0.587		NA											4	28					0	0	0	0
KIAA0174	9798	broad.mit.edu	37	16	71961649	71961649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:71961649C>G	uc002fbj.1	+	12	1356	c.1073C>G	c.(1072-1074)TCA>TGA	p.S358*	KIAA0174_uc010cgh.1_Nonsense_Mutation_p.S358*|KIAA0174_uc002fbk.1_Missense_Mutation_p.Q344E|KIAA0174_uc002fbm.1_Nonsense_Mutation_p.S345*|KIAA0174_uc002fbl.1_Nonsense_Mutation_p.S314*|KIAA0174_uc002fbn.1_Nonsense_Mutation_p.S197*|KIAA0174_uc010cgi.1_Nonsense_Mutation_p.S116*|KIAA0174_uc010cgj.1_Nonsense_Mutation_p.S262*|KIAA0174_uc010vml.1_RNA			P53990	IST1_HUMAN	SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;	343	Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1						GCCAGCACCTCAGCATCTGAA	0.463		NA											10	253					0	0	0	0
DHODH	1723	broad.mit.edu	37	16	72057137	72057137	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:72057137C>G	uc002fbp.2	+	7	914	c.893C>G	c.(892-894)TCT>TGT	p.S298C	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	298	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GCCCTGCGCTCTGAAACAGGA	0.562		NA											8	51					0	0	0	0
TXNL4B	54957	broad.mit.edu	37	16	72124582	72124582	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:72124582C>G	uc002fca.2	-	2	378	c.67G>C	c.(67-69)GAG>CAG	p.E23Q	TXNL4B_uc010cgl.2_RNA|TXNL4B_uc010vmn.1_Missense_Mutation_p.E23Q|TXNL4B_uc010vmo.1_Missense_Mutation_p.E23Q	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	23					mitosis|mRNA processing|RNA splicing	spliceosomal complex				ovary(1)	1						AACACCTTCTCAGCAGTACTT	0.398		NA											10	61					0	0	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572114	76572114	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr16:76572114G>A	uc002feu.1	+	21	3482	c.3097G>A	c.(3097-3099)GGT>AGT	p.G1033S	CNTNAP4_uc002fev.1_Missense_Mutation_p.G897S|CNTNAP4_uc010chb.1_Missense_Mutation_p.G960S|CNTNAP4_uc002fex.1_Missense_Mutation_p.G1036S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1033	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TTCATTTCATGGTGATATGAA	0.373		NA											9	84					0	0	0	0
ZNF232	7775	broad.mit.edu	37	17	5012863	5012863	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:5012863C>T	uc002gas.2	-	3	997	c.243G>A	c.(241-243)CTG>CTA	p.L81L	ZNF232_uc002gar.1_Silent_p.L108L|ZNF232_uc002gat.2_Silent_p.L108L|ZNF232_uc010vsv.1_Silent_p.L108L	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	81	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TCTCTGGCCTCAGCCACTCAC	0.582		NA											16	53					0	0	0	0
GPS2	2874	broad.mit.edu	37	17	7216603	7216603	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7216603G>C	uc002gfv.1	-	8	995	c.732C>G	c.(730-732)CTC>CTG	p.L244L	GPS2_uc002gfw.1_Silent_p.L206L|GPS2_uc002gfx.1_Silent_p.L244L|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Silent_p.L244L	NM_004489	NP_004480	Q13227	GPS2_HUMAN	G protein pathway suppressor 2	244					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			ovary(2)|pancreas(1)	3		Prostate(122;0.157)				CACCAGGCTGGAGGAAACCTA	0.557		NA									OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	73					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7578263G>A	uc002gim.2	-	6	780	c.586C>T	c.(586-588)CGA>TGA	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	196	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	24					0	0	0	0
CHD3	1107	broad.mit.edu	37	17	7810759	7810759	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:7810759G>C	uc002gje.2	+	32	5027	c.4877G>C	c.(4876-4878)GGA>GCA	p.G1626A	CHD3_uc002gjd.2_Missense_Mutation_p.G1685A|CHD3_uc002gjf.2_Missense_Mutation_p.G1626A|CHD3_uc002gjh.2_Missense_Mutation_p.G202A|CHD3_uc002gjj.2_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1626	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GGGGTGCCTGGAGAGATGGAG	0.592		NA											3	27					0	0	0	0
TMEM107	84314	broad.mit.edu	37	17	8077524	8077524	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:8077524G>C	uc002gkg.3	-	5	530	c.420C>G	c.(418-420)TTC>TTG	p.F140L	TMEM107_uc002gkh.3_Missense_Mutation_p.F146L|TMEM107_uc002gki.3_Missense_Mutation_p.F139L|TMEM107_uc002gkj.3_RNA|TMEM107_uc002gkk.2_3'UTR	NM_183065	NP_898888	Q6UX40	TM107_HUMAN	transmembrane protein 107 isoform 2	140						integral to membrane					0						AAGGTAATCAGAAGGGTTTCT	0.502		NA											10	66					0	0	0	0
PFAS	5198	broad.mit.edu	37	17	8157504	8157504	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:8157504G>A	uc002gkr.2	+	3	304	c.163G>A	c.(163-165)GAG>AAG	p.E55K	PFAS_uc010vuv.1_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	55					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCCAGTGCTGAGGAGACAAA	0.587		NA											7	47					0	0	0	0
MYOCD	93649	broad.mit.edu	37	17	12656083	12656083	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:12656083C>T	uc002gnn.2	+	10	1777	c.1478C>T	c.(1477-1479)ACG>ATG	p.T493M	MYOCD_uc002gno.2_Missense_Mutation_p.T493M|MYOCD_uc002gnp.1_Missense_Mutation_p.T397M|MYOCD_uc002gnq.2_Missense_Mutation_p.T212M	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	493	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACGTGTGCACGGAGGAAAGT	0.612		NA											8	19					0	0	0	0
SLC6A4	6532	broad.mit.edu	37	17	28530257	28530257	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:28530257G>T	uc002hey.3	-	14	2295	c.1751C>A	c.(1750-1752)TCA>TAA	p.S584*	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	584	Helical; Name=12; (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AATGAAAGATGAGGTTCCTAT	0.398		NA											9	100					3.07e-06	3.32e-06	1	0
TNS4	84951	broad.mit.edu	37	17	38633892	38633892	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:38633892G>A	uc010cxb.2	-	13	2260	c.2096C>T	c.(2095-2097)TCG>TTG	p.S699L	TNS4_uc002huu.3_Missense_Mutation_p.S112L	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	699	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGACCTGCGAGGCTGGCTG	0.587		NA											9	72					0	0	0	0
KRT12	3859	broad.mit.edu	37	17	39019596	39019596	+	Splice_Site	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:39019596C>T	uc002hvk.2	-	6	1120	c.1096_splice	c.e6-1	p.K366_splice		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12						visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GGGATTTCTTCTGCACGTGGG	0.552		NA											3	12					0	0	0	0
IMP5	162540	broad.mit.edu	37	17	43924109	43924109	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:43924109G>A	uc010wka.1	+	1	1837	c.1837G>A	c.(1837-1839)GAG>AAG	p.E613K	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	613	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GGATCCTAATGAGCTGCCCTT	0.592		NA											13	44					0	0	0	0
HELZ	9931	broad.mit.edu	37	17	65083187	65083187	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:65083187C>G	uc010wqk.1	-	32	5442	c.5255G>C	c.(5254-5256)AGA>ACA	p.R1752T	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R1751T	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACCAGGTCCTCTGGGCTCATA	0.428		NA											8	36					0	0	0	0
CANT1	124583	broad.mit.edu	37	17	76989755	76989755	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr17:76989755G>C	uc002jwn.2	-	6	1522	c.1083C>G	c.(1081-1083)CTC>CTG	p.L361L	CANT1_uc002jwk.2_Silent_p.L361L|CANT1_uc002jwj.2_Silent_p.L361L|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	361	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCTCGGATTTGAGGGCCACAA	0.607		NA	T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	0	0
SMAD2	4087	broad.mit.edu	37	18	45374862	45374862	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr18:45374862C>G	uc002lcy.2	-	8	1229	c.981G>C	c.(979-981)ATG>ATC	p.M327I	SMAD2_uc002lcz.2_Missense_Mutation_p.M327I|SMAD2_uc010xdc.1_Missense_Mutation_p.M297I|SMAD2_uc010xdd.1_Missense_Mutation_p.M297I	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	327	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						GCCTTCTTGTCATTTCTACCG	0.398		NA											7	64					0	0	0	0
RPS15	6209	broad.mit.edu	37	19	1440120	1440120	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:1440120G>C	uc002lsp.1	+	3	254	c.192G>C	c.(190-192)AAG>AAC	p.K64N	RPS15_uc002lsq.1_Missense_Mutation_p.K71N	NM_001018	NP_001009	P62841	RS15_HUMAN	ribosomal protein S15	64					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGGCCAAGAAGGAGGCGC	0.662		NA											3	17					0	0	0	0
LMNB2	84823	broad.mit.edu	37	19	2444431	2444431	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:2444431C>G	uc002lvy.2	-	2	399	c.312G>C	c.(310-312)CTG>CTC	p.L104L	LMNB2_uc002lwa.1_Silent_p.L124L	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	104	Rod.|Coil 1B.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCTGCCCTCAGCTTCCCAA	0.652		NA											6	41					0	0	0	0
LRG1	116844	broad.mit.edu	37	19	4538721	4538721	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:4538721G>C	uc002mau.2	-	2	286	c.275C>G	c.(274-276)TCT>TGT	p.S92C	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	92						extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGAGCTTAGAGGCGCCCTG	0.627		NA											6	29					0	0	0	0
COL5A3	50509	broad.mit.edu	37	19	10080263	10080263	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:10080263G>A	uc002mmq.1	-	56	4172	c.4086C>T	c.(4084-4086)ATC>ATT	p.I1362I		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1362	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CAGGGCCAGGGATCCCTCGAA	0.672		NA											3	23					0	0	0	0
DOCK6	57572	broad.mit.edu	37	19	11333759	11333759	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:11333759G>C	uc002mqs.3	-	25	3020	c.2979C>G	c.(2977-2979)CTC>CTG	p.L993L	DOCK6_uc010xlq.1_Silent_p.L332L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	993					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GGCTGGCGTTGAGGTGCTCGG	0.617		NA											6	74					0	0	0	0
DNAJB1	3337	broad.mit.edu	37	19	14627500	14627500	+	Silent	SNP	T	T	C	rs143985567	byFrequency	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:14627500T>C	uc002myz.1	-	2	610	c.570A>G	c.(568-570)CTA>CTG	p.L190L	DNAJB1_uc010xnr.1_Silent_p.L90L	NM_006145	NP_006136	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	190					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(1328;0.0476)		CGTCGGGGTTTAGCCGCTTGT	0.483		NA											4	302					0	0	0	0
