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
FCN3	8547	broad.mit.edu	37	1	27697413	27697413	+	Silent	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:27697413G>A	uc001boa.2	-	6	450	c.444C>T	c.(442-444)TCC>TCT	p.S148S	FCN3_uc001bob.2_Silent_p.S137S	NM_003665	NP_003656	O75636	FCN3_HUMAN	ficolin 3 isoform 1 precursor	148	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding				0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGTAGGAGGACCAAGAGC	0.562		NA											11	64					0	0	0	0
C1orf94	84970	broad.mit.edu	37	1	34666421	34666421	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:34666421T>C	uc001bxs.3	+	3	887	c.488T>C	c.(487-489)TTT>TCT	p.F163S	C1orf94_uc001bxt.2_Missense_Mutation_p.F353S	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	163							protein binding				0		Myeloproliferative disorder(586;0.0393)				GGGAGCCTCTTTCTCAGCCAG	0.582		NA											7	61					0	0	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904863	205904863	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr1:205904863C>T	uc001hdq.2	-	2	200	c.86G>A	c.(85-87)CGG>CAG	p.R29Q	SLC26A9_uc001hdp.2_Missense_Mutation_p.R29Q	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	29						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGGGTATGTCCGGTCCTTCTT	0.547		NA											14	90					0	0	0	0
IDE	3416	broad.mit.edu	37	10	94268582	94268582	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:94268582G>C	uc001kia.2	-	7	1039	c.963C>G	c.(961-963)GAC>GAG	p.D321E		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	321					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTTCTGAAGGTCAGGTATGG	0.363		NA											11	112					0	0	0	0
COL17A1	1308	broad.mit.edu	37	10	105821185	105821185	+	Silent	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:105821185G>A	uc001kxr.2	-	13	1126	c.957C>T	c.(955-957)AAC>AAT	p.N319N	COL17A1_uc010qqv.1_Silent_p.N303N	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	319	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAACGCCAGTGTTCACAGCCG	0.577		NA											5	25					0	0	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115601164	115601164	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:115601164C>G	uc001law.2	-	7	3738	c.2820_splice	c.e7+1	p.K940_splice		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A						cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAATGCTTACCTTAAAATTA	0.323		NA						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					4	48					0	0	0	0
DMBT1	1755	broad.mit.edu	37	10	124389869	124389869	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr10:124389869G>A	uc001lgk.1	+	45	5607	c.5501G>A	c.(5500-5502)AGT>AAT	p.S1834N	DMBT1_uc001lgl.1_Missense_Mutation_p.S1824N|DMBT1_uc001lgm.1_Missense_Mutation_p.S1206N|DMBT1_uc009xzz.1_Missense_Mutation_p.S1834N|DMBT1_uc010qtx.1_Missense_Mutation_p.S554N|DMBT1_uc009yab.1_Missense_Mutation_p.S537N|DMBT1_uc009yac.1_Missense_Mutation_p.S128N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1834	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGAATAGCAGTCTCCTGCTG	0.368		NA											4	60					0	0	0	0
CCKBR	887	broad.mit.edu	37	11	6290927	6290927	+	Silent	SNP	T	T	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:6290927T>G	uc001mcp.2	+	2	373	c.180T>G	c.(178-180)CTT>CTG	p.L60L	CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Silent_p.L60L|CCKBR_uc001mcs.2_Silent_p.L60L	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	60	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAATCACTCTTTACGCAGTGA	0.532		NA											7	71					0	0	0	0
