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	ACHILLES_Top_Genes	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	pox_cutoff	isArtifactMode	oxoGCut
MXRA8	54587	broad.mit.edu	37	1	1290644	1290644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:1290644C>A	uc001aew.2	-	4	489	c.458G>T	c.(457-459)CGC>CTC	p.R153L	MXRA8_uc001aex.3_Missense_Mutation_p.R153L|MXRA8_uc001aey.3_Missense_Mutation_p.R153L|MXRA8_uc010nyl.1_Missense_Mutation_p.R153L|MXRA8_uc001aez.2_Missense_Mutation_p.R52L|MXRA8_uc001afa.2_Missense_Mutation_p.R144L	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	153	Extracellular (Potential).|Ig-like V-type 1.					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GACCTCCAGGCGGACGGCCAG	0.443			NA											9	23					3.07112e-06	3.81753e-06	0.000978	1	0
KIAA0562	9731	broad.mit.edu	37	1	3751513	3751513	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:3751513T>A	uc001aky.2	-	11	1820	c.1461A>T	c.(1459-1461)AGA>AGT	p.R487S	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.R487S	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	487						centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		CCTTTATGGCTCTTCTAACGA	0.502			NA											4	6					0	0	0.000602	0	0
SPATA21	374955	broad.mit.edu	37	1	16725938	16725938	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:16725938C>A	uc001ayn.2	-	12	1736	c.1253G>T	c.(1252-1254)AGG>ATG	p.R418M	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.R395M	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	418							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCTCGGCTGCCTACGGACCAT	0.597			NA											13	42					0.000151284	0.000176895	0.001855	1	0
C1orf213	148898	broad.mit.edu	37	1	23695808	23695808	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:23695808C>G	uc001bgw.2	+	1	345	c.18C>G	c.(16-18)GTC>GTG	p.V6V	ZNF436_uc001bgt.2_5'Flank|ZNF436_uc001bgu.2_Intron|C1orf213_uc001bgv.2_Silent_p.V6V	NM_138479	NP_612488			hypothetical protein LOC148898 isoform 1												0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CAGTCCCTGTCCGGTTGAAGG	0.612			NA											5	53					0	0	0.001168	0	0
TCEB3	6924	broad.mit.edu	37	1	24078311	24078311	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:24078311T>A	uc001bho.2	+	4	1354	c.1294T>A	c.(1294-1296)TCT>ACT	p.S432T		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	432					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCCAACCATGTCTTTTGAATC	0.423			NA									OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	239					0	0	0.003271	0	0
BAI2	576	broad.mit.edu	37	1	32196416	32196416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:32196416C>A	uc001btn.2	-	29	4719	c.4365G>T	c.(4363-4365)AAG>AAT	p.K1455N	BAI2_uc001btm.2_Missense_Mutation_p.K449N|BAI2_uc001btp.1_Missense_Mutation_p.K449N|BAI2_uc010ogn.1_Missense_Mutation_p.K425N|BAI2_uc010ogo.1_Missense_Mutation_p.K1064N|BAI2_uc010ogp.1_Missense_Mutation_p.K1388N|BAI2_uc010ogq.1_Missense_Mutation_p.K1422N|BAI2_uc001bto.2_Missense_Mutation_p.K1455N	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1455	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGAGCCCATCTTCATGGTAG	0.672			NA											29	66					3.69857e-22	6.35395e-22	0.008361	1	0
CSMD2	114784	broad.mit.edu	37	1	34083126	34083126	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:34083126G>T	uc001bxn.1	-	38	5828	c.5799C>A	c.(5797-5799)TTC>TTA	p.F1933L	CSMD2_uc001bxm.1_Missense_Mutation_p.F1973L|CSMD2_uc001bxo.1_Missense_Mutation_p.F846L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1933	Sushi 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCACACTGGAAAGACACCA	0.587			NA											8	37					5.18039e-06	6.4038e-06	0.00308	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35940505	35940505	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:35940505T>C	uc001byx.2	-	5	1174	c.916A>G	c.(916-918)ATA>GTA	p.I306V	KIAA0319L_uc010ohw.1_RNA|KIAA0319L_uc001byz.2_Missense_Mutation_p.I306V|KIAA0319L_uc010ohx.1_Missense_Mutation_p.I306V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	306	Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTTCCTTTATAACTGGAAAC	0.363			NA											5	53					0	0	0.000602	0	0
MPL	4352	broad.mit.edu	37	1	43805148	43805148	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:43805148C>A	uc001ciw.2	+	4	643	c.598C>A	c.(598-600)CCT>ACT	p.P200T	MPL_uc001civ.2_Missense_Mutation_p.P200T|MPL_uc009vwr.2_Missense_Mutation_p.P193T	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	200	Extracellular (Potential).|Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGCAGAGGCCTCACTCAGC	0.572	NSCLC(52;534 1204 10016 41452 44427)		NA	Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						29	70					1.16021e-09	1.6365e-09	0.007291	1	0
BEND5	79656	broad.mit.edu	37	1	49224778	49224778	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:49224778C>A	uc001crx.3	-	3	583	c.539G>T	c.(538-540)CGG>CTG	p.R180L	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.R11L	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	180	Potential.									skin(1)	1						ATACAGAGCCCGGGGCACCAC	0.622			NA											25	44					3.08376e-08	4.14884e-08	0.00333	1	0
BEND5	79656	broad.mit.edu	37	1	49224782	49224782	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:49224782G>C	uc001crx.3	-	3	579	c.535C>G	c.(535-537)CCC>GCC	p.P179A	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.P10A	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	179										skin(1)	1						AGAGCCCGGGGCACCACAGCA	0.627			NA											21	47					0	0	0.001523	0	0
TXNDC12	51060	broad.mit.edu	37	1	52489195	52489195	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:52489195C>A	uc001cti.2	-	6	686	c.407G>T	c.(406-408)AGC>ATC	p.S136I		NM_015913	NP_056997	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 precursor	209	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			ovary(1)	1						ATACTTGTAGCTGGGGTTTCC	0.418			NA											27	55					8.16721e-17	1.33464e-16	0.002096	1	0
CACHD1	57685	broad.mit.edu	37	1	65047888	65047888	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:65047888A>G	uc001dbo.1	+	3	263	c.158A>G	c.(157-159)AAT>AGT	p.N53S	CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	104	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						GATGTGGTCAATCGGAACAAG	0.443			NA											15	56					0	0	0.003163	0	0
SGIP1	84251	broad.mit.edu	37	1	67195021	67195021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:67195021C>A	uc001dcr.2	+	20	2034	c.1817C>A	c.(1816-1818)CCG>CAG	p.P606Q	SGIP1_uc010opd.1_Missense_Mutation_p.P206Q|SGIP1_uc001dcs.2_Missense_Mutation_p.P206Q|SGIP1_uc001dct.2_Missense_Mutation_p.P208Q|SGIP1_uc009wat.2_Missense_Mutation_p.P400Q|SGIP1_uc001dcu.2_Missense_Mutation_p.P111Q	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	606					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						GCCAACAACCCGTCCCCAGCT	0.453			NA											36	92					4.11147e-13	6.23232e-13	0.003755	1	0
GIPC2	54810	broad.mit.edu	37	1	78546513	78546513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:78546513C>A	uc001dik.2	+	2	585	c.395C>A	c.(394-396)ACA>AAA	p.T132K		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	PDZ domain protein GIPC2	132	PDZ.					cytoplasm				ovary(1)	1						CTCACCATTACAGATAATGGT	0.338			NA											16	39					1.15088e-07	1.50603e-07	0.004007	1	0
BRDT	676	broad.mit.edu	37	1	92441925	92441925	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:92441925A>G	uc001dok.3	+	5	897	c.548A>G	c.(547-549)AAG>AGG	p.K183R	BRDT_uc001dol.3_Missense_Mutation_p.K183R|BRDT_uc010osz.1_Missense_Mutation_p.K187R|BRDT_uc009wdf.2_Missense_Mutation_p.K110R|BRDT_uc010ota.1_Missense_Mutation_p.K137R|BRDT_uc010otb.1_Missense_Mutation_p.K137R|BRDT_uc001dom.3_Missense_Mutation_p.K183R	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTATTTCCTAAGACATCTATT	0.388			NA											19	45					0	0	0.007413	0	0
AMY2A	279	broad.mit.edu	37	1	104163185	104163185	+	Missense_Mutation	SNP	G	G	T	rs142529431		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:104163185G>T	uc001dut.2	+	5	821	c.757G>T	c.(757-759)GGT>TGT	p.G253C		NM_000699	NP_000690	P04746	AMYP_HUMAN	pancreatic amylase alpha 2A precursor	253					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			ovary(1)|skin(1)	2		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	AATTGATCTGGGTGGTGAGCC	0.348			NA											27	207					2.61675e-31	4.75129e-31	0.003214	1	0
EPS8L3	79574	broad.mit.edu	37	1	110294720	110294720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:110294720G>C	uc001dyr.1	-	15	1476	c.1331C>G	c.(1330-1332)TCC>TGC	p.S444C	EPS8L3_uc001dys.1_Missense_Mutation_p.S414C|EPS8L3_uc001dyq.1_Missense_Mutation_p.S445C|EPS8L3_uc009wfm.1_Missense_Mutation_p.S381C|EPS8L3_uc009wfn.1_Missense_Mutation_p.S389C	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	444						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TTTGGGGCTGGAGGGCCTGGA	0.572			NA											32	210					0	0	0.002836	0	0
AMPD1	270	broad.mit.edu	37	1	115220608	115220608	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:115220608C>A	uc001efe.1	-	9	1231	c.1147G>T	c.(1147-1149)GGA>TGA	p.G383*	AMPD1_uc001eff.1_Nonsense_Mutation_p.G379*	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	383					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCACTTGCTCCTACAGGATTA	0.423			NA											19	46					0.00074312	0.000848195	0.006122	1	0
NGF	4803	broad.mit.edu	37	1	115829133	115829133	+	Missense_Mutation	SNP	C	C	A	rs150136942	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:115829133C>A	uc001efu.1	-	3	453	c.284G>T	c.(283-285)CGT>CTT	p.R95L		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	95					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	p.R95H(1)		upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGCAGCTTCACGGGGAGGCTG	0.602			NA											17	37					1.02788e-11	1.51359e-11	0.00499	1	0
SV2A	9900	broad.mit.edu	37	1	149877572	149877572	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:149877572G>A	uc001etg.2	-	12	2396	c.1905C>T	c.(1903-1905)TCC>TCT	p.S635S	SV2A_uc009wlk.2_Silent_p.S87S|SV2A_uc001eth.2_Silent_p.S635S	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	635	Helical; (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGAGACACAGGACATCACGC	0.592			NA											12	49					0	0	0.001368	0	0