C19orf44	84167	broad.mit.edu	37	19	16614078	16614078	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:16614078C>G	uc002neh.1	+	3	1035	c.962C>G	c.(961-963)TCA>TGA	p.S321*	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Nonsense_Mutation_p.S321*|C19orf44_uc002neg.2_Nonsense_Mutation_p.S321*|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	321											0						GGCGCCTTTTCAAACTCAGTG	0.552		NA											12	111					0	0	0	0
NXNL1	115861	broad.mit.edu	37	19	17571473	17571473	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:17571473C>T	uc002ngs.2	-	1	253	c.206G>A	c.(205-207)CGG>CAG	p.R69Q		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	69	Thioredoxin.				cell redox homeostasis	nuclear outer membrane					0						CTGAGCCGCCCGCAGTACATA	0.587		NA											15	59					0	0	0	0
UPF1	5976	broad.mit.edu	37	19	18943117	18943117	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:18943117C>G	uc002nkg.2	+	1	374	c.99C>G	c.(97-99)TTC>TTG	p.F33L	UPF1_uc002nkf.2_Missense_Mutation_p.F33L	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	33	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCTCCGAGTTCGAGTTCACCG	0.428		NA											21	69					0	0	0	0
ZNF90	7643	broad.mit.edu	37	19	20229332	20229332	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:20229332G>A	uc002nor.2	+	4	1108	c.969G>A	c.(967-969)AAG>AAA	p.K323K	ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	zinc finger protein 90	323	C2H2-type 6.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						AAGCCTTCAAGCTCTCCTCAA	0.418		NA											5	36					0	0	0	0
ZNF429	353088	broad.mit.edu	37	19	21720644	21720644	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:21720644G>C	uc002nqd.1	+	4	1926	c.1789G>C	c.(1789-1791)GAA>CAA	p.E597Q	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	597	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CAAATGTGAAGAATGTGGCAA	0.358		NA											6	58					0	0	0	0
ZNF681	148213	broad.mit.edu	37	19	23927132	23927132	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:23927132G>C	uc002nrk.3	-	4	1362	c.1220C>G	c.(1219-1221)TCA>TGA	p.S407*	ZNF681_uc002nrl.3_Nonsense_Mutation_p.S338*|ZNF681_uc002nrj.3_Nonsense_Mutation_p.S338*	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	407	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGGTGTGAGGACTTGTT	0.398		NA											8	71					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	31039498	31039498	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:31039498C>G	uc002nsu.1	+	4	3110	c.2972C>G	c.(2971-2973)TCG>TGG	p.S991W	ZNF536_uc010edd.1_Missense_Mutation_p.S991W	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CCGGGCTCCTCGGTAACTGTG	0.577		NA											10	68					0	0	0	0
GPATCH1	55094	broad.mit.edu	37	19	33592477	33592477	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:33592477G>C	uc002nug.1	+	9	1391	c.1077G>C	c.(1075-1077)AAG>AAC	p.K359N		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	359						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)					TATCTTCTAAGAAAGTAAGAA	0.303		NA											9	48					0	0	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912556	34912556	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:34912556C>G	uc002nvj.2	+	6	963	c.930C>G	c.(928-930)CTC>CTG	p.L310L		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	310						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCAGCATGCTCAAGAGTGCTA	0.408		NA											13	102					0	0	0	0
WDR62	284403	broad.mit.edu	37	19	36594781	36594781	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:36594781C>G	uc002odc.2	+	30	4127	c.4036C>G	c.(4036-4038)CCT>GCT	p.P1346A	WDR62_uc002odd.2_Missense_Mutation_p.P1351A	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1346					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCCCAGCTCCTGAGTCCCC	0.687		NA											8	60					0	0	0	0
ZNF574	64763	broad.mit.edu	37	19	42584276	42584276	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:42584276G>C	uc002osm.3	+	2	1687	c.1518G>C	c.(1516-1518)AAG>AAC	p.K506N	ZNF574_uc002osk.3_Missense_Mutation_p.K596N	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	506	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				TGTTCAAGAAGAAGTCTCACG	0.582		NA											32	222					0	0	0	0
CIC	23152	broad.mit.edu	37	19	42797308	42797308	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:42797308G>C	uc002otf.1	+	15	3710	c.3670G>C	c.(3670-3672)GAG>CAG	p.E1224Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1224	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GTCTGAGCTTGAGGGGCAGCC	0.716		NA	T	DUX4	soft tissue sarcoma								3	15					0	0	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570821	47570821	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:47570821C>T	uc002pga.3	-	15	2742	c.2704G>A	c.(2704-2706)GAA>AAA	p.E902K	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	902							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGCTGCCTTCGGGCTTGGAG	0.697		NA											5	22					0	0	0	0
PRR12	57479	broad.mit.edu	37	19	50099779	50099779	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50099779G>C	uc002poo.3	+	4	2187	c.2187G>C	c.(2185-2187)AAG>AAC	p.K729N		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGAGAAGAAGAAAGGGCCAG	0.652		NA											5	15					0	0	0	0
IL4I1	259307	broad.mit.edu	37	19	50394716	50394716	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50394716G>C	uc002pqt.1	-	6	660	c.582C>G	c.(580-582)CTC>CTG	p.L194L	IL4I1_uc002pqv.1_Silent_p.L203L|IL4I1_uc010eno.1_Silent_p.L202L|IL4I1_uc002pqw.1_Silent_p.L202L|IL4I1_uc002pqu.1_Silent_p.L216L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	194						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCAGTGCCTTGAGGTCTTTGA	0.532		NA											17	116					0	0	0	0
POLD1	5424	broad.mit.edu	37	19	50902122	50902122	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:50902122G>A	uc002psb.3	+	2	70	c.14G>A	c.(13-15)CGG>CAG	p.R5Q	POLD1_uc002psc.3_Missense_Mutation_p.R5Q|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R5Q	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	5	Nuclear localization signal (Potential).				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GATGGCAAGCGGCGGCCAGGC	0.647		NA						DNA_polymerases_(catalytic_subunits)					9	16					0	0	0	0
ZNF614	80110	broad.mit.edu	37	19	52519444	52519444	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:52519444G>A	uc002pyj.2	-	5	1809	c.1407C>T	c.(1405-1407)TGC>TGT	p.C469C	ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Silent_p.C172C	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	469	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTGTATGAGGCATATTTTCT	0.413		NA											4	137					0	0	0	0
LILRB5	10990	broad.mit.edu	37	19	54758764	54758764	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:54758764G>A	uc002qex.2	-	6	1200	c.1089C>T	c.(1087-1089)CCC>CCT	p.P363P	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.P354P|LILRB5_uc002qey.2_Silent_p.P363P|LILRB5_uc002qez.2_Silent_p.P263P|LILRB5_uc002qfa.1_Silent_p.P253P|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	363	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACACAGCGGGGGATGGGCTG	0.547		NA											5	53					0	0	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824272	55824272	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:55824272G>A	uc010esw.1	-	8	830	c.657C>T	c.(655-657)CTC>CTT	p.L219L	TMEM150B_uc010yfu.1_Silent_p.L219L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	transmembrane protein 150B precursor	219	Cytoplasmic (Potential).					integral to membrane					0						GCGGGGGGCTGAGGCTGGGCC	0.672		NA											5	9					0	0	0	0
EPN1	29924	broad.mit.edu	37	19	56204355	56204355	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:56204355G>C	uc002qlw.2	+	9	1558	c.1216G>C	c.(1216-1218)GAC>CAC	p.D406H	EPN1_uc002qlv.2_Missense_Mutation_p.D380H|EPN1_uc010etd.2_Missense_Mutation_p.D405H|EPN1_uc002qlx.2_Missense_Mutation_p.D492H	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	406	[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGAGTTCTCTGACTTTGACCG	0.701		NA											19	121					0	0	0	0
NLRP13	126204	broad.mit.edu	37	19	56423845	56423845	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr19:56423845C>T	uc010ygg.1	-	5	1363	c.1338G>A	c.(1336-1338)CAG>CAA	p.Q446Q		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	446	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGTGATTGACTGGAGATCGT	0.478		NA											13	108					0	0	0	0
PDIA6	10130	broad.mit.edu	37	2	10931955	10931955	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:10931955C>G	uc002rau.2	-	6	688	c.550G>C	c.(550-552)GAG>CAG	p.E184Q	PDIA6_uc010yjg.1_Missense_Mutation_p.E181Q|PDIA6_uc002rav.2_Missense_Mutation_p.E236Q|PDIA6_uc010yjh.1_Missense_Mutation_p.E189Q|PDIA6_uc002raw.2_Missense_Mutation_p.E232Q	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	protein disulfide isomerase A6 precursor	184	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GCATAGAACTCAACCATCCAA	0.398		NA											8	45					0	0	0	0
ROCK2	9475	broad.mit.edu	37	2	11364578	11364578	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:11364578G>T	uc002rbd.1	-	7	1326	c.877C>A	c.(877-879)CCA>ACA	p.P293T		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	293	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GCATAAAATGGAGTATCCCCT	0.318		NA											11	98					3.07e-06	3.32e-06	1	0
ZNF513	130557	broad.mit.edu	37	2	27600989	27600989	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:27600989C>T	uc002rkk.2	-	4	1249	c.1049G>A	c.(1048-1050)GGG>GAG	p.G350E	ZNF513_uc002rkj.2_Missense_Mutation_p.G288E	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	350					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGCCCCCCACTGGCACC	0.652		NA											10	69					0	0	0	0
IFT172	26160	broad.mit.edu	37	2	27695135	27695135	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:27695135G>A	uc002rku.2	-	15	1557	c.1506C>T	c.(1504-1506)TTC>TTT	p.F502F	IFT172_uc002rkw.2_Silent_p.F502F|IFT172_uc010yls.1_Silent_p.F481F|IFT172_uc010ezc.2_Silent_p.F502F|IFT172_uc002rkv.2_Silent_p.F476F	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	502	WD 8.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TCCGGTCCCTGAAGAGGAGCT	0.547		NA											14	148					0	0	0	0