DAK	26007	broad.mit.edu	37	11	61105464	61105464	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:61105464G>A	uc001nre.2	+	3	312	c.55G>A	c.(55-57)GCT>ACT	p.A19T	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_5'UTR	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	19	DhaK.			A -> S (in Ref. 3; BAD97300).	glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						TGACGCTCTTGCTGGCCTGGT	0.622		NA											17	95					0	0	0	0
CDK2AP2	10263	broad.mit.edu	37	11	67274859	67274859	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:67274859C>T	uc001oma.2	-	3	839	c.290G>A	c.(289-291)AGC>AAC	p.S97N	PITPNM1_uc001oly.2_5'Flank|PITPNM1_uc001olz.2_5'Flank|CDK2AP2_uc009yry.2_RNA|CDK2AP2_uc001omb.2_Missense_Mutation_p.S106N	NM_005851	NP_005842	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	97											0						CTCCATGGCGCTCTTGCTGCC	0.607		NA											12	92					0	0	0	0
ZW10	9183	broad.mit.edu	37	11	113609058	113609058	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr11:113609058T>A	uc001poe.2	-	13	1849	c.1812A>T	c.(1810-1812)TTA>TTT	p.L604F	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	604					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TAGCACTTGATAATCTTTCCA	0.403		NA											11	49					0	0	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871015	12871015	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:12871015A>G	uc001rat.2	+	1	714	c.242A>G	c.(241-243)AAG>AGG	p.K81R		NM_004064	NP_004055	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B	81					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			ovary(1)|lung(1)	2		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGGTGGAGAAGGGCAGCTTG	0.612		NA							Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4				9	86					0	0	0	0
IFLTD1	160492	broad.mit.edu	37	12	25671777	25671777	+	Silent	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:25671777A>G	uc001rgs.2	-	7	1228	c.1078T>C	c.(1078-1080)TTG>CTG	p.L360L	IFLTD1_uc001rgt.1_Silent_p.L263L|IFLTD1_uc010sji.1_Silent_p.L381L|IFLTD1_uc010sjj.1_Silent_p.L297L|IFLTD1_uc009zjc.2_Silent_p.L341L	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	360						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGTCTATCCAATCTGCCTCCA	0.517		NA									OREG0031252	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	6	73					0	0	0	0
CORO1C	23603	broad.mit.edu	37	12	109051107	109051107	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:109051107G>C	uc001tnj.2	-	6	819	c.723C>G	c.(721-723)AGC>AGG	p.S241R	CORO1C_uc009zva.2_Missense_Mutation_p.S294R|CORO1C_uc010sxf.1_Missense_Mutation_p.S204R	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	241					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						GCTGCCGCTCGCTCATGCGGC	0.562		NA											9	60					0	0	0	0
OAS1	4938	broad.mit.edu	37	12	113348885	113348885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:113348885C>T	uc001tud.2	+	3	605	c.499C>T	c.(499-501)CCC>TCC	p.P167S	OAS1_uc010syn.1_Missense_Mutation_p.P166S|OAS1_uc010syo.1_Intron|OAS1_uc001tub.2_Missense_Mutation_p.P167S|OAS1_uc001tuc.2_Missense_Mutation_p.P167S|OAS1_uc009zwf.2_Missense_Mutation_p.P166S	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	167					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						TAAACCTAACCCCCAAATCTA	0.498		NA											3	30					0	0	0	0
POP5	51367	broad.mit.edu	37	12	121017178	121017178	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:121017178G>T	uc001tys.2	-	5	467	c.435C>A	c.(433-435)AGC>AGA	p.S145R	POP5_uc001tyt.2_Missense_Mutation_p.S95R	NM_015918	NP_057002	Q969H6	POP5_HUMAN	processing of precursor 5 isoform a	145					tRNA processing		protein binding|ribonuclease P activity				0	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CTAATAAGCAGCTTCTTGTCA	0.512		NA											9	83					0.00448238	0.00487706	1	0