KPRP	448834	broad.mit.edu	37	1	152733235	152733235	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:152733235T>C	uc001fal.1	+	2	1229	c.1171T>C	c.(1171-1173)TGT>CGT	p.C391R		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	391	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGACCAGTGTCCAGAGTC	0.642			NA											20	56					0	0	0.001523	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957747	152957747	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:152957747C>A	uc009wnu.1	+	2	119	c.41C>A	c.(40-42)CCT>CAT	p.P14H	SPRR1A_uc001faw.2_Missense_Mutation_p.P14H	NM_005987	NP_005978	P35321	SPR1A_HUMAN	small proline-rich protein 1A	14	1.|2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity				0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCACCCCCTCAGCCTCAG	0.522			NA											45	120					5.2432e-18	8.71699e-18	0.00361	1	0
IQGAP3	128239	broad.mit.edu	37	1	156507066	156507066	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:156507066T>A	uc001fpf.2	-	27	3404	c.3329A>T	c.(3328-3330)GAG>GTG	p.E1110V		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1110	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCTGGACCTCGGGGTGGCT	0.557			NA											26	49					0	0	0.003954	0	0
OR6K2	81448	broad.mit.edu	37	1	158669868	158669868	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:158669868C>A	uc001fsu.1	-	1	575	c.575G>T	c.(574-576)CGA>CTA	p.R192L		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R192*(1)		pancreas(1)	1	all_hematologic(112;0.0378)					GACGATGGCTCGTGTGTCTGT	0.473			NA											28	70					7.41945e-09	1.01865e-08	0.005443	1	0
ATP1A2	477	broad.mit.edu	37	1	160111106	160111106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:160111106C>A	uc001fvc.2	+	23	3189	c.3057C>A	c.(3055-3057)TAC>TAA	p.Y1019*	ATP1A2_uc001fvd.2_Nonsense_Mutation_p.Y738*	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	1019	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGGAGACATACTACTGACCCC	0.512			NA											13	55					0.000151284	0.000176895	0.001855	1	0
GORAB	92344	broad.mit.edu	37	1	170521193	170521193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:170521193G>T	uc001gha.2	+	5	802	c.775G>T	c.(775-777)GCA>TCA	p.A259S	GORAB_uc009wvx.2_Missense_Mutation_p.A79S|GORAB_uc001ghb.2_Missense_Mutation_p.A79S|GORAB_uc001ghc.2_Missense_Mutation_p.A79S|GORAB_uc001ghd.2_Missense_Mutation_p.A52S	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	259	Necessary for interaction with RCHY1.|Potential.					Golgi apparatus|nucleus					0						GTACATTGCAGCAAAGCTAGA	0.418			NA											41	99					1.32136e-16	2.15403e-16	0.00874	1	0
TNR	7143	broad.mit.edu	37	1	175332844	175332844	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:175332844C>A	uc001gkp.1	-	11	2788	c.2707G>T	c.(2707-2709)GTG>TTG	p.V903L	TNR_uc009wwu.1_Missense_Mutation_p.V903L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACTTTGTTACCTTGGGTGGGT	0.448			NA											21	56					9.95505e-16	1.59186e-15	0.002299	1	0
TNR	7143	broad.mit.edu	37	1	175372666	175372666	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:175372666C>G	uc001gkp.1	-	2	667	c.586G>C	c.(586-588)GGC>CGC	p.G196R	TNR_uc009wwu.1_Missense_Mutation_p.G196R|TNR_uc010pmz.1_Missense_Mutation_p.G196R	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	196	EGF-like 1.|Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CAATTCTTGCCAAACCAGCCT	0.577			NA											22	134					0	0	0.002299	0	0
CACNA1E	777	broad.mit.edu	37	1	181764028	181764028	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:181764028G>T	uc001gow.2	+	45	6092	c.5927G>T	c.(5926-5928)CGT>CTT	p.R1976L	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1864L|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1245L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2019	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCCATGAGACGTTCATTTTCC	0.468			NA											14	43					2.48551e-13	3.79337e-13	0.00499	1	0
FAM5C	339479	broad.mit.edu	37	1	190067356	190067356	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:190067356G>A	uc001gse.1	-	8	2325	c.2093C>T	c.(2092-2094)TCA>TTA	p.S698L	FAM5C_uc010pot.1_Missense_Mutation_p.S596L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	698						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CAAAAGTGCTGAATCCTGGGA	0.468			NA											6	100					0	0	0.001984	0	0
PTPRC	5788	broad.mit.edu	37	1	198703530	198703530	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:198703530C>A	uc001gur.1	+	22	2427	c.2247C>A	c.(2245-2247)GTC>GTA	p.V749V	PTPRC_uc001gus.1_Silent_p.V701V|PTPRC_uc001gut.1_Silent_p.V588V|PTPRC_uc010ppg.1_Silent_p.V685V	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	749	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TTGTCATGGTCACTCGATGTG	0.418			NA											104	250					9.53466e-49	1.78442e-48	0.00361	1	0
GPR25	2848	broad.mit.edu	37	1	200843050	200843050	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:200843050G>T	uc001gvn.1	+	1	885	c.885G>T	c.(883-885)CTG>CTT	p.L295L		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	295	Helical; Name=7; (Potential).					integral to plasma membrane				ovary(1)	1						CCACCTGCCTGGCCTTCGTCA	0.746			NA											28	60					8.4185e-14	1.30868e-13	0.002445	1	0
KIF21B	23046	broad.mit.edu	37	1	200961498	200961498	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:200961498A>T	uc001gvs.1	-	16	2614	c.2297T>A	c.(2296-2298)ATG>AAG	p.M766K	KIF21B_uc001gvr.1_Missense_Mutation_p.M766K|KIF21B_uc009wzl.1_Missense_Mutation_p.M766K|KIF21B_uc010ppn.1_Missense_Mutation_p.M766K	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	766	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CTCCTCACGCATCTGCTTCAT	0.642			NA											20	74					0	0	0.004656	0	0
PKP1	5317	broad.mit.edu	37	1	201294192	201294192	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:201294192A>T	uc001gwd.2	+	12	2272	c.2021A>T	c.(2020-2022)CAA>CTA	p.Q674L	PKP1_uc001gwe.2_Missense_Mutation_p.Q653L|PKP1_uc009wzm.2_Missense_Mutation_p.Q261L	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	674	ARM 9.				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						TCGCAGCCACAACTGGCCAAG	0.592			NA											37	158					0	0	0.00623	0	0
RYR2	6262	broad.mit.edu	37	1	237982471	237982471	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:237982471A>G	uc001hyl.1	+	101	14689	c.14569A>G	c.(14569-14571)ATT>GTT	p.I4857V	RYR2_uc010pyb.1_Missense_Mutation_p.I290V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4857	Helical; Name=M10; (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTATTGTCATTCTCTTGGC	0.408			NA											32	100					0	0	0.002836	0	0
KMO	8564	broad.mit.edu	37	1	241729848	241729848	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:241729848A>T	uc009xgp.2	+	9	810	c.745A>T	c.(745-747)ACC>TCC	p.T249S	KMO_uc001hyy.2_Missense_Mutation_p.T249S|KMO_uc009xgo.1_Missense_Mutation_p.T249S	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	249					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAAACTTCTAACCAGTAATGA	0.403			NA											23	67					0	0	0.001882	0	0
NLRP3	114548	broad.mit.edu	37	1	247588839	247588839	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:247588839C>A	uc001icr.2	+	5	2232	c.2094C>A	c.(2092-2094)GGC>GGA	p.G698G	NLRP3_uc001ics.2_Silent_p.G698G|NLRP3_uc001icu.2_Silent_p.G698G|NLRP3_uc001icw.2_Silent_p.G698G|NLRP3_uc001icv.2_Silent_p.G698G|NLRP3_uc010pyw.1_Silent_p.G696G|NLRP3_uc001ict.1_Silent_p.G696G	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	698					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAAGGAAGGCCGACACCTTG	0.527			NA											8	37					0.000442599	0.000508648	0.006214	1	0
OR2W5	441932	broad.mit.edu	37	1	247654603	247654603	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:247654603C>A	uc001icz.1	+	1	174	c.174C>A	c.(172-174)CCC>CCA	p.P58P		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCCACACACCCATGTACTTCT	0.498			NA											18	56					2.35188e-11	3.44805e-11	0.006122	1	0
OR2W3	343171	broad.mit.edu	37	1	248059225	248059225	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:248059225C>A	uc001idp.1	+	3	606	c.337C>A	c.(337-339)CTG>ATG	p.L113M	OR2W3_uc010pzb.1_Missense_Mutation_p.L113M	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTGGAGTGCCTGCTTCTGGC	0.572			NA											19	67					4.35082e-09	6.07301e-09	0.001523	1	0
OR2L8	391190	broad.mit.edu	37	1	248112950	248112950	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:248112950T>C	uc001idt.1	+	1	791	c.791T>C	c.(790-792)CTG>CCG	p.L264P	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCAAGATCCCTGCGATCTCCA	0.488			NA											5	126					0	0	0.000602	0	0
OR2M5	127059	broad.mit.edu	37	1	248308855	248308855	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:248308855A>T	uc010pze.1	+	1	406	c.406A>T	c.(406-408)ATG>TTG	p.M136L		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACCAATCTCATGAGACCCAA	0.448			NA											67	356					0	0	0.00361	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214469	7214469	+	Silent	SNP	C	C	A	rs145957081	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:7214469C>A	uc009xio.1	-	18	2230	c.2139G>T	c.(2137-2139)GCG>GCT	p.A713A	SFMBT2_uc001ijn.1_Silent_p.A713A|SFMBT2_uc010qay.1_Silent_p.A548A	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	713					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CCCCCGAGCCCGCGGTGAAGT	0.642			NA											7	17					0.00198382	0.00224141	0.001984	1	0
ITIH5	80760	broad.mit.edu	37	10	7618933	7618933	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:7618933G>A	uc001ijq.2	-	10	1540	c.1461C>T	c.(1459-1461)CGC>CGT	p.R487R	ITIH5_uc001ijp.2_Silent_p.R273R|ITIH5_uc001ijr.1_Silent_p.R487R	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	487					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						GATAATCGATGCGGATGTCAG	0.592			NA											8	45					0	0	0.00308	0	0
ARMC3	219681	broad.mit.edu	37	10	23326202	23326202	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:23326202C>G	uc001irm.3	+	19	2496	c.2413C>G	c.(2413-2415)CTG>GTG	p.L805V	ARMC3_uc010qcv.1_Missense_Mutation_p.L798V|ARMC3_uc010qcw.1_Missense_Mutation_p.L542V	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	805							binding				0						CCTGCAGGCTCTGGCTGATAG	0.493			NA											10	43					0	0	0.001855	0	0