GALNT14	79623	broad.mit.edu	37	2	31133797	31133797	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:31133797C>T	uc002rnr.2	-	15	2248	c.1629G>A	c.(1627-1629)ATG>ATA	p.M543I	GALNT14_uc002rnq.2_Missense_Mutation_p.M523I|GALNT14_uc002rns.2_Missense_Mutation_p.M548I|GALNT14_uc010ymr.1_Missense_Mutation_p.M508I	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	543	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					AGTGCTGGCTCATGAGTGAGG	0.567		NA											8	67					0	0	0	0
SPAST	6683	broad.mit.edu	37	2	32289083	32289083	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:32289083C>T	uc002roc.2	+	1	404	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SPAST_uc002rod.2_Silent_p.F61F	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	61	Required for interaction with SSNA1 and microtubules.|Required for interaction with RTN1.|Nuclear export signal.|Required for interaction with ATL1.|Helical; (Potential).|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGTAGGCTTCGCGCTGCTGC	0.502		NA											4	46					0	0	0	0
ATL2	64225	broad.mit.edu	37	2	38537571	38537571	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:38537571C>T	uc002rqq.2	-	8	853	c.823G>A	c.(823-825)GAA>AAA	p.E275K	ATL2_uc010ynm.1_Missense_Mutation_p.E257K|ATL2_uc010ynn.1_Missense_Mutation_p.E257K|ATL2_uc010yno.1_Missense_Mutation_p.E104K|ATL2_uc002rqs.2_Missense_Mutation_p.E275K|ATL2_uc002rqr.2_Missense_Mutation_p.E104K	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	275	Potential.|Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						TGAAGCTCTTCATGTTGATTT	0.378		NA											10	57					0	0	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43986079	43986079	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:43986079C>T	uc010yny.1	+	27	4065	c.3982C>T	c.(3982-3984)CGG>TGG	p.R1328W		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1328	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATGGCCCTCCGGGGACACAG	0.373		NA											3	29					0	0	0	0
MDH1	4190	broad.mit.edu	37	2	63831977	63831977	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:63831977G>A	uc002scj.1	+	6	702	c.646G>A	c.(646-648)GAC>AAC	p.D216N	MDH1_uc010ypv.1_Missense_Mutation_p.D234N|MDH1_uc010ypw.1_Missense_Mutation_p.D121N	NM_005917	NP_005908	P40925	MDHC_HUMAN	cytosolic malate dehydrogenase	216					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			kidney(2)	2					NADH(DB00157)	TCTGAAAGATGACAGCTGGCT	0.433		NA											8	46					0	0	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71189955	71189955	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:71189955C>T	uc002shj.2	+	9	921	c.834C>T	c.(832-834)TTC>TTT	p.F278F	ATP6V1B1_uc010fdv.2_Silent_p.F278F|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.F236F	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	278					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						CTGCTGAATTCCTTGCCTACC	0.582		NA											11	69					0	0	0	0
TBC1D8	11138	broad.mit.edu	37	2	101655014	101655014	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:101655014C>T	uc010fiv.2	-	7	1270	c.1139G>A	c.(1138-1140)CGA>CAA	p.R380Q	TBC1D8_uc010yvw.1_Missense_Mutation_p.R395Q|TBC1D8_uc002tau.3_Missense_Mutation_p.R137Q	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	380					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CAGGCTGTCTCGGTCCCGGAG	0.587		NA											20	135					0	0	0	0
C2orf29	55571	broad.mit.edu	37	2	101874329	101874329	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:101874329C>G	uc002taw.3	+	2	673	c.591C>G	c.(589-591)TTC>TTG	p.F197L		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	197					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGGAACTCTTCAAAAAGACGC	0.473		NA											11	92					0	0	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626898	108626898	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:108626898G>T	uc002tdv.2	+	9	1600	c.1324G>T	c.(1324-1326)GGC>TGC	p.G442C	SLC5A7_uc010ywm.1_Missense_Mutation_p.G195C|SLC5A7_uc010fjj.2_Missense_Mutation_p.G442C|SLC5A7_uc010ywn.1_Missense_Mutation_p.G329C	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	442	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	TTATGTTTCTGGCCTCTTCCT	0.453		NA											8	67					0.00307968	0.00320342	1	0
ZC3H8	84524	broad.mit.edu	37	2	112994207	112994207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:112994207G>A	uc002thp.2	-	4	542	c.436C>T	c.(436-438)CGA>TGA	p.R146*		NM_032494	NP_115883	Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	146					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGCCATTTTCGCTTCATTTTC	0.353		NA											11	66					0	0	0	0
PSD4	23550	broad.mit.edu	37	2	113950670	113950670	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:113950670C>G	uc002tjc.2	+	7	2067	c.1884C>G	c.(1882-1884)TTC>TTG	p.F628L	PSD4_uc002tjd.2_Missense_Mutation_p.F249L|PSD4_uc002tje.2_Missense_Mutation_p.F599L|PSD4_uc002tjf.2_Missense_Mutation_p.F249L	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	628	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TGTCCTTCTTCCAGTTTGGAG	0.622		NA											4	68					0	0	0	0
R3HDM1	23518	broad.mit.edu	37	2	136389447	136389447	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:136389447T>A	uc002tuo.2	+	9	944	c.574T>A	c.(574-576)TTC>ATC	p.F192I	R3HDM1_uc010fni.2_Missense_Mutation_p.F190I|R3HDM1_uc002tup.2_Missense_Mutation_p.F136I|R3HDM1_uc010zbh.1_Missense_Mutation_p.F24I	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	192	R3H.						nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACGTAAAAAATTCCCCCCAAT	0.398		NA											21	98					0	0	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194206	160194207	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:160194206_160194207GC>AA	uc002uao.2	-	32	5883_5884	c.5531_5532GC>TT	c.(5530-5532)TGC>TTT	p.C1844F	BAZ2B_uc002uap.2_Missense_Mutation_p.C1808F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CATGCTCCTTGCACAATTTAGT	0.426		NA											14	80					0	0	0	0
IFIH1	64135	broad.mit.edu	37	2	163163360	163163360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:163163360C>G	uc002uce.2	-	3	850	c.628G>C	c.(628-630)GAG>CAG	p.E210Q		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	210					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						GATAAATTCTCAATCTCTGTG	0.368		NA											3	38					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179417226	179417226	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:179417226G>C	uc010zfg.1	-	284	82921	c.82697C>G	c.(82696-82698)TCA>TGA	p.S27566*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.S21261*|TTN_uc010zfi.1_Nonsense_Mutation_p.S21194*|TTN_uc010zfj.1_Nonsense_Mutation_p.S21069*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28493							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)			AGGGATATCTGACAGGTCAAC	0.423		NA											6	35					0	0	0	0
MYO1B	4430	broad.mit.edu	37	2	192225422	192225422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:192225422C>T	uc010fsg.2	+	8	883	c.628C>T	c.(628-630)CAG>TAG	p.Q210*	MYO1B_uc002usq.2_Nonsense_Mutation_p.Q210*|MYO1B_uc002usr.2_Nonsense_Mutation_p.Q210*|MYO1B_uc002uss.1_Nonsense_Mutation_p.Q210*	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	210	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGTGTTCTATCAGCTGCTCTC	0.338		NA											20	140					0	0	0	0
PAX3	5077	broad.mit.edu	37	2	223066840	223066840	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:223066840G>C	uc010fwo.2	-	8	1609	c.1243C>G	c.(1243-1245)CTC>GTC	p.L415V	PAX3_uc002vmt.1_Missense_Mutation_p.L415V|PAX3_uc002vmy.1_Missense_Mutation_p.L414V|PAX3_uc002vmv.1_Missense_Mutation_p.L415V|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	415					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCCGGTGAGAGGGGAGAGC	0.547		NA	T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	21					0	0	0	0
WDFY1	57590	broad.mit.edu	37	2	224809972	224809972	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:224809972C>G	uc002vnq.2	-	1	81	c.30G>C	c.(28-30)CAG>CAC	p.Q10H		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	10						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGCGGCTGCTCTGCGGCCTGG	0.726		NA											4	27					0	0	0	0
ARMC9	80210	broad.mit.edu	37	2	232146798	232146798	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr2:232146798G>A	uc002vrq.3	+	17	1690	c.1578G>A	c.(1576-1578)CTG>CTA	p.L526L	ARMC9_uc002vrp.3_Silent_p.L526L|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	526							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATGGAGCTCTGTACAGCATCC	0.428		NA											16	143					0	0	0	0
PTPRA	5786	broad.mit.edu	37	20	3007774	3007774	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:3007774C>G	uc010zqd.1	+	18	2066	c.1749C>G	c.(1747-1749)TTC>TTG	p.F583L	PTPRA_uc002whj.2_Missense_Mutation_p.F572L|PTPRA_uc002whk.2_Missense_Mutation_p.F563L|PTPRA_uc002whl.2_Missense_Mutation_p.F563L|PTPRA_uc002whm.2_Missense_Mutation_p.F339L|PTPRA_uc002whn.2_Missense_Mutation_p.F563L|PTPRA_uc002who.2_Missense_Mutation_p.F235L	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	572	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						CAGATGAATTCAACAGAGTGA	0.493		NA											9	107					0	0	0	0
RNF24	11237	broad.mit.edu	37	20	3944599	3944599	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:3944599G>A	uc002wkh.2	-	2	336	c.66C>T	c.(64-66)CTC>CTT	p.L22L	RNF24_uc002wki.2_Silent_p.L43L|RNF24_uc002wkj.2_Silent_p.L22L	NM_007219	NP_009150	Q9Y225	RNF24_HUMAN	ring finger protein 24 isoform 1	22						Golgi membrane|integral to membrane	zinc ion binding				0						TATATATGTTGAGAGGCAGAT	0.363		NA											7	62					0	0	0	0
RRBP1	6238	broad.mit.edu	37	20	17623689	17623689	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:17623689C>T	uc002wpv.1	-	5	1051	c.697G>A	c.(697-699)GAG>AAG	p.E233K	RRBP1_uc002wpu.2_Missense_Mutation_p.E7K|RRBP1_uc002wpw.1_Missense_Mutation_p.E233K|RRBP1_uc010gcl.1_Missense_Mutation_p.E7K	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	666	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CGCTGGGCCTCGCCCTCGTTG	0.637		NA											8	44					0	0	0	0