PITPNM2	57605	broad.mit.edu	37	12	123475222	123475222	+	Silent	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr12:123475222T>C	uc001uej.1	-	16	2578	c.2439A>G	c.(2437-2439)CAA>CAG	p.Q813Q	PITPNM2_uc001uek.1_Silent_p.Q861Q	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	813	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGCCATGCTCTTGGAAGGCTG	0.672		NA											3	31					0	0	0	0
BRCA2	675	broad.mit.edu	37	13	32913306	32913306	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr13:32913306T>A	uc001uub.1	+	11	5041	c.4814T>A	c.(4813-4815)GTT>GAT	p.V1605D		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1605					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAACCTTGTTTCTATTGAG	0.343		NA	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			4	75					0	0	0	0
OR4K15	81127	broad.mit.edu	37	14	20443692	20443692	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:20443692A>C	uc010tkx.1	+	1	15	c.15A>C	c.(13-15)TTA>TTC	p.L5F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTTCATTAACTGATCTCT	0.363		NA											3	57					0	0	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779905	20779905	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:20779905T>C	uc001vwv.2	-	7	1287	c.638A>G	c.(637-639)AAC>AGC	p.N213S	CCNB1IP1_uc001vww.2_Missense_Mutation_p.N213S|CCNB1IP1_uc001vwx.2_Missense_Mutation_p.N213S|CCNB1IP1_uc001vwy.2_Missense_Mutation_p.N213S|CCNB1IP1_uc001vwz.2_Missense_Mutation_p.N213S	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1 isoform 3	213						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	soft_tissue(2)|ovary(1)	3	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AAACTTGGAGTTGTTACCTAG	0.343		NA	T	HMGA2	leiomyoma								8	51					0	0	0	0
SCFD1	23256	broad.mit.edu	37	14	31122764	31122764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr14:31122764G>A	uc001wqm.1	+	10	849	c.825G>A	c.(823-825)TGG>TGA	p.W275*	SCFD1_uc001wqn.1_Nonsense_Mutation_p.W208*|SCFD1_uc010tpg.1_Nonsense_Mutation_p.W216*|SCFD1_uc010tph.1_Nonsense_Mutation_p.W90*|SCFD1_uc010amf.1_Nonsense_Mutation_p.W90*|SCFD1_uc010tpi.1_Nonsense_Mutation_p.W183*|SCFD1_uc010amd.1_Nonsense_Mutation_p.W107*|SCFD1_uc010ame.1_Nonsense_Mutation_p.W208*	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	275					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATCATACTTGGACATATCAAG	0.328		NA											5	91					0	0	0	0
HERPUD1	9709	broad.mit.edu	37	16	56973962	56973962	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:56973962A>T	uc002eke.1	+	6	1119	c.710A>T	c.(709-711)AAT>ATT	p.N237I	HERPUD1_uc002ekf.1_Missense_Mutation_p.N236I|HERPUD1_uc002ekg.1_Missense_Mutation_p.N212I|HERPUD1_uc010cco.1_Missense_Mutation_p.N298I|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_Missense_Mutation_p.N55I	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	237	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0						GTGGTTGTTAATCCTGGAGCC	0.463		NA	T	ERG	prostate								4	29					0	0	0	0
WWOX	51741	broad.mit.edu	37	16	78466645	78466645	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:78466645C>A	uc002ffk.2	+	8	1177	c.1052C>A	c.(1051-1053)TCC>TAC	p.S351Y	WWOX_uc010vnk.1_Missense_Mutation_p.S238Y|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	351	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTCACCAAGTCCATGGTAAGA	0.512		NA											16	207					4.15e-12	5.02e-12	1	0
ZNF276	92822	broad.mit.edu	37	16	89789965	89789965	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr16:89789965C>T	uc002fos.3	+	4	951	c.854C>T	c.(853-855)ACC>ATC	p.T285I	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_Missense_Mutation_p.P82S|ZNF276_uc002fop.2_Missense_Mutation_p.P204S|ZNF276_uc002foq.3_Missense_Mutation_p.T210I|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.P82S|ZNF276_uc010cis.2_Missense_Mutation_p.T44I|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.T123I|ZNF276_uc010cit.1_Missense_Mutation_p.T44I	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCCCTCAGACCTCCCAGGGT	0.677		NA											5	48					0	0	0	0