GDF10	2662	broad.mit.edu	37	10	48429282	48429282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:48429282G>T	uc001jfb.2	-	2	1060	c.604C>A	c.(604-606)CAG>AAG	p.Q202K	GDF10_uc009xnp.2_Missense_Mutation_p.Q201K|GDF10_uc009xnq.1_Missense_Mutation_p.Q202K	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	202					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						TCCTTGGCCTGCCACAGGCCG	0.721			NA											4	23					0.00024832	0.000288344	0.000248	1	0
ERCC6	2074	broad.mit.edu	37	10	50732561	50732561	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:50732561T>A	uc001jhs.3	-	5	1069	c.915A>T	c.(913-915)CCA>CCT	p.P305P	PGBD3_uc001jht.2_5'Flank|PGBD3_uc009xoe.2_Silent_p.P305P|PGBD3_uc001jhu.2_Silent_p.P305P	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	305					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GCACTGGGGCTGGAGGCGTGA	0.423			NA						Direct_reversal_of_damage|NER					33	103					0	0	0.002836	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820375	50820375	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:50820375C>A	uc001jhw.2	+	1	2029	c.1589C>A	c.(1588-1590)ACC>AAC	p.T530N	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	530	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						TACTACTACACCCGCAGCTAG	0.667			NA											13	66					5.50884e-06	6.75993e-06	0.001368	1	0
PCDH15	65217	broad.mit.edu	37	10	56287577	56287577	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:56287577C>T	uc001jju.1	-	3	547	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	PCDH15_uc010qhq.1_Missense_Mutation_p.R56Q|PCDH15_uc010qhr.1_Missense_Mutation_p.R51Q|PCDH15_uc010qhs.1_Missense_Mutation_p.R56Q|PCDH15_uc010qht.1_Missense_Mutation_p.R51Q|PCDH15_uc010qhu.1_Missense_Mutation_p.R51Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R51Q|PCDH15_uc010qhw.1_Missense_Mutation_p.R51Q|PCDH15_uc010qhx.1_Missense_Mutation_p.R51Q|PCDH15_uc010qhy.1_Missense_Mutation_p.R56Q|PCDH15_uc010qhz.1_Missense_Mutation_p.R51Q|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Missense_Mutation_p.R51Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	51	Cadherin 1.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACCATTCCGACTTTCTTC	0.338			NA								HNSCC(58;0.16)			8	37					0	0	0.006214	0	0
CRTAC1	55118	broad.mit.edu	37	10	99771078	99771079	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:99771078_99771079GG>AA	uc001kou.1	-	2	396_397	c.40_41CC>TT	c.(40-42)CCG>TTG	p.P14L	CRTAC1_uc001kov.2_Missense_Mutation_p.P3L	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	14						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGCAGGAACGGTAACATCCTG	0.51			NA											16	92					0	0	0.004672	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054719	102054719	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:102054719A>G	uc001kqx.1	-	8	1901	c.1518T>C	c.(1516-1518)TTT>TTC	p.F506F	PKD2L1_uc009xwm.1_Silent_p.F459F	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	506	Extracellular (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)		TGAAAGTGCTAAAGTTTTCCA	0.542			NA											12	18					0	0	0.000978	0	0
ACSL5	51703	broad.mit.edu	37	10	114181795	114181795	+	Splice_Site	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:114181795T>A	uc001kzs.2	+	16	1617	c.1476_splice	c.e16+2	p.E492_splice	ACSL5_uc001kzt.2_Splice_Site_p.E492_splice|ACSL5_uc001kzu.2_Splice_Site_p.E548_splice|ACSL5_uc009xxz.2_Splice_Site_p.E492_splice|ACSL5_uc010qrj.1_Splice_Site_p.E274_splice	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5						fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GAAGGAGAGGTGGGTAGGTCA	0.458			NA											5	62					0	0	0.000602	0	0
MKI67	4288	broad.mit.edu	37	10	129913899	129913899	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:129913899A>T	uc001lke.2	-	7	968	c.773T>A	c.(772-774)CTA>CAA	p.L258Q	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	258					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACAATACTGTAGGACATTTTC	0.378			NA											6	18					0	0	0.001168	0	0
PRAP1	118471	broad.mit.edu	37	10	135165895	135165895	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr10:135165895T>A	uc001lmp.2	+	5	485	c.407T>A	c.(406-408)GTG>GAG	p.V136E	PRAP1_uc001lmr.2_Missense_Mutation_p.V127E|PRAP1_uc001lmq.1_Missense_Mutation_p.V108E	NM_145202	NP_660203	Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1 isoform 1	136						extracellular region					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		AATCACCAGGTGCTCCTGGGA	0.662			NA											12	66					0	0	0.003163	0	0
CHID1	66005	broad.mit.edu	37	11	883186	883186	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:883186C>T	uc001lsl.2	-	10	1082	c.921G>A	c.(919-921)GCG>GCA	p.A307A	CHID1_uc010qwu.1_Silent_p.A337A|CHID1_uc010qwv.1_Silent_p.A368A|CHID1_uc001lsn.2_Silent_p.A332A|CHID1_uc001lsm.2_Silent_p.A307A|CHID1_uc001lso.2_Silent_p.A307A|CHID1_uc001lsp.2_Silent_p.A276A|CHID1_uc010qww.1_Silent_p.A307A|uc001lsq.1_5'Flank|uc001lsr.1_5'Flank	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	307					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCTTGGAGGTCGCGTAGTCCA	0.632	Pancreas(117;992 2327 5172 41921)		NA											34	104					0	0	0.002445	0	0
MUC5B	727897	broad.mit.edu	37	11	1151661	1151661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:1151661G>A	uc009ycr.1	+	2	161	c.35G>A	c.(34-36)TGG>TAG	p.W12*		NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	Error:Variant_position_missing_in_Q9HC84_after_alignment					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCCTGCTCTGGGCCCTGGCT	0.677			NA											3	6					0	0	0.000248	0	0
ZNF195	7748	broad.mit.edu	37	11	3381280	3381280	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:3381280T>A	uc001lxt.2	-	6	1136	c.958A>T	c.(958-960)ATT>TTT	p.I320F	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.I297F|ZNF195_uc001lxs.2_Missense_Mutation_p.I248F|ZNF195_uc010qxr.1_Missense_Mutation_p.I301F|ZNF195_uc009ydz.2_Missense_Mutation_p.I275F|ZNF195_uc001lxu.2_Missense_Mutation_p.I252F	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCGGCATAAATTCTATTTTTA	0.393			NA											19	105					0	0	0.006122	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687438	3687438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:3687438C>A	uc001lyf.2	-	5	1324	c.1252G>T	c.(1252-1254)GAC>TAC	p.D418Y	CHRNA10_uc010qxt.1_Missense_Mutation_p.D212Y|CHRNA10_uc010qxu.1_Missense_Mutation_p.D212Y	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	418	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CGCTTCCAGTCCTCATGGCAG	0.637	Melanoma(153;17 1869 2949 7120 36888)		NA											15	78					3.45872e-05	4.15294e-05	0.004007	1	0
TRIM68	55128	broad.mit.edu	37	11	4621864	4621864	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:4621864C>T	uc001lzf.1	-	7	1338	c.1100G>A	c.(1099-1101)AGG>AAG	p.R367K	TRIM68_uc001lzg.1_Missense_Mutation_p.R144K|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	367	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCACTCAGACCTGTCTCCCAC	0.537			NA											9	43					0	0	0.006214	0	0
CCKBR	887	broad.mit.edu	37	11	6292657	6292657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:6292657C>A	uc001mcp.2	+	5	1421	c.1228C>A	c.(1228-1230)CCC>ACC	p.P410T	CCKBR_uc001mcq.2_Missense_Mutation_p.P338T|CCKBR_uc001mcr.2_Missense_Mutation_p.P393T|CCKBR_uc001mcs.2_Missense_Mutation_p.P479T	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	410	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TCGCTGCTGCCCCCGGCCTCC	0.642			NA											12	74					1.08611e-07	1.42406e-07	0.000978	1	0
OR2D2	120776	broad.mit.edu	37	11	6913062	6913062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:6913062T>A	uc010rau.1	-	1	670	c.670A>T	c.(670-672)ACT>TCT	p.T224S		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGACCACAGTTACTATGATA	0.438			NA											18	26					0	0	0.007413	0	0
UEVLD	55293	broad.mit.edu	37	11	18591865	18591865	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:18591865G>A	uc001mot.2	-	4	333	c.253C>T	c.(253-255)CCT>TCT	p.P85S	UEVLD_uc001mou.2_Missense_Mutation_p.P85S|UEVLD_uc010rde.1_Intron|UEVLD_uc010rdf.1_Missense_Mutation_p.P63S|UEVLD_uc010rdg.1_Intron|UEVLD_uc001mov.2_Missense_Mutation_p.P63S|UEVLD_uc010rdh.1_Missense_Mutation_p.P85S	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	85	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor				0						AAGCAAATAGGGGGAGCGAAA	0.368			NA											8	26					0	0	0.004482	0	0
Unknown	0	broad.mit.edu	37	11	31086701	31086701	+	Splice_Site	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:31086701C>A	uc009yjk.1	-	7	712	c.643_splice	c.e7-1	p.A215_splice	uc009yjl.1_Splice_Site_p.A143_splice|DCDC1_uc001msu.1_Splice_Site_p.A386_splice					RecName: Full=Doublecortin domain-containing protein 5;												NA						GAGGATAAGCCTGTAAGAAAG	0.393			NA											13	28					0.00185496	0.00209936	0.001855	1	0
ABTB2	25841	broad.mit.edu	37	11	34218979	34218979	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:34218979C>A	uc001mvl.1	-	3	809	c.579G>T	c.(577-579)TGG>TGT	p.W193C		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	193							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CGTCGGGGGACCAAGTGATGG	0.662			NA											8	39					0.00307968	0.00347371	0.00308	1	0
CHST1	8534	broad.mit.edu	37	11	45672284	45672284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:45672284G>T	uc001mys.1	-	4	861	c.190C>A	c.(190-192)CTC>ATC	p.L64I		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	64	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCAGGATGAGGATGTGGGTC	0.647			NA											15	63					0.00316338	0.00356212	0.003163	1	0
CRY2	1408	broad.mit.edu	37	11	45880390	45880390	+	Missense_Mutation	SNP	A	A	T	rs145426016		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:45880390A>T	uc010rgn.1	+	3	518	c.496A>T	c.(496-498)ACG>TCG	p.T166S	CRY2_uc009ykw.2_Missense_Mutation_p.T84S	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	145	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						GGAAGTAGTGACGGAGAATTC	0.507	Esophageal Squamous(106;91 1499 8126 12599 39610)		NA											9	33					0	0	0.001368	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45925561	45925561	+	Silent	SNP	C	C	T	rs144563506	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:45925561C>T	uc001nbr.2	+	7	1685	c.1515C>T	c.(1513-1515)GAC>GAT	p.D505D		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	505	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		GACACGAAGACGAACTTGAGC	0.592			NA											20	95					0	0	0.008871	0	0