RIN2	54453	broad.mit.edu	37	20	19981362	19981362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:19981362G>C	uc002wro.1	+	11	2506	c.2470G>C	c.(2470-2472)GAG>CAG	p.E824Q	RIN2_uc010gcu.1_Missense_Mutation_p.E391Q|RIN2_uc010gcv.1_Missense_Mutation_p.E618Q	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	824	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GATCTGCGCTGAGAAGTTCAA	0.517		NA											13	118					0	0	0	0
CST9L	128821	broad.mit.edu	37	20	23546668	23546668	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:23546668C>G	uc002wtk.3	-	2	596	c.297G>C	c.(295-297)GGG>GGC	p.G99G		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	99						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTTCAAATTTCCCACACCTAG	0.468		NA											22	205					0	0	0	0
CSE1L	1434	broad.mit.edu	37	20	47691914	47691914	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:47691914G>C	uc002xty.2	+	12	1326	c.1192G>C	c.(1192-1194)GAG>CAG	p.E398Q	CSE1L_uc010zyg.1_Missense_Mutation_p.E181Q|CSE1L_uc010ghx.2_Missense_Mutation_p.E342Q|CSE1L_uc010ghy.2_Missense_Mutation_p.E47Q|CSE1L_uc010zyh.1_Missense_Mutation_p.E47Q	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	398					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CAAGTTTTTTGAGGGACCTGT	0.383		NA											7	97					0	0	0	0
SRMS	6725	broad.mit.edu	37	20	62172623	62172623	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:62172623G>C	uc002yfi.1	-	7	1247	c.1206C>G	c.(1204-1206)GTC>GTG	p.V402V		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	402	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|lung(1)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCTGGGAGAAGACACGATAAT	0.617		NA											18	160					0	0	0	0
RGS19	10287	broad.mit.edu	37	20	62705602	62705602	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:62705602G>C	uc002yhy.2	-	5	624	c.357C>G	c.(355-357)TTC>TTG	p.F119L	RGS19_uc002yhz.2_Missense_Mutation_p.F97L|RGS19_uc002yia.2_Missense_Mutation_p.F119L|RGS19_uc002yib.2_Missense_Mutation_p.F119L	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	119	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AGGCCAACCAGAAGAGCATGT	0.607		NA											4	29					0	0	0	0
RNF160	26046	broad.mit.edu	37	21	30318479	30318479	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr21:30318479G>A	uc002ymr.2	-	20	3769	c.3756C>T	c.(3754-3756)TTC>TTT	p.F1252F		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1206							ligase activity|zinc ion binding				0						CCTACCAACTGAAAAGAAAAA	0.308		NA											8	106					0	0	0	0
HIRA	7290	broad.mit.edu	37	22	19384358	19384358	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:19384358C>T	uc002zpf.1	-	7	826	c.606G>A	c.(604-606)AGG>AGA	p.R202R	HIRA_uc011agx.1_Silent_p.R68R|HIRA_uc010grn.1_Silent_p.R202R|HIRA_uc010gro.1_Silent_p.R158R|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	202	WD 4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					AGTCCAGCGTCCTCCACACCT	0.557		NA											8	79					0	0	0	0
DGCR8	54487	broad.mit.edu	37	22	20094865	20094865	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:20094865A>G	uc002zri.2	+	12	2418	c.2068A>G	c.(2068-2070)AAC>GAC	p.N690D	DGCR8_uc010grz.2_Missense_Mutation_p.N657D|DGCR8_uc002zrj.2_Missense_Mutation_p.N333D	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	690	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					ACATGTCAAGAACTGGGGGTC	0.537		NA											6	108					0	0	0	0
ZNF74	7625	broad.mit.edu	37	22	20755021	20755021	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:20755021G>C	uc010gsm.2	+	4	432	c.220G>C	c.(220-222)GAG>CAG	p.E74Q	ZNF74_uc002zsg.2_Missense_Mutation_p.E3Q|ZNF74_uc002zsh.2_Missense_Mutation_p.E74Q|ZNF74_uc002zsi.2_Missense_Mutation_p.E3Q|ZNF74_uc010gsn.2_Missense_Mutation_p.E3Q	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	74	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTGATGTTGGAGAACTACCA	0.542		NA											9	134					0	0	0	0
PITPNB	23760	broad.mit.edu	37	22	28293876	28293876	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:28293876C>G	uc003adk.2	-	4	278	c.202G>C	c.(202-204)GTG>CTG	p.V68L	PITPNB_uc011akh.1_Missense_Mutation_p.V70L|PITPNB_uc003adl.2_Missense_Mutation_p.V68L	NM_012399	NP_036531	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	68					lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1						AATGCAGGCACTTTGCTGGGA	0.458		NA											11	97					0	0	0	0
NF2	4771	broad.mit.edu	37	22	30038255	30038255	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:30038255C>T	uc003age.3	+	4	871	c.428C>T	c.(427-429)TCT>TTT	p.S143F	NF2_uc003afy.3_Missense_Mutation_p.S143F|NF2_uc003afz.3_Missense_Mutation_p.S60F|NF2_uc003agf.3_Missense_Mutation_p.S143F|NF2_uc003agb.3_Missense_Mutation_p.S66F|NF2_uc003agc.3_Missense_Mutation_p.S105F|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.S143F|NF2_uc003aga.3_Missense_Mutation_p.S101F|NF2_uc003agh.3_Missense_Mutation_p.S102F|NF2_uc003agi.3_Missense_Mutation_p.S60F|NF2_uc003agj.3_Missense_Mutation_p.S143F|NF2_uc003agk.3_Missense_Mutation_p.S105F	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	143	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.Y144fs*5(1)|p.K123fs*2(1)|p.L127_D382del(1)|p.L140_P252del(1)|p.A142fs*8(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						CTCCTGGCTTCTTACGCCGTC	0.458		NA	D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				12	97					0	0	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891384	30891384	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:30891384C>T	uc003aid.2	-	5	380	c.280G>A	c.(280-282)GAA>AAA	p.E94K	SEC14L4_uc011akz.1_Missense_Mutation_p.E94K|SEC14L4_uc003aie.2_Missense_Mutation_p.E79K|SEC14L4_uc003aif.2_Missense_Mutation_p.E40K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	94	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	GGGCAGCCTTCGTAGTCGTAG	0.562		NA											7	42					0	0	0	0
SFI1	9814	broad.mit.edu	37	22	31927062	31927062	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr22:31927062C>G	uc003ale.2	+	4	678	c.285C>G	c.(283-285)TTC>TTG	p.F95L	SFI1_uc003ald.1_Intron|SFI1_uc003alf.2_Missense_Mutation_p.F95L|SFI1_uc003alg.2_Intron|SFI1_uc011alp.1_Intron|SFI1_uc011alq.1_Intron|SFI1_uc003alh.2_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	95					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CCAGAAAGTTCTTATATTTAT	0.358		NA											5	85					0	0	0	0
CNTN4	152330	broad.mit.edu	37	3	2908579	2908579	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:2908579G>A	uc003bpc.2	+	7	819	c.598G>A	c.(598-600)GTG>ATG	p.V200M	CNTN4_uc003bpb.1_Translation_Start_Site|CNTN4_uc003bpd.1_Missense_Mutation_p.V200M	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	200	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TACCAATACCGTGACAAACCA	0.398		NA											8	54					0	0	0	0
WDR48	57599	broad.mit.edu	37	3	39104562	39104562	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:39104562G>C	uc003cit.2	+	2	80	c.70G>C	c.(70-72)GAA>CAA	p.E24Q	WDR48_uc011ayt.1_Missense_Mutation_p.E24Q|WDR48_uc011ayu.1_5'UTR|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	24					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TATTCGAGATGAAGTGGAGAA	0.388		NA											9	74					0	0	0	0
CCDC36	339834	broad.mit.edu	37	3	49293924	49293924	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:49293924G>C	uc003cwk.2	+	10	1381	c.994G>C	c.(994-996)GAA>CAA	p.E332Q	CCDC36_uc011bck.1_Missense_Mutation_p.E332Q	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	332										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGATCTCCAAGAAGAGGCTGC	0.512		NA											19	82					0	0	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798799	113798799	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:113798799G>C	uc003eay.2	+	8	1023	c.793G>C	c.(793-795)GAA>CAA	p.E265Q	QTRTD1_uc003eaz.2_Missense_Mutation_p.E277Q|QTRTD1_uc011biq.1_Missense_Mutation_p.E142Q|QTRTD1_uc011bir.1_Missense_Mutation_p.E159Q	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	265					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						CGAGTGTATTGAAAGAGGAGT	0.433		NA											21	155					0	0	0	0
CCDC58	131076	broad.mit.edu	37	3	122090639	122090639	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:122090639G>C	uc003eey.2	-	2	63	c.60C>G	c.(58-60)CTC>CTG	p.L20L		NM_001017928	NP_001017928	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	20											0				GBM - Glioblastoma multiforme(114;0.148)		TCATCACCTTGAGTAATTCCT	0.318		NA											8	63					0	0	0	0
PAQR9	344838	broad.mit.edu	37	3	142681168	142681168	+	Silent	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:142681168G>C	uc003evg.2	-	1	1011	c.1011C>G	c.(1009-1011)CTC>CTG	p.L337L	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	337	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GCGGCGCCTGGAGGAACTGGC	0.582		NA											17	123					0	0	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307603	146307603	+	Splice_Site	SNP	T	T	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:146307603T>A	uc003ewb.2	-	6	1620	c.616_splice	c.e6-1	p.V206_splice	PLSCR5_uc010hvb.2_Splice_Site_p.V194_splice|PLSCR5_uc010hvc.2_Splice_Site_p.V206_splice	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5												0						GGTTTTCACCTTTAGAAAGAA	0.299		NA											4	110					0	0	0	0
TM4SF18	116441	broad.mit.edu	37	3	149039271	149039271	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:149039271G>A	uc003exa.2	-	6	737	c.600C>T	c.(598-600)ATC>ATT	p.I200I		NM_138786	NP_620141	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	200	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTATTCAAATGATTCCAGGCT	0.303		NA											13	109					0	0	0	0
PTX3	5806	broad.mit.edu	37	3	157160249	157160249	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:157160249C>T	uc003fbl.3	+	3	770	c.627C>T	c.(625-627)GCC>GCT	p.A209A	VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	pentraxin 3 precursor	209	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)	1			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTTAGTGCCTGCATTTGGG	0.423		NA											15	86					0	0	0	0