COPS3	8533	broad.mit.edu	37	17	17150427	17150427	+	Silent	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr17:17150427T>A	uc002grd.2	-	12	1348	c.1257A>T	c.(1255-1257)CCA>CCT	p.P419P	COPS3_uc010vwv.1_Silent_p.P399P|COPS3_uc010vww.1_Silent_p.P289P	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN	COP9 constitutive photomorphogenic homolog	419					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			skin(1)	1						AATAACTGGATGGTTTGTTTC	0.438		NA											4	116					0	0	0	0
TNS4	84951	broad.mit.edu	37	17	38634851	38634851	+	Missense_Mutation	SNP	T	T	A	rs147778475		TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr17:38634851T>A	uc010cxb.2	-	11	2124	c.1960A>T	c.(1960-1962)ATG>TTG	p.M654L	TNS4_uc002huu.3_Missense_Mutation_p.M67L	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	654	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)			TCAGGGTCCATACCACAGAAG	0.617		NA											8	59					0	0	0	0
ALPK2	115701	broad.mit.edu	37	18	56204982	56204982	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr18:56204982C>T	uc002lhj.3	-	5	2651	c.2437G>A	c.(2437-2439)GGA>AGA	p.G813R	ALPK2_uc002lhk.1_Missense_Mutation_p.G144R	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	813							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						AAACACGTTCCTTGGTCACCA	0.463		NA											7	55					0	0	0	0
PLD3	23646	broad.mit.edu	37	19	40872532	40872532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr19:40872532G>T	uc002onm.3	+	4	441	c.43G>T	c.(43-45)GAG>TAG	p.E15*	PLD3_uc002onj.3_Nonsense_Mutation_p.E15*|PLD3_uc002onk.3_Nonsense_Mutation_p.E15*|PLD3_uc002onl.3_Nonsense_Mutation_p.E15*|PLD3_uc002onn.2_Nonsense_Mutation_p.E15*|PLD3_uc002ono.2_Nonsense_Mutation_p.E15*	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	15	Cytoplasmic (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGTGCCTGCAGAGGAGCCCGC	0.632		NA											5	81					2.01e-06	2.32e-06	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55341406	55341406	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr19:55341406C>T	uc002qhk.3	+	8	1192	c.1129C>T	c.(1129-1131)CCT>TCT	p.P377S	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P302S|KIR3DL1_uc010esf.2_Missense_Mutation_p.P282S|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P319S|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	377	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GGACCAAGAGCCTGCAGGGAA	0.532		NA											14	112					0	0	0	0
GALNT13	114805	broad.mit.edu	37	2	155158099	155158099	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:155158099C>T	uc002tyr.3	+	9	1720	c.1153C>T	c.(1153-1155)CCA>TCA	p.P385S	GALNT13_uc002tyt.3_Missense_Mutation_p.P385S|GALNT13_uc010foc.1_Missense_Mutation_p.P204S|GALNT13_uc010fod.2_Missense_Mutation_p.P138S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	385	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CATCATATCCCCAGGTACACA	0.348		NA											6	99					0	0	0	0
XIRP2	129446	broad.mit.edu	37	2	167760367	167760367	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:167760367G>C	uc002udx.2	+	1	393	c.375G>C	c.(373-375)AAG>AAC	p.K125N	XIRP2_uc010fpn.2_Missense_Mutation_p.K125N|XIRP2_uc010fpo.2_Missense_Mutation_p.K125N|XIRP2_uc010fpp.2_Missense_Mutation_p.K125N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGGCTCCTAAGAGTGGAAACA	0.483		NA											6	51					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179404673	179404673	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:179404673C>G	uc010zfg.1	-	301	90639	c.90415G>C	c.(90415-90417)GAT>CAT	p.D30139H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D23834H|TTN_uc010zfi.1_Missense_Mutation_p.D23767H|TTN_uc010zfj.1_Missense_Mutation_p.D23642H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31066							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)			TATCTTTCATCAAGTTCATAA	0.373		NA											4	70					0	0	0	0