AMBRA1	55626	broad.mit.edu	37	11	46430094	46430094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:46430094C>A	uc010rgu.1	-	17	3732	c.3372G>T	c.(3370-3372)GAG>GAT	p.E1124D	AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Missense_Mutation_p.E1095D|AMBRA1_uc001ncu.1_Missense_Mutation_p.E1034D|AMBRA1_uc001ncv.2_Missense_Mutation_p.E1127D|AMBRA1_uc001ncw.2_Missense_Mutation_p.E1005D|AMBRA1_uc001ncx.2_Missense_Mutation_p.E1064D	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1124					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTCCCTGGCTCCGGCACCT	0.637			NA											19	24					1.55795e-14	2.45029e-14	0.001882	1	0
CKAP5	9793	broad.mit.edu	37	11	46839864	46839864	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:46839864C>A	uc001ndi.1	-	3	358	c.248G>T	c.(247-249)GGA>GTA	p.G83V	CKAP5_uc009ylg.1_5'UTR|CKAP5_uc001ndj.1_Missense_Mutation_p.G83V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	83					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						TACTTACTTTCCTGCTACATG	0.338	Ovarian(4;85 273 2202 4844 13323)		NA											9	69					0.00448238	0.00503048	0.004482	1	0
SPI1	6688	broad.mit.edu	37	11	47381421	47381421	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:47381421G>A	uc001nfc.1	-	3	536	c.313C>T	c.(313-315)CCC>TCC	p.P105S	SPI1_uc001nfb.1_Missense_Mutation_p.P106S|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.P99S	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	105					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		CCAAGACTGGGATGGGGTGGC	0.677			NA											22	40					0	0	0.004656	0	0
OR4A47	403253	broad.mit.edu	37	11	48510913	48510913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:48510913C>A	uc010rhx.1	+	1	569	c.569C>A	c.(568-570)ACC>AAC	p.T190N		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGCACTGACACCCATGCTATT	0.438			NA											28	107					3.73148e-12	5.56813e-12	0.007291	1	0
OR4A16	81327	broad.mit.edu	37	11	55111360	55111360	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55111360G>A	uc010rie.1	+	1	684	c.684G>A	c.(682-684)CAG>CAA	p.Q228Q		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						CTTACAGTCAGGAAGAGAGGC	0.428			NA											19	104					0	0	0.006122	0	0
OR8H3	390152	broad.mit.edu	37	11	55890472	55890472	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55890472G>T	uc001nii.1	+	1	624	c.624G>T	c.(622-624)ATG>ATT	p.M208I		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CCACCCTGATGGTGTCCCTTA	0.423			NA											25	119					4.4004e-07	5.62647e-07	0.00333	1	0
OR5T2	219464	broad.mit.edu	37	11	55999734	55999734	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55999734C>T	uc010rjc.1	-	1	928	c.928G>A	c.(928-930)GAC>AAC	p.D310N		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	310	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ACTATCATGTCATGGTCCGAA	0.398			NA											22	83					0	0	0.002299	0	0
LRRC55	219527	broad.mit.edu	37	11	56954808	56954808	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:56954808C>T	uc001njl.1	+	2	1027	c.880C>T	c.(880-882)CTG>TTG	p.L294L	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	264	LRRCT.					integral to membrane					0						GGCCTGCCACCTGACCCTGAC	0.582			NA											18	78					0	0	0.00499	0	0
APLNR	187	broad.mit.edu	37	11	57004438	57004438	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:57004438T>A	uc001njo.2	-	1	490	c.41A>T	c.(40-42)GAC>GTC	p.D14V	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	14	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						AGACTGGTTGTCTGCCCCATA	0.582			NA											27	50					0	0	0.00632	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Silent	SNP	C	C	A	rs139135884	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:57947582C>A	uc001nmj.2	+	3	982	c.666C>A	c.(664-666)ATC>ATA	p.I222I		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512			NA											34	93					4.39465e-27	7.87276e-27	0.002836	1	0
OR10W1	81341	broad.mit.edu	37	11	58035220	58035220	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:58035220C>A	uc001nmq.1	-	1	513	c.111G>T	c.(109-111)GTG>GTT	p.V37V		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				GAATGGACACCACAATGAGAA	0.493			NA											10	62					0.000442599	0.000508648	0.006214	1	0
OR4D11	219986	broad.mit.edu	37	11	59271633	59271633	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:59271633T>A	uc001noa.1	+	1	585	c.585T>A	c.(583-585)CTT>CTA	p.L195L		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTTTTGCTCTTGAGTTCTTGA	0.488			NA											59	138					0	0	0.00361	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359046	64359046	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:64359046C>G	uc001oam.1	+	1	765	c.18C>G	c.(16-18)CTC>CTG	p.L6L	SLC22A12_uc009ypr.1_Silent_p.L6L|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Silent_p.L6L|SLC22A12_uc001oan.1_Silent_p.L6L|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	6					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						TTTCTGAACTCCTGGACCTCG	0.592			NA											29	128					0	0	0.008361	0	0
MUS81	80198	broad.mit.edu	37	11	65631996	65631996	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:65631996G>A	uc001ofv.3	+	11	1441	c.1088G>A	c.(1087-1089)CGC>CAC	p.R363H	MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	MUS81 endonuclease homolog	363	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding				0				READ - Rectum adenocarcinoma(159;0.166)		GGTCTGGAGCGCCGGGTATAC	0.592			NA						Homologous_recombination					6	44					0	0	0.001168	0	0
ANO1	55107	broad.mit.edu	37	11	69970497	69970497	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:69970497G>C	uc001opj.2	+	9	1244	c.939G>C	c.(937-939)AAG>AAC	p.K313N	ANO1_uc001opk.1_Missense_Mutation_p.K285N|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.K48N	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	313	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						TTTTCTATAAGTACCAGCCCA	0.572			NA											8	28					0	0	0.006214	0	0
WNT11	7481	broad.mit.edu	37	11	75905828	75905828	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:75905828G>A	uc001oxe.2	-	3	503	c.380C>T	c.(379-381)GCC>GTC	p.A127V	WNT11_uc001oxf.1_Missense_Mutation_p.A127V	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	127					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						GCAGGCCCGGGCGATGGCGTG	0.736			NA											4	3					0	0	0.000248	0	0
MMP7	4316	broad.mit.edu	37	11	102395788	102395788	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:102395788C>A	uc001phb.2	-	4	539	c.492G>T	c.(490-492)GGG>GGT	p.G164G	MMP7_uc009yxd.2_Silent_p.G164G	NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	164					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GGTAGGAGTCCCCATGAGCTG	0.443			NA											14	28					6.31663e-08	8.36391e-08	0.003163	1	0
DSCAML1	57453	broad.mit.edu	37	11	117389380	117389380	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:117389380G>A	uc001prh.1	-	7	1493	c.1491C>T	c.(1489-1491)CCC>CCT	p.P497P	DSCAML1_uc001pri.1_Silent_p.P301P	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	437	Extracellular (Potential).|Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGTGACCGTGGGGGGCGGGG	0.662			NA											10	27					0	0	0.008291	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984983	118984983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:118984983C>T	uc001pvo.2	+	13	2176	c.1817C>T	c.(1816-1818)TCG>TTG	p.S606L	C2CD2L_uc001pvn.2_Missense_Mutation_p.S607L	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	606						integral to membrane					0						ACAACCCGTTCGGATATTTCT	0.577			NA											7	179					0	0	0.001984	0	0
MCAM	4162	broad.mit.edu	37	11	119182596	119182596	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:119182596C>T	uc001pwf.2	-	10	1236	c.1207G>A	c.(1207-1209)GGC>AGC	p.G403S	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	403	Ig-like C2-type 2.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CGATAGCCGCCTCCTGCCTCC	0.617			NA											51	75					0	0	0.00361	0	0
UBASH3B	84959	broad.mit.edu	37	11	122680461	122680461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:122680461C>T	uc001pyi.3	+	14	2177	c.1817C>T	c.(1816-1818)CCA>CTA	p.P606L		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	606	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTTCAGATCCCATATCTGGGA	0.413			NA											15	26					0	0	0.00245	0	0
OR10G8	219869	broad.mit.edu	37	11	123901174	123901174	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:123901174T>C	uc001pzp.1	+	1	845	c.845T>C	c.(844-846)CTC>CCC	p.L282P		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACGCCCCTTCTCAACCCTGTT	0.468			NA											17	95					0	0	0.006122	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126283519	126283519	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:126283519G>T	uc001qds.2	+	10	1110	c.891G>T	c.(889-891)GAG>GAT	p.E297D	ST3GAL4_uc001qdt.2_Missense_Mutation_p.E293D|ST3GAL4_uc009zcc.2_Missense_Mutation_p.E133D|ST3GAL4_uc009zcd.2_Missense_Mutation_p.E286D|ST3GAL4_uc001qdu.2_Missense_Mutation_p.E293D|ST3GAL4_uc001qdv.2_Missense_Mutation_p.E297D|ST3GAL4_uc009zce.2_Missense_Mutation_p.E293D|ST3GAL4_uc001qdw.2_Missense_Mutation_p.E286D|ST3GAL4_uc001qdx.1_Intron|ST3GAL4_uc001qdy.2_Missense_Mutation_p.E133D|ST3GAL4_uc001qdz.2_Missense_Mutation_p.E133D	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	297	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		ACTACTATGAGCAGATCACGC	0.597			NA											19	68					4.96729e-08	6.60334e-08	0.008871	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781554	128781554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:128781554G>T	uc001qet.2	+	2	700	c.386G>T	c.(385-387)TGT>TTT	p.C129F	KCNJ5_uc009zck.2_Missense_Mutation_p.C129F|KCNJ5_uc001qew.2_Missense_Mutation_p.C129F	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	129	Extracellular (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)	TGGATTCCTTGTGTTGAAAAC	0.502	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)		NA											42	82					1.52319e-26	2.72142e-26	0.00874	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130319288	130319288	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:130319288C>T	uc010scd.1	+	1	420	c.420C>T	c.(418-420)CCC>CCT	p.P140P		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	140					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCCGCTGCCCAATGCTAGCG	0.706			NA											23	34					0	0	0.002299	0	0