FAM43A	131583	broad.mit.edu	37	3	194408636	194408636	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr3:194408636G>T	uc003fuj.2	+	1	2015	c.1081G>T	c.(1081-1083)GGC>TGC	p.G361C		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	361										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		TAGCGACCTGGGCGAGCTCAG	0.527		NA											4	15					0.00909568	0.00936359	1	0
ZCCHC4	29063	broad.mit.edu	37	4	25351204	25351204	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:25351204G>C	uc003grl.3	+	7	886	c.850G>C	c.(850-852)GAA>CAA	p.E284Q	ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_Missense_Mutation_p.E50Q	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	284							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				TGGCTTGGTTGAACCTCTGGC	0.378		NA											28	152					0	0	0	0
RHOH	399	broad.mit.edu	37	4	40245288	40245288	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:40245288G>A	uc003guz.2	+	3	1006	c.282G>A	c.(280-282)TTG>TTA	p.L94L		NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H precursor	94					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			ovary(1)|lung(1)	2						TCCTGAACTTGAAGAACAAGT	0.572		NA											14	32					0	0	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648692	41648692	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:41648692C>T	uc003gvu.3	+	12	1501	c.1447C>T	c.(1447-1449)CCC>TCC	p.P483S	LIMCH1_uc003gvv.3_Missense_Mutation_p.P483S|LIMCH1_uc003gvw.3_Missense_Mutation_p.P483S|LIMCH1_uc003gvx.3_Missense_Mutation_p.P471S|LIMCH1_uc003gwe.3_Missense_Mutation_p.P483S|LIMCH1_uc003gvy.3_Missense_Mutation_p.P312S|LIMCH1_uc003gwa.3_Missense_Mutation_p.P324S|LIMCH1_uc003gvz.3_Missense_Mutation_p.P868S|LIMCH1_uc011byu.1_Missense_Mutation_p.P317S|LIMCH1_uc003gwc.3_Missense_Mutation_p.P329S|LIMCH1_uc003gwd.3_Missense_Mutation_p.P317S|LIMCH1_uc011byv.1_Missense_Mutation_p.P234S	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	483					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CCTGAATGACCCCAATCCCAT	0.488		NA											33	320					0	0	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592795	125592795	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr4:125592795C>T	uc003ifg.3	-	3	1903	c.1637G>A	c.(1636-1638)AGA>AAA	p.R546K	ANKRD50_uc011cgo.1_Missense_Mutation_p.R367K|ANKRD50_uc010inw.2_Missense_Mutation_p.R546K	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	546	ANK 3.									central_nervous_system(1)	1						CAATAATGTTCTCCCATTTGA	0.398		NA											6	64					0	0	0	0
SPEF2	79925	broad.mit.edu	37	5	35806816	35806816	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:35806816C>G	uc003jjo.2	+	35	5129	c.5018C>G	c.(5017-5019)TCA>TGA	p.S1673*	SPEF2_uc003jjp.1_Nonsense_Mutation_p.S1159*|SPEF2_uc003jjr.2_Nonsense_Mutation_p.S728*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1673					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGACCTCCTCAACTGATGCA	0.388		NA											5	29					0	0	0	0
DHX29	54505	broad.mit.edu	37	5	54591224	54591224	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:54591224C>G	uc003jpx.2	-	5	754	c.634G>C	c.(634-636)GAG>CAG	p.E212Q	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	212							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTAGGGTCCTCTTCATATGTT	0.333		NA											11	85					0	0	0	0
MAP3K1	4214	broad.mit.edu	37	5	56179360	56179360	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:56179360G>C	uc003jqw.3	+	15	4174	c.3673G>C	c.(3673-3675)GAG>CAG	p.E1225Q		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1225					cellular response to mechanical stimulus|innate immune response|MyD88-dependent 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	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTAGACACCAGAGACTCTACC	0.368		NA											3	56					0	0	0	0
HTR1A	3350	broad.mit.edu	37	5	63256583	63256583	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:63256583C>G	uc011cqt.1	-	1	964	c.964G>C	c.(964-966)GAG>CAG	p.E322Q		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	322	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTTTTCCTCTCGAAAGAGGCG	0.617		NA											4	51					0	0	0	0
XRCC4	7518	broad.mit.edu	37	5	82400809	82400809	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:82400809G>C	uc003kib.2	+	2	199	c.71G>C	c.(70-72)TGG>TCG	p.W24S	XRCC4_uc003kia.1_Missense_Mutation_p.W24S|XRCC4_uc003kid.2_Missense_Mutation_p.W24S|XRCC4_uc003kic.2_Missense_Mutation_p.W24S|XRCC4_uc003kie.2_Missense_Mutation_p.W24S|XRCC4_uc003kif.1_Missense_Mutation_p.W24S	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	24					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			skin(3)	3		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CAAGTATCTTGGGAGAAAACA	0.338		NA						NHEJ					10	110					0	0	0	0
APC	324	broad.mit.edu	37	5	112175987	112175987	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:112175987G>T	uc010jby.2	+	16	5076	c.4696G>T	c.(4696-4698)GAT>TAT	p.D1566Y	APC_uc011cvt.1_Missense_Mutation_p.D1548Y|APC_uc003kpz.3_Missense_Mutation_p.D1566Y|APC_uc003kpy.3_Missense_Mutation_p.D1566Y|APC_uc010jbz.2_Missense_Mutation_p.D1283Y|APC_uc010jca.2_Missense_Mutation_p.D866Y	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1566	Ser-rich.|Asp/Glu-rich (acidic).				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCTATTAGATGATTCAGATGA	0.363		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			12	83					0.00010058	0.000106523	1	0
GRAMD3	65983	broad.mit.edu	37	5	125821386	125821386	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:125821386G>C	uc003ktu.2	+	11	1409	c.979G>C	c.(979-981)GAA>CAA	p.E327Q	GRAMD3_uc011cwt.1_Missense_Mutation_p.E342Q|GRAMD3_uc011cwv.1_Missense_Mutation_p.E335Q|GRAMD3_uc011cww.1_Missense_Mutation_p.E223Q|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.E218Q|GRAMD3_uc011cwz.1_Missense_Mutation_p.E311Q	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	327										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AGGTCTGTCAGAAACTGTTGG	0.353		NA											6	60					0	0	0	0
RAD50	10111	broad.mit.edu	37	5	131953875	131953875	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:131953875G>A	uc003kxi.2	+	21	3665	c.3278G>A	c.(3277-3279)CGA>CAA	p.R1093Q	RAD50_uc003kxh.2_Missense_Mutation_p.R954Q	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	1093					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAGAACTTCGAGAACCACAA	0.323		NA						Homologous_recombination					32	187					0	0	0	0
PCDH1	5097	broad.mit.edu	37	5	141244811	141244811	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:141244811C>T	uc003llq.2	-	3	1202	c.1085G>A	c.(1084-1086)CGA>CAA	p.R362Q	PCDH1_uc003llp.2_Missense_Mutation_p.R362Q|PCDH1_uc011dbf.1_Missense_Mutation_p.R340Q	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	362	Extracellular (Potential).|Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTTGGTGCCTCGGTCCTTAGC	0.582		NA											14	102					0	0	0	0
KIAA0141	9812	broad.mit.edu	37	5	141307791	141307791	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:141307791C>T	uc003lls.2	+	4	462	c.340C>T	c.(340-342)CGG>TGG	p.R114W	KIAA0141_uc003llt.2_Missense_Mutation_p.R114W	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	114					apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTCAGCGGGTAGAACA	0.612		NA											11	67					0	0	0	0
ZNF300	91975	broad.mit.edu	37	5	150276107	150276107	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:150276107C>G	uc003lsy.1	-	6	961	c.694G>C	c.(694-696)GAG>CAG	p.E232Q	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATCTTCTCAAGATTAGAA	0.353		NA											22	121					0	0	0	0
KIF4B	285643	broad.mit.edu	37	5	154393495	154393495	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:154393495G>A	uc010jih.1	+	1	236	c.76G>A	c.(76-78)GAG>AAG	p.E26K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	26	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAGATTAGCGAGGGCTGCCA	0.522		NA											22	44					0	0	0	0
GABRB2	2561	broad.mit.edu	37	5	160721121	160721121	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:160721121G>C	uc003lys.1	-	11	1724	c.1506C>G	c.(1504-1506)TTC>TTG	p.F502L	GABRB2_uc011deh.1_Missense_Mutation_p.F303L|GABRB2_uc003lyr.1_Missense_Mutation_p.F464L|GABRB2_uc003lyt.1_Missense_Mutation_p.F464L|GABRB2_uc010jiu.1_Missense_Mutation_p.F401L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	502	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGACGATGTTGAAGAAGGAAA	0.468		NA											7	55					0	0	0	0
FGFR4	2264	broad.mit.edu	37	5	176519745	176519745	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:176519745C>T	uc003mfl.2	+	8	1184	c.1017C>T	c.(1015-1017)ATC>ATT	p.I339I	FGFR4_uc003mfm.2_Silent_p.I339I|FGFR4_uc011dfu.1_Silent_p.I339I|FGFR4_uc011dfw.1_Silent_p.I339I|FGFR4_uc003mfo.2_Silent_p.I339I	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	339	Extracellular (Potential).|Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCAATTCCATCGGCCTCTCCT	0.632		NA								TSP Lung(9;0.080)			4	52					0	0	0	0
RGS14	10636	broad.mit.edu	37	5	176794747	176794747	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:176794747G>A	uc003mgf.2	+	7	842	c.660G>A	c.(658-660)CCG>CCA	p.P220P	RGS14_uc003mgg.1_Silent_p.P67P|RGS14_uc003mgh.2_Silent_p.P67P|RGS14_uc003mgi.2_5'UTR	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	220					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCGCTGCCGCTGGGTGTGG	0.711		NA											6	34					0	0	0	0
NUP153	9972	broad.mit.edu	37	6	17637953	17637953	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:17637953G>C	uc003ncd.1	-	16	2095	c.1895C>G	c.(1894-1896)ACA>AGA	p.T632R	NUP153_uc011dje.1_Missense_Mutation_p.T663R|NUP153_uc010jpl.1_Missense_Mutation_p.T590R	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	632					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TACTGGGCTTGTTGCGGTGGG	0.438		NA											10	80					0	0	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200015	26200015	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:26200015G>A	uc003ngx.2	+	1	229	c.229G>A	c.(229-231)GAG>AAG	p.E77K	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)				CATCGCTGGCGAGGCTTCCCG	0.612		NA											11	155					0	0	0	0