VIL1	7429	broad.mit.edu	37	2	219299377	219299377	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:219299377T>G	uc002via.2	+	14	1694	c.1629T>G	c.(1627-1629)AAT>AAG	p.N543K	VIL1_uc010zke.1_Missense_Mutation_p.N232K|VIL1_uc002vib.2_Missense_Mutation_p.N543K	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	543	Gelsolin-like 5.|Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAATTCCAATGATGTCTTTG	0.582		NA											14	94					0	0	0	0
GIGYF2	26058	broad.mit.edu	37	2	233671317	233671317	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr2:233671317A>T	uc002vti.3	+	17	2093	c.1756A>T	c.(1756-1758)ATG>TTG	p.M586L	GIGYF2_uc010zmj.1_Missense_Mutation_p.M586L|GIGYF2_uc002vtg.2_Missense_Mutation_p.M580L|GIGYF2_uc002vtj.3_Missense_Mutation_p.M607L|GIGYF2_uc002vtk.3_Missense_Mutation_p.M586L|GIGYF2_uc002vth.3_Missense_Mutation_p.M580L|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.M417L	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	586					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TATCATGAAAATGTGGGGAAG	0.463		NA											10	106					0	0	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470519	470519	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr20:470519C>T	uc002wdw.1	-	10	1021	c.628G>A	c.(628-630)GAT>AAT	p.D210N	CSNK2A1_uc002wdx.1_Missense_Mutation_p.D210N|CSNK2A1_uc002wdy.1_Missense_Mutation_p.D74N	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	210	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AAACTATAATCGTACATCTGC	0.318		NA											3	47					0	0	0	0
FAM65C	140876	broad.mit.edu	37	20	49204362	49204362	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr20:49204362G>T	uc002xvm.2	-	21	3035	c.2717C>A	c.(2716-2718)GCC>GAC	p.A906D	FAM65C_uc010zyt.1_Missense_Mutation_p.A910D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	906										ovary(2)	2						GGTTTCCCGGGCTGCCGCCCG	0.592		NA									OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0.000157383	0.000173422	1	0
CARD10	29775	broad.mit.edu	37	22	37914082	37914082	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr22:37914082T>A	uc003asx.1	-	2	272	c.269A>T	c.(268-270)AAG>ATG	p.K90M	CARD10_uc003ast.1_RNA|CARD10_uc003asy.1_Missense_Mutation_p.K90M	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	90	CARD.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)					ATAGCCCCTCTTGCCACGGCA	0.627		NA											6	49					0	0	0	0
SLC2A9	56606	broad.mit.edu	37	4	9998412	9998412	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:9998412G>T	uc003gmc.2	-	3	464	c.403C>A	c.(403-405)CTT>ATT	p.L135I	SLC2A9_uc003gmd.2_Missense_Mutation_p.L106I	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	135	Cytoplasmic (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						GACCTCCCAAGAACCTTTCCA	0.498		NA											6	23					3.6e-05	4.04e-05	1	0
CLOCK	9575	broad.mit.edu	37	4	56316289	56316289	+	Silent	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:56316289T>C	uc003haz.1	-	17	2243	c.1317A>G	c.(1315-1317)AAA>AAG	p.K439K	CLOCK_uc003hba.1_Silent_p.K439K|CLOCK_uc010igu.1_5'Flank	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	439					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGTGAGATGATTTTCTTGAAC	0.433		NA											5	46					0	0	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109667916	109667916	+	Splice_Site	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr4:109667916A>C	uc003hzc.2	-	10	1353	c.1172_splice	c.e10+1	p.K391_splice	AGXT2L1_uc010imc.2_Splice_Site_p.K385_splice|AGXT2L1_uc011cfm.1_Splice_Site_p.K351_splice|AGXT2L1_uc011cfn.1_Splice_Site_p.K318_splice|AGXT2L1_uc011cfo.1_Splice_Site_p.K333_splice	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1						cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		GGGGTGAATTACTTGTAGATG	0.488		NA											19	223					0	0	0	0