SLC6A13	6540	broad.mit.edu	37	12	333641	333641	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:333641C>A	uc001qic.1	-	10	1152	c.1099G>T	c.(1099-1101)GTG>TTG	p.V367L	SLC6A13_uc009zdj.1_Missense_Mutation_p.V357L|SLC6A13_uc010sdl.1_Missense_Mutation_p.V275L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	367	Helical; Name=8; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGCATCACCACAGCCCGC	0.622			NA											10	55					3.86212e-05	4.60431e-05	0.008291	1	0
FOXM1	2305	broad.mit.edu	37	12	2968029	2968029	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:2968029A>G	uc001qlf.2	-	9	2332	c.2067T>C	c.(2065-2067)TTT>TTC	p.F689F	uc001qld.2_Intron|FOXM1_uc001qle.2_Silent_p.F727F|FOXM1_uc001qlg.2_Silent_p.F674F|FOXM1_uc009zea.2_Silent_p.F674F|FOXM1_uc009zeb.2_Silent_p.F673F	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 2	689					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AAGAGTTGCCAAAGGGGACGG	0.567			NA											8	60					0	0	0.00308	0	0
VWF	7450	broad.mit.edu	37	12	6182846	6182846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:6182846G>T	uc001qnn.1	-	8	1186	c.936C>A	c.(934-936)TGC>TGA	p.C312*	VWF_uc010set.1_Nonsense_Mutation_p.C312*	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	312	TIL 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCAGGCTCTGGCAGGTCCTGG	0.542			NA											12	75					9.05144e-12	1.33873e-11	0.001855	1	0
GPR162	27239	broad.mit.edu	37	12	6933684	6933684	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:6933684G>T	uc001qqw.1	+	2	1155	c.620G>T	c.(619-621)TGG>TTG	p.W207L	GPR162_uc010sfn.1_Missense_Mutation_p.W207L|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'UTR	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	207	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGACACTGTGGGCCCGGCCC	0.652			NA											14	77					2.61681e-11	3.82809e-11	0.00245	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:25398285C>A	uc001rgp.1	-	2	215	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	8					8.12818e-05	9.57097e-05	0.001984	1	0
PUS7L	83448	broad.mit.edu	37	12	44124184	44124184	+	Missense_Mutation	SNP	C	C	A	rs142156360		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:44124184C>A	uc001rnq.3	-	9	2590	c.2101G>T	c.(2101-2103)GTT>TTT	p.V701F	PUS7L_uc001rnr.3_Missense_Mutation_p.V701F|PUS7L_uc001rns.3_Missense_Mutation_p.V701F|PUS7L_uc009zkb.2_Missense_Mutation_p.V388F	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	701					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CAGTTTTAAACGTCATGCTTC	0.299			NA											13	16					5.50884e-06	6.75993e-06	0.001368	1	0
KRT5	3852	broad.mit.edu	37	12	52911448	52911448	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:52911448C>A	uc001san.2	-	5	1181	c.1018G>T	c.(1018-1020)GCT>TCT	p.A340S	KRT5_uc009zmh.2_Missense_Mutation_p.A340S	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	340	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGACCTCAGCGATGATGCTA	0.577			NA											19	127					2.39187e-15	3.80338e-15	0.008871	1	0
SMUG1	23583	broad.mit.edu	37	12	54577464	54577464	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:54577464T>A	uc001sff.1	-	3	390	c.261A>T	c.(259-261)GGA>GGT	p.G87G	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_Silent_p.G87G|SMUG1_uc001sfg.1_Silent_p.G87G|SMUG1_uc009znf.1_Silent_p.G87G|SMUG1_uc001sfb.3_Silent_p.G87G|SMUG1_uc001sfc.3_Silent_p.G87G|SMUG1_uc001sfd.3_Silent_p.G87G	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	87				Missing (in Ref. 3; BAC03670).|G->A,S: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A.|G->F: No damage-excising activity.	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						TGCCAAAAGGTCCAGGGTTCA	0.582			NA						BER_DNA_glycosylases					8	57					0	0	0.004482	0	0
ATP5B	506	broad.mit.edu	37	12	57033788	57033788	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:57033788G>A	uc001slr.2	-	8	1368	c.1263C>T	c.(1261-1263)GCC>GCT	p.A421A		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	421					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						GCACCCCACGGGCAACATCGT	0.502			NA											13	59					0	0	0.00245	0	0
CYP27B1	1594	broad.mit.edu	37	12	58160787	58160787	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:58160787T>C	uc001spz.1	-	1	190	c.38A>G	c.(37-39)CAT>CGT	p.H13R	CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_5'Flank|CYP27B1_uc001sqc.1_5'Flank	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	13					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGGACGCGATGGAACACTCT	0.617			NA											24	132					0	0	0.003954	0	0
SRGAP1	57522	broad.mit.edu	37	12	64519823	64519823	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:64519823T>G	uc010ssp.1	+	19	2347	c.2291T>G	c.(2290-2292)TTC>TGC	p.F764C	SRGAP1_uc001srv.2_Missense_Mutation_p.F701C	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	764	SH3.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GAACTATCCTTCAAGAAGGGT	0.512			NA											12	53					0	0	0.000978	0	0
NAP1L1	4673	broad.mit.edu	37	12	76444406	76444406	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:76444406C>G	uc001sxw.2	-	12	1376	c.964G>C	c.(964-966)GCA>CCA	p.A322P	NAP1L1_uc001sxv.2_Missense_Mutation_p.A280P|NAP1L1_uc001sxz.2_Missense_Mutation_p.A253P|NAP1L1_uc001sxx.2_Missense_Mutation_p.A322P|NAP1L1_uc001sxy.2_Missense_Mutation_p.A259P|NAP1L1_uc010sty.1_Missense_Mutation_p.A279P|NAP1L1_uc010stz.1_Missense_Mutation_p.A139P|NAP1L1_uc010sua.1_Missense_Mutation_p.A322P|NAP1L1_uc001syb.2_Missense_Mutation_p.A322P|NAP1L1_uc001sya.2_Missense_Mutation_p.A280P|NAP1L1_uc001syc.2_Missense_Mutation_p.A333P	NM_139207	NP_631946	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	322					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)				TCGAAGTCTGCAGCAAGGATA	0.348			NA											17	24					0	0	0.004007	0	0
MYBPC1	4604	broad.mit.edu	37	12	102071069	102071069	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:102071069G>T	uc001tii.2	+	26	3087	c.2985G>T	c.(2983-2985)TTG>TTT	p.L995F	MYBPC1_uc001tig.2_Missense_Mutation_p.L1002F|MYBPC1_uc010svq.1_Missense_Mutation_p.L964F|MYBPC1_uc001tih.2_Missense_Mutation_p.L1002F|MYBPC1_uc001tij.2_Missense_Mutation_p.L977F|MYBPC1_uc010svr.1_Missense_Mutation_p.L977F|MYBPC1_uc010svs.1_Missense_Mutation_p.L995F|MYBPC1_uc010svt.1_Missense_Mutation_p.L965F|MYBPC1_uc010svu.1_Missense_Mutation_p.L958F|MYBPC1_uc001tik.2_Missense_Mutation_p.L951F|MYBPC1_uc001til.2_Missense_Mutation_p.L20F|MYBPC1_uc001tim.2_Missense_Mutation_p.L20F	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	995	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						TTACTGAATTGGTCATAGGGA	0.408			NA											28	57					7.38237e-10	1.04792e-09	0.00632	1	0
WSCD2	9671	broad.mit.edu	37	12	108634140	108634140	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:108634140C>A	uc001tms.2	+	8	1908	c.1164C>A	c.(1162-1164)GAC>GAA	p.D388E	WSCD2_uc001tmt.2_Missense_Mutation_p.D388E|WSCD2_uc001tmu.2_Missense_Mutation_p.D136E	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	388						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						GTGAGCGGGACCACTGGCGCA	0.622			NA											11	144					7.93312e-07	1.00476e-06	0.00245	1	0
COQ5	84274	broad.mit.edu	37	12	120966864	120966864	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:120966864G>A	uc001tyn.2	-	1	101	c.81C>T	c.(79-81)CTC>CTT	p.L27L	COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Silent_p.L27L	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	27					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACGAAGCCCGAGGAGCTGGC	0.637			NA											9	71					0	0	0.008291	0	0
RNF34	80196	broad.mit.edu	37	12	121855448	121855448	+	Missense_Mutation	SNP	C	C	G	rs5801434		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:121855448C>G	uc001ual.1	+	3	481	c.367C>G	c.(367-369)CTG>GTG	p.L123V	RNF34_uc010szw.1_Missense_Mutation_p.L124V|RNF34_uc001uak.1_Missense_Mutation_p.L124V|RNF34_uc001uam.1_Missense_Mutation_p.L123V	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	123	SAP 1.				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GGTGAAGGACCTGCGGCAGTA	0.433			NA											16	54					0	0	0.003163	0	0
MMP17	4326	broad.mit.edu	37	12	132335517	132335517	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr12:132335517G>T	uc001ujc.1	+	10	1609	c.1510G>T	c.(1510-1512)GGC>TGC	p.G504C	MMP17_uc001ujd.1_Missense_Mutation_p.G420C	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	504	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		AGTGCTGGATGGCGAGCTGGA	0.652			NA											7	18					0.00621372	0.00695023	0.006214	1	0
SACS	26278	broad.mit.edu	37	13	23913373	23913373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:23913373C>A	uc001uon.2	-	10	5231	c.4642G>T	c.(4642-4644)GGA>TGA	p.G1548*	SACS_uc001uoo.2_Nonsense_Mutation_p.G1401*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1548					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)		TCAACTTCTCCCCTTTTTAAA	0.368			NA											15	42					1.5739e-10	2.2629e-10	0.004007	1	0
RFC3	5983	broad.mit.edu	37	13	34404941	34404941	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:34404941G>T	uc001uuz.2	+	6	769	c.659G>T	c.(658-660)TGT>TTT	p.C220F	RFC3_uc001uva.2_Missense_Mutation_p.C220F|RFC3_uc010ted.1_Missense_Mutation_p.C220F	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	220					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GAGAAGTCTTGTAGAAATCTC	0.383			NA											9	49					6.40141e-05	7.57764e-05	0.000978	1	0
DCLK1	9201	broad.mit.edu	37	13	36410270	36410270	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:36410270C>T	uc001uvf.2	-	8	1362	c.1129G>A	c.(1129-1131)GAG>AAG	p.E377K	DCLK1_uc001uve.3_Missense_Mutation_p.E70K|DCLK1_uc010teh.1_Missense_Mutation_p.E70K|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	377					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAGCCTTCCTCCGACACTTCT	0.358			NA											31	95					0	0	0.002836	0	0
SPG20	23111	broad.mit.edu	37	13	36909680	36909680	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:36909680C>A	uc001uvn.2	-	3	558	c.288G>T	c.(286-288)GAG>GAT	p.E96D	SPG20_uc010ten.1_Missense_Mutation_p.E96D|SPG20_uc001uvm.2_Missense_Mutation_p.E96D|SPG20_uc001uvo.2_Missense_Mutation_p.E96D|SPG20_uc001uvq.2_Missense_Mutation_p.E96D|SPG20_uc001uvp.2_Missense_Mutation_p.E96D	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	96					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAAGACCCTTCTCTAGAATTT	0.448			NA											23	72					5.35047e-06	6.58973e-06	0.00333	1	0