BTN1A1	696	broad.mit.edu	37	6	26505360	26505360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:26505360C>G	uc003nif.3	+	3	655	c.635C>G	c.(634-636)TCT>TGT	p.S212C		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	212	Extracellular (Potential).|Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						AGAGACACTTCTGCGAAAAAT	0.448		NA											11	71					0	0	0	0
PGBD1	84547	broad.mit.edu	37	6	28269871	28269871	+	Missense_Mutation	SNP	C	C	T	rs147237521	byFrequency	TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:28269871C>T	uc003nky.2	+	7	2610	c.2240C>T	c.(2239-2241)TCG>TTG	p.S747L	PGBD1_uc003nkz.2_Missense_Mutation_p.S747L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	747					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CAAATTATTTCGAAATACAGG	0.388		NA											8	52					0	0	0	0
OR2H1	26716	broad.mit.edu	37	6	29430385	29430385	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:29430385C>G	uc003nmi.2	+	3	1282	c.839C>G	c.(838-840)ACT>AGT	p.T280S	OR2H1_uc003nmj.1_Missense_Mutation_p.T280S|OR2H1_uc010jri.1_Missense_Mutation_p.T202S	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCAGTGGGCACTCCTTCACTT	0.512		NA											14	91					0	0	0	0
TRIM10	10107	broad.mit.edu	37	6	30126982	30126982	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:30126982C>G	uc003npo.3	-	2	546	c.470G>C	c.(469-471)AGA>ACA	p.R157T	TRIM10_uc003npn.2_Missense_Mutation_p.R157T	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	157	Potential.					cytoplasm	zinc ion binding				0						AATCTCCTCTCTCTCTTTTCT	0.423		NA											3	61					0	0	0	0
TRIM15	89870	broad.mit.edu	37	6	30131831	30131831	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:30131831C>G	uc010jrx.2	+	1	849	c.370C>G	c.(370-372)CAG>GAG	p.Q124E		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	124					mesodermal cell fate determination	intracellular	zinc ion binding				0						CGAGGCCATTCAGCCCTACCG	0.577		NA											11	42					0	0	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778792	31778792	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:31778792C>T	uc003nxh.2	-	2	1141	c.958G>A	c.(958-960)GAA>AAA	p.E320K	HSPA1L_uc010jte.2_Missense_Mutation_p.E320K	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	320					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						AGCGCTTTTTCTACAGGCTCC	0.488		NA											10	65					0	0	0	0
KIFC1	3833	broad.mit.edu	37	6	33371665	33371665	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:33371665G>C	uc003oef.3	+	6	965	c.515G>C	c.(514-516)AGA>ACA	p.R172T	KIFC1_uc011drf.1_Missense_Mutation_p.R164T	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	172	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						GACCAGCTCAGAGATGCCCAG	0.557		NA											12	91					0	0	0	0
KCNK16	83795	broad.mit.edu	37	6	39284586	39284586	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:39284586G>T	uc003ooq.2	-	4	647	c.633C>A	c.(631-633)AGC>AGA	p.S211R	KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Missense_Mutation_p.S211R|KCNK16_uc010jwy.2_Missense_Mutation_p.S211R|KCNK16_uc011dtz.1_Missense_Mutation_p.S211R	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	211						integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						AGCCAATGGTGCTGAGAGTGA	0.532		NA											36	247					4.47e-08	4.87e-08	1	0
ZNF451	26036	broad.mit.edu	37	6	57015615	57015615	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:57015615C>T	uc003pdm.1	+	11	2931	c.2707C>T	c.(2707-2709)CTA>TTA	p.L903L	ZNF451_uc003pdl.2_Silent_p.L903L|ZNF451_uc003pdn.1_Intron|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.L903L	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTTGGTCATCTACCAGGGCA	0.358		NA											17	106					0	0	0	0
KIAA1009	22832	broad.mit.edu	37	6	84895136	84895136	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:84895136C>G	uc010kbp.2	-	13	1529	c.1432G>C	c.(1432-1434)GAA>CAA	p.E478Q	KIAA1009_uc003pkj.3_Missense_Mutation_p.E402Q|KIAA1009_uc003pkk.2_Missense_Mutation_p.E478Q|KIAA1009_uc003pki.3_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	478					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ACAGCCCCTTCTTCTTCAGAA	0.363		NA											9	96					0	0	0	0
GPR63	81491	broad.mit.edu	37	6	97247016	97247016	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:97247016G>A	uc010kcl.2	-	3	1070	c.592C>T	c.(592-594)CTG>TTG	p.L198L	GPR63_uc003pou.2_Silent_p.L198L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	198	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACTGCAATCAGAACCTTAGCT	0.458		NA											5	109					0	0	0	0
LAMA4	3910	broad.mit.edu	37	6	112537671	112537671	+	Splice_Site	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:112537671C>T	uc003pvu.2	-	3	505	c.196_splice	c.e3-1	p.K66_splice	LAMA4_uc003pvv.2_Splice_Site_p.K66_splice|LAMA4_uc003pvt.2_Splice_Site_p.K66_splice|LAMA4_uc003pvw.2_Splice_Site_p.K66_splice	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATTGCATTTCTGCAACAGAC	0.393		NA											9	40					0	0	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239804	135239804	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:135239804C>T	uc003qew.2	-	7	1266	c.1213G>A	c.(1213-1215)GAA>AAA	p.E405K	ALDH8A1_uc003qex.2_Missense_Mutation_p.E351K|ALDH8A1_uc010kgh.2_Missense_Mutation_p.E183K|ALDH8A1_uc011ecx.1_Missense_Mutation_p.E355K	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	405					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACCTCCTCTTCACTATCAAAG	0.517		NA											7	74					0	0	0	0
UTRN	7402	broad.mit.edu	37	6	144772564	144772564	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:144772564C>G	uc003qkt.2	+	17	2223	c.2131C>G	c.(2131-2133)CAG>GAG	p.Q711E	UTRN_uc010khq.1_Missense_Mutation_p.Q711E	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	711	Interaction with SYNM.|Spectrin 5.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTGCCATTCAGACCACAGA	0.363		NA											7	32					0	0	0	0
ARID1B	57492	broad.mit.edu	37	6	157522076	157522076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr6:157522076G>A	uc003qqn.2	+	18	4446	c.4294G>A	c.(4294-4296)GGC>AGC	p.G1432S	ARID1B_uc003qqo.2_Missense_Mutation_p.G1392S|ARID1B_uc003qqp.2_Missense_Mutation_p.G1379S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1437					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGATGGGCGGCCCGCTGCA	0.637		NA											10	29					0	0	0	0
MICALL2	79778	broad.mit.edu	37	7	1477794	1477794	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:1477794C>T	uc003skj.3	-	12	2397	c.2250G>A	c.(2248-2250)CGG>CGA	p.R750R	MICALL2_uc003skh.3_5'UTR|MICALL2_uc003ski.3_Silent_p.R237R	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	750	Potential.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCGTCCAGCCGCCTCTCGA	0.726		NA											2	3					0	0	0	0
FOXK1	221937	broad.mit.edu	37	7	4722413	4722413	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:4722413C>T	uc003snc.1	+	1	484	c.474C>T	c.(472-474)TTC>TTT	p.F158F	FOXK1_uc003sna.1_Intron|FOXK1_uc003snb.1_Silent_p.F158F	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	158	FHA.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCGCACTTCTACCTGCGCT	0.692		NA											3	12					0	0	0	0
FOXK1	221937	broad.mit.edu	37	7	4800700	4800700	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:4800700G>C	uc003snc.1	+	8	1712	c.1702G>C	c.(1702-1704)GAG>CAG	p.E568Q	FOXK1_uc003sna.1_Missense_Mutation_p.E405Q	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	568					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGCAGGCCTGGAGGAGAAACC	0.637		NA											9	94					0	0	0	0
MACC1	346389	broad.mit.edu	37	7	20198921	20198921	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:20198921G>C	uc003sus.3	-	5	1372	c.1063C>G	c.(1063-1065)CTT>GTT	p.L355V	MACC1_uc010kug.2_Missense_Mutation_p.L355V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	355					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						GGTGACGGAAGAGCTTTAGCT	0.398		NA											3	67					0	0	0	0
NT5C3	51251	broad.mit.edu	37	7	33066516	33066516	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:33066516G>A	uc003tdk.2	-	2	242	c.165C>T	c.(163-165)TTC>TTT	p.F55F	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.F16F|NT5C3_uc003tdj.2_Silent_p.F16F	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	55					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			AACTTTTCTGGAATTCTGGCA	0.343		NA											9	60					0	0	0	0
ELMO1	9844	broad.mit.edu	37	7	37172813	37172813	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:37172813G>A	uc003tfk.1	-	14	1420	c.1113C>T	c.(1111-1113)TTC>TTT	p.F371F	ELMO1_uc011kbc.1_Silent_p.F275F|ELMO1_uc010kxg.1_Silent_p.F371F	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	371	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GAGTCTGCGTGAAGTCCATGG	0.468		NA											14	141					0	0	0	0
C7orf36	57002	broad.mit.edu	37	7	39606114	39606114	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:39606114G>C	uc003thc.3	+	1	106	c.97G>C	c.(97-99)GAA>CAA	p.E33Q		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	hypothetical protein LOC57002	33											0						GGCGCAGCGGGAATGGCAGAG	0.587		NA											5	36					0	0	0	0
CDK13	8621	broad.mit.edu	37	7	40041594	40041594	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:40041594G>C	uc003thh.3	+	5	2599	c.2317G>C	c.(2317-2319)GAT>CAT	p.D773H	CDK13_uc003thi.3_Missense_Mutation_p.D773H|CDK13_uc011kbf.1_Missense_Mutation_p.D159H	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	773	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						AATAGTGACTGATAAAGAAGA	0.323		NA											16	78					0	0	0	0
CCM2	83605	broad.mit.edu	37	7	45113081	45113081	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:45113081G>A	uc003tmo.2	+	8	972	c.826G>A	c.(826-828)GTG>ATG	p.V276M	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.V218M|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.V185M|CCM2_uc003tms.2_Missense_Mutation_p.V297M	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	276					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						ATCTGTGGATGTGGGTGGTGC	0.587		NA							Familial_Cerebral_Cavernous_Angioma				5	30					0	0	0	0