C5orf22	55322	broad.mit.edu	37	5	31541084	31541084	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:31541084A>G	uc003jhj.3	+	5	963	c.836A>G	c.(835-837)TAC>TGC	p.Y279C	C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.3_Missense_Mutation_p.Y14C	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	279										ovary(2)	2						CAAGAGCTGTACCAATTTAAG	0.294		NA											7	66					0	0	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215046	140215046	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:140215046C>A	uc003lhq.2	+	1	1078	c.1078C>A	c.(1078-1080)CCA>ACA	p.P360T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P360T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	360	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCTATTCCAGAGGACGC	0.522		NA											11	96					2.81e-09	3.37e-09	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140784899	140784899	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr5:140784899T>C	uc003lkh.1	+	1	2380	c.2380T>C	c.(2380-2382)TCT>CCT	p.S794P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S794P|PCDHGB6_uc003lki.1_5'Flank|PCDHGB6_uc003lkj.1_5'Flank	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	794	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGTGCGTCTCTGTTGATTC	0.403		NA											4	35					0	0	0	0
CD2AP	23607	broad.mit.edu	37	6	47563699	47563699	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr6:47563699C>T	uc003oyw.2	+	12	1667	c.1211C>T	c.(1210-1212)TCT>TTT	p.S404F		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	404	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTACTGAGATCTTCTGGAACA	0.418		NA											19	156					0	0	0	0
AKAP12	9590	broad.mit.edu	37	6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr6:151671792G>A	uc011eep.1	+	4	2506	c.2266G>A	c.(2266-2268)GTT>ATT	p.V756I	AKAP12_uc003qoe.2_Missense_Mutation_p.V756I|AKAP12_uc003qof.2_Missense_Mutation_p.V658I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.V651I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	756	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537		NA											13	174					0	0	0	0
DOCK4	9732	broad.mit.edu	37	7	111368576	111368576	+	Silent	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:111368576C>T	uc003vfx.2	-	52	5924	c.5655G>A	c.(5653-5655)CCG>CCA	p.P1885P	DOCK4_uc011kml.1_Silent_p.P766P|DOCK4_uc011kmm.1_Silent_p.P754P|DOCK4_uc003vfw.2_Silent_p.P1297P|DOCK4_uc003vfy.2_Silent_p.P1930P|DOCK4_uc003vfv.2_Silent_p.P198P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1885	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CGCCGTAGCTCGGCACGGGCA	0.662		NA											6	51					0	0	0	0
CPA5	93979	broad.mit.edu	37	7	129986247	129986247	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:129986247G>A	uc010lmd.1	+	4	542	c.-78_splice	c.e4-1		CPA5_uc003vps.2_5'UTR|CPA5_uc003vpt.2_5'UTR|CPA5_uc010lme.1_5'UTR|CPA5_uc003vpu.1_Splice_Site	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1						proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					GGGCTTTCCAGCCTCTAGGTG	0.637		NA											4	28					0	0	0	0
XRCC2	7516	broad.mit.edu	37	7	152346254	152346254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr7:152346254C>A	uc003wld.2	-	3	402	c.316G>T	c.(316-318)GAA>TAA	p.E106*		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	106					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTGATTATTTCTTCAGAGCTT	0.378		NA						Homologous_recombination					10	78					3.86e-05	4.31e-05	1	0