TRPC4	7223	broad.mit.edu	37	13	38320488	38320488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:38320488C>A	uc001uws.2	-	3	718	c.483G>T	c.(481-483)TTG>TTT	p.L161F	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.L161F|TRPC4_uc010tey.1_Missense_Mutation_p.L161F|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Missense_Mutation_p.L161F|TRPC4_uc010aby.2_Missense_Mutation_p.L161F	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	161	Cytoplasmic (Potential).|ANK 4.|Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTTCTGAACCAAGAGTTTTA	0.463			NA											36	112					3.78316e-11	5.4983e-11	0.00623	1	0
COG6	57511	broad.mit.edu	37	13	40233511	40233511	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:40233511A>T	uc001uxh.2	+	2	264	c.164A>T	c.(163-165)GAA>GTA	p.E55V	COG6_uc001uxi.2_Missense_Mutation_p.E3V|COG6_uc010acb.2_Missense_Mutation_p.E55V	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	55					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GAGATGTTAGAAGCTCTCAAG	0.323			NA											6	26					0	0	0.001168	0	0
COG6	57511	broad.mit.edu	37	13	40261879	40261879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:40261879G>T	uc001uxh.2	+	10	1052	c.952G>T	c.(952-954)GCT>TCT	p.A318S	COG6_uc001uxi.2_Missense_Mutation_p.A266S|COG6_uc010acb.2_Missense_Mutation_p.A318S	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	318					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GCTCCATCAAGCTACTGCTTC	0.378			NA											24	48					4.7796e-09	6.63009e-09	0.004656	1	0
LCP1	3936	broad.mit.edu	37	13	46716508	46716508	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:46716508G>A	uc001vaz.3	-	13	1547	c.1421C>T	c.(1420-1422)TCC>TTC	p.S474F	LCP1_uc010ack.2_Missense_Mutation_p.S43F|LCP1_uc001vay.3_Missense_Mutation_p.S71F|LCP1_uc001vba.3_Missense_Mutation_p.S474F	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	474	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GCCAACCAGGGAGAACTTCGC	0.438			NA	T	BCL6	NHL 								21	47					0	0	0.002299	0	0
SETDB2	83852	broad.mit.edu	37	13	50034254	50034254	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:50034254A>G	uc001vcz.2	+	3	934	c.28A>G	c.(28-30)ACT>GCT	p.T10A	SETDB2_uc010adg.2_5'UTR|SETDB2_uc001vcy.3_Missense_Mutation_p.T10A|SETDB2_uc010adh.2_Missense_Mutation_p.T10A|SETDB2_uc001vda.2_Missense_Mutation_p.T10A	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	10					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CGATGCAAAAACTTTCTGGAT	0.328			NA											50	108					0	0	0.00361	0	0
ATP7B	540	broad.mit.edu	37	13	52544664	52544664	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:52544664C>A	uc001vfw.2	-	3	1664	c.1507G>T	c.(1507-1509)GTG>TTG	p.V503L	ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.V503L|ATP7B_uc001vfy.2_Missense_Mutation_p.V392L|ATP7B_uc010tgt.1_Missense_Mutation_p.V503L|ATP7B_uc010tgu.1_Missense_Mutation_p.V503L|ATP7B_uc010tgv.1_Missense_Mutation_p.V503L|ATP7B_uc010tgw.1_Missense_Mutation_p.V471L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	503	HMA 5.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ATGTTAGACACACAGGATGCA	0.488			NA							Wilson_disease				40	160					1.03484e-13	1.60495e-13	0.005524	1	0
KLF5	688	broad.mit.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:73649905G>A	uc001vje.2	+	4	1579	c.1255G>A	c.(1255-1257)GAG>AAG	p.E419K	KLF5_uc001vjd.2_Missense_Mutation_p.E328K	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	419	C2H2-type 2.				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592			NA											14	50					0	0	0.004007	0	0
DOCK9	23348	broad.mit.edu	37	13	99549811	99549811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:99549811G>A	uc001vnt.2	-	15	1698	c.1643C>T	c.(1642-1644)GCC>GTC	p.A548V	DOCK9_uc001vnw.2_Missense_Mutation_p.A547V|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.A548V|DOCK9_uc010tis.1_Missense_Mutation_p.A547V|DOCK9_uc010tit.1_Missense_Mutation_p.A548V|DOCK9_uc010afu.1_Missense_Mutation_p.A363V	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	548					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTGTAGATGGCAGAAAATCT	0.398			NA											57	198					0	0	0.00361	0	0
NALCN	259232	broad.mit.edu	37	13	101736089	101736089	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:101736089G>C	uc001vox.1	-	31	3745	c.3556C>G	c.(3556-3558)CAG>GAG	p.Q1186E		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1186	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAGAGGCTGTGCGATCTTC	0.498			NA											14	41					0	0	0.00245	0	0
NALCN	259232	broad.mit.edu	37	13	101890140	101890140	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:101890140G>A	uc001vox.1	-	12	1589	c.1400C>T	c.(1399-1401)CCA>CTA	p.P467L	NALCN_uc001voy.2_Missense_Mutation_p.P182L|NALCN_uc001voz.2_Missense_Mutation_p.P467L|NALCN_uc001vpa.2_Missense_Mutation_p.P467L	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	467	Helical; Name=S3 of repeat II; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAAGATCTGGGTATACATG	0.323			NA											16	228					0	0	0.00499	0	0
ERCC5	2073	broad.mit.edu	37	13	103527858	103527858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:103527858C>T	uc001vpw.2	+	15	3609	c.3166C>T	c.(3166-3168)CAG>TAG	p.Q1056*		NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	1056					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGAAAAACCCAGAAGAGAGG	0.408			NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				25	102					0	0	0.00333	0	0
F7	2155	broad.mit.edu	37	13	113768231	113768231	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:113768231C>T	uc001vsv.2	+	5	438	c.387C>T	c.(385-387)ATC>ATT	p.I129I	F7_uc010agp.1_Silent_p.I122I|F7_uc001vsw.2_Silent_p.I107I|F7_uc010tjt.1_Silent_p.I60I	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	129	EGF-like 1; calcium-binding (Potential).				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGTCCTATATCTGCTTCTGCC	0.602			NA											5	89					0	0	0.001168	0	0
CUL4A	8451	broad.mit.edu	37	13	113887578	113887578	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:113887578C>T	uc010tjy.1	+	7	611	c.600C>T	c.(598-600)ATC>ATT	p.I200I	CUL4A_uc010tjx.1_Silent_p.I100I|CUL4A_uc010agu.2_Silent_p.I61I|CUL4A_uc001vtl.1_5'Flank	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	200					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TACTGCTGATCGAGCGCGAGA	0.512			NA											7	64					0	0	0.001984	0	0
RASA3	22821	broad.mit.edu	37	13	114748770	114748770	+	Silent	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:114748770A>T	uc001vui.2	-	24	2624	c.2493T>A	c.(2491-2493)ACT>ACA	p.T831T	RASA3_uc010tkk.1_Silent_p.T799T|RASA3_uc001vuj.2_Silent_p.T448T	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	831					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AAATGGAATGAGTGGAGGTCT	0.592			NA											24	59					0	0	0.002836	0	0
RASA3	22821	broad.mit.edu	37	13	114780772	114780772	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr13:114780772C>T	uc001vui.2	-	14	1449	c.1318G>A	c.(1318-1320)GCC>ACC	p.A440T	RASA3_uc010tkk.1_Missense_Mutation_p.A408T|RASA3_uc001vuj.2_Missense_Mutation_p.A57T	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	440	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCAGTGATGGCGTGGAAGACG	0.647			NA											10	81					0	0	0.008291	0	0
OR4K17	390436	broad.mit.edu	37	14	20586569	20586569	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:20586569C>A	uc001vwo.1	+	1	1004	c.1004C>A	c.(1003-1005)GCT>GAT	p.A335D		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTCTGGAGAGCTTTTGTGAAT	0.229			NA											13	15					1.05317e-09	1.48866e-09	0.00245	1	0
MYH6	4624	broad.mit.edu	37	14	23869595	23869595	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:23869595T>A	uc001wjv.2	-	14	1518	c.1451A>T	c.(1450-1452)GAG>GTG	p.E484V	MYH6_uc010akp.1_Missense_Mutation_p.E484V	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	484	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCAGCTTCTCGTTGGTGAA	0.537			NA											26	37					0	0	0.004656	0	0
SDCCAG1	9147	broad.mit.edu	37	14	50280705	50280705	+	Splice_Site	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:50280705C>A	uc001wxc.2	-	18	1812	c.1744_splice	c.e18+1	p.G582_splice	SDCCAG1_uc010anj.1_Splice_Site_p.G582_splice|SDCCAG1_uc010tqi.1_Intron|SDCCAG1_uc001wxe.2_Splice_Site_p.G540_splice|SDCCAG1_uc001wxd.1_Splice_Site	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1							cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		AAATATATTACCTGTTGGATT	0.264			NA											13	18					0.000151284	0.000176895	0.001855	1	0
SPTB	6710	broad.mit.edu	37	14	65239306	65239306	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:65239306C>A	uc001xht.2	-	25	5599	c.5545G>T	c.(5545-5547)GGT>TGT	p.G1849C	SPTB_uc001xhr.2_Missense_Mutation_p.G1849C|SPTB_uc001xhs.2_Missense_Mutation_p.G1849C|SPTB_uc001xhu.2_Missense_Mutation_p.G1849C|SPTB_uc010aqi.2_Missense_Mutation_p.G510C	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1849	Spectrin 15.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCTGGACACCCAGCAGGTGG	0.667			NA											13	12					3.27435e-08	4.39643e-08	0.00245	1	0
VSX2	338917	broad.mit.edu	37	14	74726376	74726376	+	Silent	SNP	G	G	T	rs150792267	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:74726376G>T	uc001xpq.2	+	4	741	c.651G>T	c.(649-651)GCG>GCT	p.A217A		NM_182894	NP_878314	P58304	VSX2_HUMAN	visual system homeobox 2	217	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GTGTCATGGCGGAGTATGGGC	0.627			NA											17	30					2.94398e-08	3.96875e-08	0.007413	1	0