STYXL1	51657	broad.mit.edu	37	7	75643194	75643194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:75643194G>A	uc003uej.3	-	5	492	c.319C>T	c.(319-321)CAA>TAA	p.Q107*	STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_5'UTR|STYXL1_uc003ueh.2_Intron|STYXL1_uc003uek.3_Intron|STYXL1_uc003uel.2_Nonsense_Mutation_p.Q107*|STYXL1_uc003uem.2_Nonsense_Mutation_p.Q107*|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Nonsense_Mutation_p.Q107*|STYXL1_uc003uen.1_Nonsense_Mutation_p.Q107*	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	107	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						ATGGCTGCTTGAGGCACAAGA	0.522		NA											23	129					0	0	0	0
SRRM3	222183	broad.mit.edu	37	7	75896598	75896598	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:75896598G>A	uc010ldi.2	+	11	1062	c.853G>A	c.(853-855)GAA>AAA	p.E285K	SRRM3_uc011kgi.1_5'UTR	NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						GCACCGAGACGAAGGGCGAAA	0.706		NA											4	13					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82453635	82453635	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:82453635T>C	uc003uhx.2	-	19	14802	c.14513A>G	c.(14512-14514)CAT>CGT	p.H4838R	PCLO_uc003uhv.2_Missense_Mutation_p.H4838R|PCLO_uc003uht.1_Missense_Mutation_p.H280R|PCLO_uc003uhu.1_Missense_Mutation_p.H259R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4700	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGACTGGAATGAGACTTGCC	0.433		NA											9	38					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91726162	91726162	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:91726162G>C	uc003ulg.2	+	41	10114	c.9889G>C	c.(9889-9891)GAG>CAG	p.E3297Q	AKAP9_uc003ulf.2_Missense_Mutation_p.E3289Q|AKAP9_uc003uli.2_Missense_Mutation_p.E2920Q|AKAP9_uc003ulj.2_Missense_Mutation_p.E1067Q|AKAP9_uc003ull.2_Missense_Mutation_p.E193Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3301	Potential.		E -> Q (in a breast cancer sample; somatic mutation).		G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E3301Q(1)		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)			TCGAAACTTAGAGCTTCAGGT	0.438		NA	T	BRAF	papillary thyroid								13	72					0	0	0	0
SAMD9	54809	broad.mit.edu	37	7	92731898	92731898	+	Silent	SNP	T	T	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:92731898T>C	uc003umf.2	-	3	3769	c.3513A>G	c.(3511-3513)GAA>GAG	p.E1171E	SAMD9_uc003umg.2_Silent_p.E1171E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1171						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTCTCTATCTTCACTTTGCT	0.393		NA											25	163					0	0	0	0
TAF6	6878	broad.mit.edu	37	7	99705659	99705659	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:99705659G>A	uc003uti.2	-	14	1627	c.1546C>T	c.(1546-1548)CCT>TCT	p.P516S	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.P438S|TAF6_uc003uth.2_Missense_Mutation_p.P573S|TAF6_uc003utk.2_Missense_Mutation_p.P516S|TAF6_uc011kji.1_Missense_Mutation_p.P553S|TAF6_uc003utj.2_Missense_Mutation_p.P506S|TAF6_uc003utl.2_Missense_Mutation_p.P506S|TAF6_uc003utm.2_Missense_Mutation_p.P516S	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	516					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCTGGACAGGAAGTGCGATG	0.647		NA											5	46					0	0	0	0
TFR2	7036	broad.mit.edu	37	7	100229801	100229801	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:100229801G>A	uc003uvv.1	-	7	911	c.870C>T	c.(868-870)TTC>TTT	p.F290F	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.F119F	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	290	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTGAGCCCCGAAGTCCTGAG	0.557		NA											18	87					0	0	0	0
PRSS1	5644	broad.mit.edu	37	7	142460822	142460822	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:142460822T>G	uc003wak.2	+	5	712	c.695T>G	c.(694-696)GTC>GGC	p.V232G	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.V172G	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	232	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TACACCAAGGTCTACAACTAT	0.488		NA							Hereditary_Pancreatitis				16	66					0	0	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164001	150164001	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:150164001C>T	uc003whj.2	+	2	545	c.215C>T	c.(214-216)TCA>TTA	p.S72L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	72						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTTTTCTCCTCAATAGCTTGT	0.493		NA											26	140					0	0	0	0
ATG9B	285973	broad.mit.edu	37	7	150713883	150713883	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr7:150713883G>A	uc011kvc.1	-	12	2392	c.2316C>T	c.(2314-2316)TTC>TTT	p.F772F	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	772	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGGTGCACGAAGAGGTTGG	0.612		NA											6	21					0	0	0	0
DUSP26	78986	broad.mit.edu	37	8	33454978	33454978	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:33454978C>T	uc003xjp.2	-	2	389	c.56G>A	c.(55-57)CGG>CAG	p.R19Q	DUSP26_uc003xjq.2_Missense_Mutation_p.R19Q	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	19						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGAGCTACTCCGGGAGAAGCG	0.557		NA											9	51					0	0	0	0
GPR124	25960	broad.mit.edu	37	8	37690552	37690552	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:37690552C>G	uc003xkj.2	+	9	1485	c.1122C>G	c.(1120-1122)ATC>ATG	p.I374M	GPR124_uc010lvy.2_Missense_Mutation_p.I374M	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	374	Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCTGGCATCACAGCCTACC	0.667		NA											15	134					0	0	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611780	42611780	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:42611780G>C	uc003xpj.2	-	5	608	c.562C>G	c.(562-564)CTT>GTT	p.L188V	CHRNA6_uc011lcw.1_Missense_Mutation_p.L173V	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	188	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATGATTAGAAGATCAATTTCA	0.363		NA											5	68					0	0	0	0
CHD7	55636	broad.mit.edu	37	8	61736506	61736506	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:61736506C>T	uc003xue.2	+	13	3786	c.3309C>T	c.(3307-3309)GTC>GTT	p.V1103V	CHD7_uc003xuf.2_Silent_p.V216V	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1103	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGTGTAGTCATTGATGAAG	0.453		NA											13	118					0	0	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577807	67577807	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:67577807C>G	uc003xwn.2	-	1	1646	c.1387G>C	c.(1387-1389)GAT>CAT	p.D463H	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	463					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGGCGATTATCCATTACTGCT	0.453		NA											30	233					0	0	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885717	88885717	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:88885717C>T	uc003ydz.2	-	1	580	c.483G>A	c.(481-483)GCG>GCA	p.A161A		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	161										ovary(1)	1						TGAACAGCGACGCTGGGAGCA	0.567		NA											41	61					0	0	0	0
OSGIN2	734	broad.mit.edu	37	8	90937302	90937302	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:90937302C>T	uc003yeg.2	+	6	1406	c.1060C>T	c.(1060-1062)CAT>TAT	p.H354Y	OSGIN2_uc003yeh.2_Missense_Mutation_p.H398Y	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	354					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGAATATCATAAAGTCTA	0.368		NA											15	131					0	0	0	0
RGS22	26166	broad.mit.edu	37	8	100975155	100975155	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:100975155G>C	uc003yjb.1	-	25	3862	c.3667C>G	c.(3667-3669)CTT>GTT	p.L1223V	RGS22_uc003yja.1_Missense_Mutation_p.L1042V|RGS22_uc003yjc.1_Missense_Mutation_p.L1211V	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1223					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTTAAGAAGAATTCTCTCC	0.308		NA											4	35					0	0	0	0
FAM91A1	157769	broad.mit.edu	37	8	124801858	124801858	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:124801858G>C	uc003yqv.2	+	15	1345	c.1284G>C	c.(1282-1284)CAG>CAC	p.Q428H	FAM91A1_uc011lik.1_Missense_Mutation_p.Q428H|FAM91A1_uc011lil.1_Missense_Mutation_p.Q186H	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	428										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTTAGGTTCAGAGCACTGGTG	0.333		NA											11	69					0	0	0	0
COL22A1	169044	broad.mit.edu	37	8	139890087	139890087	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:139890087G>A	uc003yvd.2	-	3	1011	c.564C>T	c.(562-564)ATC>ATT	p.I188I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	188	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTCTGAGGCGATCTCCTCCA	0.652		NA								HNSCC(7;0.00092)			6	34					0	0	0	0
C8orf31	286122	broad.mit.edu	37	8	144124445	144124445	+	Silent	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr8:144124445C>G	uc003yxp.1	+	2	379	c.27C>G	c.(25-27)TCC>TCG	p.S9S	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_Intron	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	9										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCAGAATTCCTGCAATTCAG	0.582		NA											11	116					0	0	0	0
C9orf66	157983	broad.mit.edu	37	9	214662	214662	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:214662G>A	uc003zge.3	-	1	1232	c.735C>T	c.(733-735)CTC>CTT	p.L245L	DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	hypothetical protein LOC157983	245	Arg-rich.									central_nervous_system(1)	1	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCTTCGGCCGGAGGTCGGCGG	0.751		NA											3	4					0	0	0	0
GLDC	2731	broad.mit.edu	37	9	6605142	6605142	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:6605142G>A	uc003zkc.2	-	6	1043	c.850C>T	c.(850-852)CAT>TAT	p.H284Y		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	284					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCACTCTGATGAGCTCTCTCC	0.502		NA											12	56					0	0	0	0