EPHX2	2053	broad.mit.edu	37	8	27373874	27373874	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:27373874C>A	uc003xfu.2	+	8	950	c.869C>A	c.(868-870)GCT>GAT	p.A290D	EPHX2_uc010lut.1_Missense_Mutation_p.A290D|EPHX2_uc010luu.2_Missense_Mutation_p.A258D|EPHX2_uc010luv.2_Missense_Mutation_p.A224D|EPHX2_uc003xfv.2_Missense_Mutation_p.A237D|EPHX2_uc010luw.2_Missense_Mutation_p.A224D|EPHX2_uc011lam.1_Missense_Mutation_p.A146D	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	290	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CGGGTCCTAGCTATGGACATG	0.557		NA									OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	193					1.97e-08	2.33e-08	1	0
FUT10	84750	broad.mit.edu	37	8	33310867	33310867	+	Silent	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:33310867G>A	uc003xje.2	-	3	599	c.243C>T	c.(241-243)TAC>TAT	p.Y81Y	FUT10_uc003xjc.2_Silent_p.Y88Y|FUT10_uc003xjd.2_Silent_p.Y53Y|FUT10_uc011lbi.1_Silent_p.Y131Y|FUT10_uc003xjf.2_Missense_Mutation_p.P7S|FUT10_uc003xjg.2_Silent_p.Y53Y|FUT10_uc003xjh.2_Silent_p.Y81Y|FUT10_uc003xji.1_Silent_p.Y81Y	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	81	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCATAATGGGGTAGCTGTCCA	0.478		NA											3	33					0	0	0	0
ADAM2	2515	broad.mit.edu	37	8	39678606	39678606	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:39678606A>C	uc003xnj.2	-	6	503	c.428T>G	c.(427-429)GTA>GGA	p.V143G	ADAM2_uc003xnk.2_Missense_Mutation_p.V143G|ADAM2_uc011lck.1_Missense_Mutation_p.V143G|ADAM2_uc003xnl.2_Missense_Mutation_p.V143G	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	143					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTATGTTTTACTTGGTAAAT	0.328		NA											8	42					0	0	0	0
RGS20	8601	broad.mit.edu	37	8	54764582	54764582	+	Silent	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:54764582C>T	uc003xrp.2	+	1	215	c.123C>T	c.(121-123)ATC>ATT	p.I41I	RGS20_uc003xrq.2_Silent_p.I41I|RGS20_uc010lye.2_5'UTR|RGS20_uc010lyf.2_5'UTR	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	41					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TTCACCAAATCACAGAAAATG	0.458		NA											13	79					0	0	0	0
SULF1	23213	broad.mit.edu	37	8	70488393	70488393	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:70488393C>T	uc010lza.1	+	6	1078	c.361C>T	c.(361-363)CAT>TAT	p.H121Y	SULF1_uc003xyd.2_Missense_Mutation_p.H121Y|SULF1_uc003xye.2_Missense_Mutation_p.H121Y|SULF1_uc003xyf.2_Missense_Mutation_p.H121Y|SULF1_uc003xyg.2_Missense_Mutation_p.H121Y	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	121					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGGCCATGCATGAGCCTCG	0.498		NA											11	55					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765833	77765833	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:77765833A>G	uc003yav.2	+	10	6928	c.6541A>G	c.(6541-6543)AAA>GAA	p.K2181E	ZFHX4_uc003yau.1_Missense_Mutation_p.K2226E|ZFHX4_uc003yaw.1_Missense_Mutation_p.K2181E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2181	Homeobox 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCATTCAGTAAAAGGTCTTC	0.373		NA								HNSCC(33;0.089)			7	51					0	0	0	0
RRM2B	50484	broad.mit.edu	37	8	103237159	103237159	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr8:103237159T>A	uc003ykn.2	-	4	653	c.409A>T	c.(409-411)ATG>TTG	p.M137L	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.M85L|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	137					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AAACTGTACATCTCTGAGTGA	0.408		NA						Direct_reversal_of_damage|Modulation_of_nucleotide_pools					8	38					0	0	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328607	6328607	+	Silent	SNP	C	C	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:6328607C>G	uc003zjw.2	+	1	233	c.12C>G	c.(10-12)GCC>GCG	p.A4A	TPD52L3_uc003zjv.2_Silent_p.A4A|TPD52L3_uc003zjx.1_Silent_p.A4A	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	protein kinase NYD-SP25 isoform 1	4							protein binding				0		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TGCCACATGCCAGGACAGAGA	0.468		NA											60	94					0	0	0	0