LTBP2	4053	broad.mit.edu	37	14	75022254	75022254	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:75022254C>G	uc001xqa.2	-	4	1360	c.973G>C	c.(973-975)GAT>CAT	p.D325H		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	325					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGGTGCCATCTCTCTGCTCA	0.632			NA											29	44					0	0	0.002096	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739806	91739806	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:91739806G>T	uc010aty.2	-	30	5349	c.5250C>A	c.(5248-5250)TAC>TAA	p.Y1750*	CCDC88C_uc001xzj.2_Nonsense_Mutation_p.Y274*|CCDC88C_uc001xzi.2_Nonsense_Mutation_p.Y200*	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1750					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TTGGCTTTACGTACTGCCCGG	0.667			NA											9	10					1.76689e-08	2.39639e-08	0.006214	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756459	94756459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr14:94756459G>T	uc001yct.2	-	2	938	c.472C>A	c.(472-474)CTG>ATG	p.L158M	SERPINA10_uc001ycu.3_Missense_Mutation_p.L158M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	158					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GTGAGGCCCAGTTCCAGGTTG	0.522			NA											29	41					9.65021e-13	1.45622e-12	0.002096	1	0
MKRN3	7681	broad.mit.edu	37	15	23811369	23811369	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:23811369C>A	uc001ywh.3	+	1	916	c.440C>A	c.(439-441)GCG>GAG	p.A147E	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.A147E	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	147						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCACGGCTGCGCACATCGAG	0.632			NA											7	29					5.18039e-06	6.4038e-06	0.00308	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890121	23890121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:23890121C>A	uc001ywj.3	-	1	1055	c.960G>T	c.(958-960)GAG>GAT	p.E320D		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCTTTGGACCTCCCAGTCAC	0.612			NA											10	59					1.58986e-06	1.99104e-06	0.008291	1	0
HERC2	8924	broad.mit.edu	37	15	28420692	28420692	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:28420692G>A	uc001zbj.2	-	64	9903	c.9797C>T	c.(9796-9798)GCC>GTC	p.A3266V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3266	RCC1 11.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGTGCAGGGCCCCGACAGC	0.642			NA											7	17					0	0	0.001984	0	0
HERC2	8924	broad.mit.edu	37	15	28437249	28437249	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:28437249C>A	uc001zbj.2	-	53	8415	c.8309G>T	c.(8308-8310)TGC>TTC	p.C2770F	HERC2_uc001zbk.1_Missense_Mutation_p.C305F	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2770	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGCTGTGGCAACGCTTCAG	0.527			NA									OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	137					1.61788e-16	2.62465e-16	0.002445	1	0
HERC2	8924	broad.mit.edu	37	15	28508211	28508211	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:28508211C>G	uc001zbj.2	-	15	2081	c.1975G>C	c.(1975-1977)GTG>CTG	p.V659L	HERC2_uc001zbl.1_Missense_Mutation_p.V354L	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	659	RCC1 3.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTTTGACCACATCCAAGTCT	0.473			NA											11	51					0	0	0.001368	0	0
TRPM1	4308	broad.mit.edu	37	15	31362303	31362303	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:31362303G>A	uc001zfm.2	-	3	272	c.144C>T	c.(142-144)ACC>ACT	p.T48T	TRPM1_uc010azy.2_5'Flank|TRPM1_uc001zfl.2_5'Flank|TRPM1_uc001zfn.3_Silent_p.T48T|uc010ubn.1_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	48	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGTAGCTCTGGGTGTGCTTGG	0.493			NA											98	334					0	0	0.00361	0	0
AQR	9716	broad.mit.edu	37	15	35174838	35174838	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:35174838T>A	uc001ziv.2	-	27	3211	c.3030A>T	c.(3028-3030)GAA>GAT	p.E1010D		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1010						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGCTCTGAATTCCTATGGAA	0.378			NA											7	30					0	0	0.004482	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40269028	40269028	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:40269028C>G	uc001zkm.1	+	12	2282	c.2232C>G	c.(2230-2232)GTC>GTG	p.V744V	EIF2AK4_uc010bbj.1_Silent_p.V473V	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	744	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACGGTGGCGTCTTCTCCCAGT	0.567			NA											9	64					0	0	0.008291	0	0
SPTBN5	51332	broad.mit.edu	37	15	42143102	42143102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:42143102G>T	uc001zos.2	-	66	11099	c.10766C>A	c.(10765-10767)CCG>CAG	p.P3589Q		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3624	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTCTTCGGACGGTGCTGCAAA	0.682			NA											3	6					0.000602214	0.000689716	0.000602	1	0
HAUS2	55142	broad.mit.edu	37	15	42850469	42850469	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:42850469T>G	uc001zqe.2	+	2	227	c.167T>G	c.(166-168)ATT>AGT	p.I56S	HAUS2_uc010udi.1_Intron|HAUS2_uc001zqf.2_Intron	NM_018097	NP_060567	Q9NVX0	HAUS2_HUMAN	centrosomal protein 27kDa isoform 1	56	Potential.				cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle					0						ATCACAAATATTCAAGCTGAA	0.229			NA											6	15					0	0	0.004482	0	0
TGM7	116179	broad.mit.edu	37	15	43568737	43568737	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:43568737C>A	uc001zrf.1	-	13	2054	c.2049G>T	c.(2047-2049)CAG>CAT	p.Q683H		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	683					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GAACCTGGAGCTGGCGGGGTC	0.582			NA											30	99					1.45844e-13	2.2567e-13	0.002836	1	0
TRPM7	54822	broad.mit.edu	37	15	50886737	50886737	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:50886737A>T	uc001zyt.3	-	24	3628	c.3364T>A	c.(3364-3366)TAT>AAT	p.Y1122N	TRPM7_uc010bew.1_Missense_Mutation_p.Y1122N	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1122	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCTCATGATAAGCCATAATA	0.323			NA											10	49					0	0	0.006214	0	0
AP4E1	23431	broad.mit.edu	37	15	51250970	51250970	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:51250970C>T	uc001zyx.1	+	14	1860	c.1830C>T	c.(1828-1830)GAC>GAT	p.D610D		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	610					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTCCAGTTGACAGGAGTTGTG	0.348			NA											11	49					0	0	0.000978	0	0
NARG2	79664	broad.mit.edu	37	15	60760341	60760341	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:60760341C>A	uc002agp.2	-	4	562	c.327G>T	c.(325-327)GTG>GTT	p.V109V	NARG2_uc002ago.2_5'UTR|NARG2_uc010bgk.2_Silent_p.V109V|NARG2_uc002agr.1_Silent_p.V109V	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	109						nucleus				ovary(1)|lung(1)	2						CCAACAAGTCCACATAACTCC	0.368			NA											9	27					3.09899e-07	3.97762e-07	0.004482	1	0
HERC1	8925	broad.mit.edu	37	15	63978575	63978575	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:63978575C>A	uc002amp.2	-	34	6356	c.6208G>T	c.(6208-6210)GGG>TGG	p.G2070W		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2070	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TGATAGCACCCAGAAGTTACT	0.398			NA											22	147					7.87624e-14	1.22723e-13	0.00278	1	0
ZNF609	23060	broad.mit.edu	37	15	64966165	64966165	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:64966165G>T	uc002ann.2	+	4	1112	c.1112G>T	c.(1111-1113)AGA>ATA	p.R371I		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	371						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GGCCGGGGTAGAGGCAAACGC	0.498			NA											14	80					2.32078e-09	3.25298e-09	0.003163	1	0
PML	5371	broad.mit.edu	37	15	74337282	74337282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:74337282G>T	uc002awv.2	+	9	2722	c.2582G>T	c.(2581-2583)CGG>CTG	p.R861L	PML_uc002awu.2_Missense_Mutation_p.R813L|PML_uc010ule.1_Missense_Mutation_p.R422L	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	861					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCGCTGGCACGGGCAGAAGGA	0.652			NA	T	RARA|PAX5	APL|ALL								10	66					9.70103e-10	1.37414e-09	0.008291	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79058942	79058942	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:79058942G>C	uc002bej.3	-	19	3522	c.3311C>G	c.(3310-3312)GCG>GGG	p.A1104G	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CGTGGAGGGCGCAGCAGGATG	0.677			NA											4	27					0	0	0.000248	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs144043775	by1000genomes	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:79059040A>G	uc002bej.3	-	19	3424	c.3213T>C	c.(3211-3213)AAT>AAC	p.N1071N	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCTCGTGGAAATTGATGAAAT	0.617			NA											5	56					0	0	0.001168	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059831	79059831	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:79059831T>A	uc002bej.3	-	18	2960	c.2749A>T	c.(2749-2751)AGC>TGC	p.S917C	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	917	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						TCCAGGGCGCTCTGCTCATCC	0.701			NA											8	13					0	0	0.00308	0	0
AGBL1	123624	broad.mit.edu	37	15	86807859	86807859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:86807859C>A	uc002blz.1	+	10	1399	c.1319C>A	c.(1318-1320)ACT>AAT	p.T440N	AGBL1_uc002bma.1_Missense_Mutation_p.T171N|AGBL1_uc002bmb.1_Missense_Mutation_p.T134N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	440					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						TCTAATTCCACTAGGACTAGA	0.458			NA											21	101					6.44725e-10	9.17125e-10	0.002299	1	0
SLCO3A1	28232	broad.mit.edu	37	15	92459340	92459340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:92459340G>T	uc002bqx.2	+	2	499	c.298G>T	c.(298-300)GGG>TGG	p.G100W	SLCO3A1_uc002bqy.2_Missense_Mutation_p.G100W|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.G42W	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	100	Helical; Name=2; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GAGCTACTTCGGGGCACGCGG	0.672			NA											10	37					7.48243e-07	9.49475e-07	0.006214	1	0
IGF1R	3480	broad.mit.edu	37	15	99251273	99251273	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr15:99251273G>A	uc002bul.2	+	2	627	c.577G>A	c.(577-579)GAG>AAG	p.E193K	IGF1R_uc010urq.1_Missense_Mutation_p.E193K|IGF1R_uc010bon.2_Missense_Mutation_p.E193K	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	193					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCCGATGTGTGAGAAGACCAC	0.478			NA											5	63					0	0	0.001984	0	0
PDIA2	64714	broad.mit.edu	37	16	335128	335128	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:335128C>G	uc002cgn.1	+	10	1831	c.723C>G	c.(721-723)GGC>GGG	p.G241G	PDIA2_uc010bqt.1_Silent_p.G86G|PDIA2_uc002cgo.1_Silent_p.G241G	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	241					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGGAGCTTGGCCTGGACCTGG	0.662			NA											9	27					0	0	0.004482	0	0