C9orf150	286343	broad.mit.edu	37	9	12821469	12821469	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:12821469G>C	uc003zkw.2	+	2	1100	c.397G>C	c.(397-399)GAA>CAA	p.E133Q		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	136											0				GBM - Glioblastoma multiforme(1;1.64e-13)		GTGGATGATCGAAGAAAAAGC	0.517		NA											16	69					0	0	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34635701	34635701	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:34635701G>C	uc003zvb.2	-	4	674	c.600C>G	c.(598-600)TTC>TTG	p.F200L	SIGMAR1_uc003zva.3_Missense_Mutation_p.F180L|SIGMAR1_uc003zuz.2_Missense_Mutation_p.F111L|SIGMAR1_uc003zvc.2_Missense_Mutation_p.F169L|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	200	Cytoplasmic (Potential).				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding				0					Dextromethorphan(DB00514)	GAAGAGTATAGAAGAGGGTGA	0.622		NA											9	34					0	0	0	0
FBXO10	26267	broad.mit.edu	37	9	37512610	37512610	+	Silent	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:37512610C>T	uc004aab.2	-	11	2854	c.2805G>A	c.(2803-2805)ACG>ACA	p.T935T	FBXO10_uc004aac.2_Silent_p.T951T|FBXO10_uc004aad.2_Silent_p.T485T	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	935						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CTGTGATCCTCGTTGCCATGG	0.607		NA											14	117					0	0	0	0
NAA35	60560	broad.mit.edu	37	9	88557141	88557141	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:88557141G>C	uc004aoi.3	+	2	204	c.67G>C	c.(67-69)GAG>CAG	p.E23Q	NAA35_uc004aoj.3_Missense_Mutation_p.E23Q|NAA35_uc004aok.1_Missense_Mutation_p.E23Q	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	corneal wound healing-related protein	23					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				skin(2)|central_nervous_system(1)	3						AGAAAAAATGGAGAAAAGCAA	0.398		NA											12	77					0	0	0	0
NCBP1	4686	broad.mit.edu	37	9	100412873	100412873	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:100412873G>C	uc004axq.2	+	9	1445	c.986G>C	c.(985-987)AGG>ACG	p.R329T		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	329					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				TGGAAGGAAAGGAAGACTTGG	0.378		NA											20	149					0	0	0	0
RABEPK	10244	broad.mit.edu	37	9	127982928	127982928	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:127982928G>C	uc004bpi.2	+	6	648	c.475G>C	c.(475-477)GAG>CAG	p.E159Q	RABEPK_uc004bph.1_3'UTR|RABEPK_uc004bpj.2_Missense_Mutation_p.E108Q|RABEPK_uc004bpk.2_Missense_Mutation_p.E159Q|RABEPK_uc004bpl.1_Missense_Mutation_p.E108Q|RABEPK_uc004bpm.2_Missense_Mutation_p.E159Q	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	159	Kelch 3.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						TGGGGGCGGAGAGAGAGGTGC	0.587		NA											8	60					0	0	0	0
NUP214	8021	broad.mit.edu	37	9	134014764	134014764	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:134014764G>T	uc004cag.2	+	10	1213	c.1102G>T	c.(1102-1104)GAC>TAC	p.D368Y	NUP214_uc004cah.2_Missense_Mutation_p.D368Y|NUP214_uc004caf.1_Missense_Mutation_p.D368Y	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	368					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTTGTCGTAGACTATACAAA	0.418		NA	T	DEK|SET|ABL1	AML|T-ALL								10	41					9.31e-06	1e-05	1	0
C9orf163	158055	broad.mit.edu	37	9	139379468	139379468	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:139379468C>A	uc004chy.2	+	1	1522	c.568C>A	c.(568-570)CTA>ATA	p.L190I	SEC16A_uc004chx.2_5'Flank|SEC16A_uc010nbo.1_5'Flank	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN	hypothetical protein LOC158055	190							protein binding				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GCTCGACCCTCTAGGGTCCTC	0.607		NA									OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					3.6e-05	3.86e-05	1	0
TMEM203	94107	broad.mit.edu	37	9	140099678	140099678	+	Silent	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr9:140099678G>A	uc004clv.2	-	1	413	c.189C>T	c.(187-189)TTC>TTT	p.F63F	NDOR1_uc004clx.2_5'Flank|NDOR1_uc004clw.2_5'Flank|NDOR1_uc011mes.1_5'Flank|NDOR1_uc004cly.2_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	transmembrane protein 203	63	Helical; (Potential).					integral to membrane					0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGATGGTGGTGAAGTAGGTGC	0.617		NA											4	21					0	0	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821900	5821900	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:5821900G>C	uc010ndh.2	-	5	1320	c.819C>G	c.(817-819)TTC>TTG	p.F273L	NLGN4X_uc004crp.2_Missense_Mutation_p.F293L|NLGN4X_uc004crq.2_Missense_Mutation_p.F273L|NLGN4X_uc010ndi.2_Missense_Mutation_p.F310L|NLGN4X_uc004crr.2_Missense_Mutation_p.F273L|NLGN4X_uc010ndj.2_Missense_Mutation_p.F273L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	273	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						TGGCCTTCTGGAAGAGACCTG	0.527		NA											9	66					0	0	0	0
TBL1X	6907	broad.mit.edu	37	X	9683006	9683006	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:9683006G>A	uc010ndq.2	+	17	2038	c.1670G>A	c.(1669-1671)CGA>CAA	p.R557Q	TBL1X_uc004csq.3_Missense_Mutation_p.R506Q|TBL1X_uc010ndr.2_Missense_Mutation_p.R506Q|TBL1X_uc004csr.2_Missense_Mutation_p.R557Q|TBL1X_uc004css.2_Missense_Mutation_p.R508Q	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	557	WD 8.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				TGGAACGCCCGAGGAGACAAA	0.587		NA											8	29					0	0	0	0
OFD1	8481	broad.mit.edu	37	X	13778324	13778324	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:13778324A>T	uc004cvp.3	+	16	2104	c.1745A>T	c.(1744-1746)AAT>ATT	p.N582I	OFD1_uc004cvr.3_Missense_Mutation_p.N149I|OFD1_uc011mil.1_Missense_Mutation_p.N149I|OFD1_uc004cvq.3_Missense_Mutation_p.N442I|OFD1_uc010nen.2_Missense_Mutation_p.N581I|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.N541I|OFD1_uc004cvv.3_Missense_Mutation_p.N541I	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	582					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						GTGCCTTGCAATGGTGAGATA	0.423		NA											19	108					0	0	0	0
ACE2	59272	broad.mit.edu	37	X	15584408	15584408	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:15584408G>C	uc004cxa.1	-	16	2250	c.2082C>G	c.(2080-2082)ATC>ATG	p.I694M	ACE2_uc004cxb.2_Missense_Mutation_p.I694M	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	694	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	TTCTAGGAATGATATCAGACA	0.353		NA											34	171					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53589797	53589797	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:53589797C>T	uc004dsp.2	-	53	7601	c.7199G>A	c.(7198-7200)CGA>CAA	p.R2400Q	HUWE1_uc004dsn.2_Missense_Mutation_p.R1224Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2400	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CTCACCTTCTCGGTTGGCCTG	0.562		NA											17	84					0	0	0	0
WNK3	65267	broad.mit.edu	37	X	54321097	54321097	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:54321097G>C	uc004dtd.1	-	8	2021	c.1582C>G	c.(1582-1584)CTT>GTT	p.L528V	WNK3_uc004dtc.1_Missense_Mutation_p.L528V	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	528					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						GCGGGAGCAAGGGGTAAAGTT	0.478		NA											9	38					0	0	0	0
ATP7A	538	broad.mit.edu	37	X	77301958	77301958	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:77301958A>G	uc004ecx.3	+	23	4554	c.4394A>G	c.(4393-4395)AAC>AGC	p.N1465S		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1465	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						GCCTCTATAAACTCACTACTG	0.438		NA											60	239					0	0	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008988	88008988	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:88008988G>C	uc004efd.3	+	3	832	c.573G>C	c.(571-573)GAG>GAC	p.E191D	CPXCR1_uc004efc.3_Missense_Mutation_p.E191D	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	191						intracellular	zinc ion binding			ovary(3)	3						CCCATCACGAGAGAGCCATAA	0.423		NA											5	37					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134270	91134270	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:91134270C>G	uc004efk.1	+	2	3876	c.3031C>G	c.(3031-3033)CCG>GCG	p.P1011A	PCDH11X_uc004efl.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efo.1_Missense_Mutation_p.P1011A|PCDH11X_uc010nmv.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efm.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efn.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efh.1_Missense_Mutation_p.P1011A|PCDH11X_uc004efj.1_Missense_Mutation_p.P1011A	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1011	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						ACACACCAGACCGGTAGGTAT	0.403		NA											18	94					0	0	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911437	100911437	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chrX:100911437C>G	uc004eid.2	-	3	1493	c.1138G>C	c.(1138-1140)GAT>CAT	p.D380H	ARMCX2_uc004eie.3_Missense_Mutation_p.D380H|ARMCX2_uc004eif.3_Missense_Mutation_p.D380H|ARMCX2_uc004eig.3_Missense_Mutation_p.D380H|ARMCX2_uc010nnt.2_Missense_Mutation_p.D380H	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	380	ARM 1.					integral to membrane	binding			ovary(6)	6						AGAATCTCATCAATTTCATAA	0.517		NA											17	79					0	0	0	0
R3HDML	140902	broad.mit.edu	37	20	42965898	42965898	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr20:42965898delC	uc002xls.1	+	1	273	c.101delC	c.(100-102)GCCfs	p.A34fs		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	34						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGCCCCGGCCCAGCCCGAG	0.647		NA											13	74	---	---	---	---	NA	NA	NA	NA
ZNF608	57507	broad.mit.edu	37	5	123984449	123984449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6484-01A-11D-1870-08	TCGA-CR-6484-10A-01D-1870-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e72df726-1575-4789-afac-3b15a7643401	b0fa7dd3-58da-45b8-bff4-1d665e21df9f	g.chr5:123984449delA	uc003ktq.1	-	4	1751	c.1628delT	c.(1627-1629)TTGfs	p.L543fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.L543fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.L543fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	543						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTTGGTCCAAAAAAGTAGT	0.502		NA											7	191	---	---	---	---	NA	NA	NA	NA