HSD17B3	3293	broad.mit.edu	37	9	98997827	98997827	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:98997827G>T	uc004awa.1	-	11	896	c.848C>A	c.(847-849)GCC>GAC	p.A283D	HSD17B3_uc010msc.1_Missense_Mutation_p.A233D	NM_000197	NP_000188	P37058	DHB3_HUMAN	estradiol 17 beta-dehydrogenase 3	283					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity				0		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GAAGGCCCAGGCCGGGATCAG	0.527		NA											6	17					8.13e-05	9.01e-05	1	0
GALNT12	79695	broad.mit.edu	37	9	101599413	101599413	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:101599413A>C	uc004ayz.2	+	6	1195	c.1195A>C	c.(1195-1197)AAC>CAC	p.N399H		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	399	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CTACCATCGCAACCCCCGTGC	0.547		NA											7	114					0	0	0	0
DMD	1756	broad.mit.edu	37	X	31947847	31947847	+	Silent	SNP	A	A	G			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:31947847A>G	uc004dda.1	-	47	7022	c.6778T>C	c.(6778-6780)TTG>CTG	p.L2260L	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L916L|DMD_uc004dcx.2_Silent_p.L919L|DMD_uc004dcz.2_Silent_p.L2137L|DMD_uc004dcy.1_Silent_p.L2256L|DMD_uc004ddb.1_Silent_p.L2252L|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2260	Spectrin 16.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCAGGGGCAACTCTTCCACC	0.403		NA											11	29					0	0	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648934	75648934	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:75648934C>T	uc004ecm.1	+	1	818	c.611C>T	c.(610-612)CCT>CTT	p.P204L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CTGCCTACACCTGGTGAGGGA	0.687		NA											4	13					0	0	0	0
PABPC5	140886	broad.mit.edu	37	X	90691201	90691201	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:90691201G>A	uc004efg.2	+	2	1065	c.625G>A	c.(625-627)GAC>AAC	p.D209N	PABPC5_uc004eff.1_Missense_Mutation_p.D45N	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	209	RRM 3.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						CATTGGAGACGACATAGATGA	0.428		NA											5	21					0	0	0	0
IGSF1	3547	broad.mit.edu	37	X	130409627	130409627	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chrX:130409627G>T	uc004ewd.2	-	16	3247	c.3009C>A	c.(3007-3009)CAC>CAA	p.H1003Q	IGSF1_uc004ewe.3_Missense_Mutation_p.H997Q|IGSF1_uc004ewf.2_Missense_Mutation_p.H983Q	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1003	Extracellular (Potential).|Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CTCCTTCTTTGTGCAGAATGT	0.527		NA											10	47					9.31e-06	1.06e-05	1	0
PSIP1	11168	broad.mit.edu	37	9	15486860	15486860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5325-01A-01D-1683-08	TCGA-CQ-5325-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22b6abf5-aad8-46ab-9b87-e3c12309cb59	e385057a-e79d-480f-909f-5f978b1e28ab	g.chr9:15486860delC	uc003zlv.3	-	5	688	c.358delG	c.(358-360)GAAfs	p.E120fs	PSIP1_uc003zlw.3_Frame_Shift_Del_p.E120fs|PSIP1_uc003zlz.3_Frame_Shift_Del_p.E120fs|PSIP1_uc003zma.3_Frame_Shift_Del_p.E120fs|PSIP1_uc003zly.2_Frame_Shift_Del_p.E120fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	120					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TCGGTATCTTCCTTTGAAACA	0.333		NA											19	125	---	---	---	---	NA	NA	NA	NA