ZNF200	7752	broad.mit.edu	37	16	3274184	3274184	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:3274184T>A	uc002cuj.2	-	5	1528	c.896A>T	c.(895-897)GAG>GTG	p.E299V	ZNF200_uc002cum.3_Missense_Mutation_p.E298V|ZNF200_uc010bti.2_Missense_Mutation_p.E298V|ZNF200_uc002cuk.2_Missense_Mutation_p.E299V|ZNF200_uc002cui.2_Missense_Mutation_p.E298V|ZNF200_uc002cul.3_Missense_Mutation_p.E298V	NM_003454	NP_003445	P98182	ZN200_HUMAN	zinc finger protein 200 isoform 1	299	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						ATGAATTCGCTCATGTTTATT	0.413			NA											26	82					0	0	0.004656	0	0
OR2C1	4993	broad.mit.edu	37	16	3406235	3406235	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:3406235A>G	uc002cuw.1	+	1	347	c.295A>G	c.(295-297)ACC>GCC	p.T99A		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGGCTGCATAACCCAGCTCTA	0.567			NA											8	70					0	0	0.00308	0	0
A2BP1	54715	broad.mit.edu	37	16	7703849	7703849	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:7703849G>T	uc002cys.2	+	12	1778	c.790G>T	c.(790-792)GCG>TCG	p.A264S	A2BP1_uc010buf.1_Missense_Mutation_p.A264S|A2BP1_uc002cyr.1_Missense_Mutation_p.A263S|A2BP1_uc002cyt.2_Missense_Mutation_p.A237S|A2BP1_uc010uxz.1_Missense_Mutation_p.A307S|A2BP1_uc010uya.1_Missense_Mutation_p.A221S|A2BP1_uc002cyv.1_Missense_Mutation_p.A264S|A2BP1_uc010uyb.1_Missense_Mutation_p.A264S|A2BP1_uc002cyw.2_Missense_Mutation_p.A284S|A2BP1_uc002cyy.2_Missense_Mutation_p.A284S|A2BP1_uc002cyx.2_Missense_Mutation_p.A284S|A2BP1_uc010uyc.1_Missense_Mutation_p.A257S	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	264					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		AGCCACCGCCGCGGCCGCCTA	0.597			NA											17	63					2.37509e-13	3.63313e-13	0.001523	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857957	9857957	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:9857957C>T	uc002czo.3	-	13	3992	c.3444G>A	c.(3442-3444)CCG>CCA	p.P1148P	GRIN2A_uc010uym.1_Silent_p.P1148P|GRIN2A_uc010uyn.1_Silent_p.P991P|GRIN2A_uc002czr.3_Silent_p.P1148P	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1148	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTAGGGGTCCGGGAAGTCCA	0.527			NA											50	124					0	0	0.00361	0	0
CLEC16A	23274	broad.mit.edu	37	16	11118744	11118744	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:11118744G>C	uc002dao.2	+	13	1733	c.1503G>C	c.(1501-1503)GTG>GTC	p.V501V	CLEC16A_uc002dan.3_Silent_p.V483V	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	501								p.0?(1)		ovary(1)|central_nervous_system(1)	2						CCCTGTTCGTGCTCTGCCTCC	0.547			NA											9	10					0	0	0.006214	0	0
XYLT1	64131	broad.mit.edu	37	16	17211743	17211743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:17211743C>A	uc002dfa.2	-	11	2402	c.2317G>T	c.(2317-2319)GGG>TGG	p.G773W		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	773	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GGTCCCTTCCCCCACTTCTGC	0.567			NA											23	64					2.89027e-11	4.20974e-11	0.002299	1	0
GP2	2813	broad.mit.edu	37	16	20335250	20335250	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:20335250C>A	uc002dgv.2	-	3	506	c.423G>T	c.(421-423)TGG>TGT	p.W141C	GP2_uc002dgw.2_Missense_Mutation_p.W141C|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	141						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						AGTTGCCACTCCAATGGGCAC	0.592			NA											24	66					5.35356e-11	7.74705e-11	0.00278	1	0
DNAH3	55567	broad.mit.edu	37	16	21033313	21033313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:21033313C>A	uc010vbe.1	-	40	5756	c.5756G>T	c.(5755-5757)AGA>ATA	p.R1919I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1919					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGAGTACAGTCTCATCATTGA	0.423			NA											19	38					8.10497e-08	1.07107e-07	0.001523	1	0
TNRC6A	27327	broad.mit.edu	37	16	24801933	24801933	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:24801933A>T	uc002dmm.2	+	6	2084	c.1970A>T	c.(1969-1971)AAT>ATT	p.N657I	TNRC6A_uc010bxs.2_Missense_Mutation_p.N404I|TNRC6A_uc010vcc.1_Missense_Mutation_p.N404I|TNRC6A_uc002dmn.2_Missense_Mutation_p.N404I|TNRC6A_uc002dmo.2_Missense_Mutation_p.N404I	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	657	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TCTCAGACAAATGAGCAAAGC	0.468			NA											21	29					0	0	0.002299	0	0
IL21R	50615	broad.mit.edu	37	16	27460293	27460293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:27460293C>A	uc002doq.1	+	9	1539	c.1306C>A	c.(1306-1308)CCT>ACT	p.P436T	IL21R_uc002dor.1_Missense_Mutation_p.P436T|IL21R_uc002dos.1_Missense_Mutation_p.P436T|uc002dot.2_RNA	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	436	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						AGCTGGCAGCCCTGGGCTAGG	0.672			NA	T	BCL6	NHL								28	61					1.75199e-13	2.68611e-13	0.007291	1	0
SBK1	388228	broad.mit.edu	37	16	28328794	28328794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:28328794G>T	uc002dpd.2	+	2	871	c.82G>T	c.(82-84)GGT>TGT	p.G28C		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	28						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						GCCTGGTGCCGGTGTGCCCCT	0.672			NA									OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	67					4.72057e-08	6.28784e-08	0.003954	1	0
BBS2	583	broad.mit.edu	37	16	56545071	56545071	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:56545071C>G	uc002ejd.2	-	3	705	c.471G>C	c.(469-471)ACG>ACC	p.T157T	BBS2_uc010ccg.2_Silent_p.T157T	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	157					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TTCTTCATACCGTCCAAAAGA	0.363			NA							Bardet-Biedl_syndrome				19	30					0	0	0.001523	0	0
PSMB10	5699	broad.mit.edu	37	16	67969891	67969891	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:67969891G>T	uc002eux.1	-	4	459	c.358C>A	c.(358-360)CGC>AGC	p.R120S		NM_002801	NP_002792	P40306	PSB10_HUMAN	proteasome beta 10 subunit proprotein	120					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|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CGCAGGATGCGAGTGACCGTG	0.662			NA											17	17					7.05477e-17	1.1585e-16	0.00499	1	0
HYDIN	54768	broad.mit.edu	37	16	70986483	70986483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr16:70986483G>T	uc002ezr.2	-	41	6497	c.6369C>A	c.(6367-6369)GAC>GAA	p.D2123E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2124										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGCCCAAGGTGTCAGTGCTCA	0.498			NA											11	33					3.86212e-05	4.60431e-05	0.008291	1	0
PRPF8	10594	broad.mit.edu	37	17	1554421	1554421	+	Silent	SNP	C	C	A	rs147050234		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:1554421C>A	uc002fte.2	-	42	6948	c.6834G>T	c.(6832-6834)TCG>TCT	p.S2278S	RILP_uc002ftd.2_5'Flank	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	2278						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTAGTTCCACGAGGACTGGG	0.577			NA											15	20					1.3612e-06	1.71108e-06	0.003163	1	0
RICH2	9912	broad.mit.edu	37	17	12844441	12844441	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:12844441G>T	uc002gnr.3	+	8	978	c.651G>T	c.(649-651)ACG>ACT	p.T217T	RICH2_uc010vvk.1_Silent_p.T217T|RICH2_uc010vvl.1_Silent_p.T217T|RICH2_uc002gns.3_Silent_p.T17T|RICH2_uc010vvm.1_Silent_p.T217T|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	217	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						ACTTTCAAACGGTAAGTGCCC	0.403			NA											22	29					2.21704e-12	3.31566e-12	0.00278	1	0
FLCN	201163	broad.mit.edu	37	17	17117142	17117142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:17117142T>A	uc002gra.3	-	14	2071	c.1567A>T	c.(1567-1569)AAG>TAG	p.K523*	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	523					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						CTGTCCACCTTGGTGAACTTA	0.522			NA							Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				33	93					0	0	0.003271	0	0
NOS2	4843	broad.mit.edu	37	17	26109099	26109099	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:26109099C>T	uc002gzu.2	-	7	928	c.664G>A	c.(664-666)GAA>AAA	p.E222K	NOS2_uc010crh.1_Missense_Mutation_p.E222K|NOS2_uc010wab.1_Missense_Mutation_p.E222K	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	222					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCAAACATTTCCCGGGCAGTG	0.557			NA											11	40					0	0	0.000978	0	0
PIGS	94005	broad.mit.edu	37	17	26890891	26890891	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:26890891G>T	uc002hbo.2	-	4	694	c.321C>A	c.(319-321)GCC>GCA	p.A107A	PIGS_uc002hbn.2_Silent_p.A99A|PIGS_uc010wap.1_Silent_p.A46A	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	107	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					CCCTCCGATAGGCCTTCTGGA	0.507			NA											38	108					8.01111e-26	1.41996e-25	0.002522	1	0
LRRC37B	114659	broad.mit.edu	37	17	30348293	30348293	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:30348293G>T	uc002hgu.2	+	1	139	c.128G>T	c.(127-129)GGG>GTG	p.G43V	LRRC37B_uc010wbx.1_Intron|LRRC37B_uc010csu.2_Missense_Mutation_p.G43V	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	43	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AACCCCCTGGGGCCACCTGAG	0.622			NA											25	117					4.26978e-12	6.35722e-12	0.00333	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183195	39183195	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:39183195G>A	uc002hvu.2	-	1	260	c.213C>T	c.(211-213)TGC>TGT	p.C71C		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	71	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTTGGCTGGCAGCAGCTGG	0.612			NA											21	63					0	0	0.008871	0	0
KRT34	3885	broad.mit.edu	37	17	39535834	39535834	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:39535834C>G	uc002hwm.2	-	4	876	c.864G>C	c.(862-864)TGG>TGC	p.W288C		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	288	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				GCGTGGCGAACCATTGCTCCA	0.592			NA											17	127					0	0	0.00499	0	0
EZH1	2145	broad.mit.edu	37	17	40858171	40858171	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:40858171T>C	uc002iaz.2	-	16	1838	c.1693A>G	c.(1693-1695)ACC>GCC	p.T565A	EZH1_uc002iba.2_Missense_Mutation_p.T556A|EZH1_uc010wgt.1_Missense_Mutation_p.T495A|EZH1_uc010wgu.1_Missense_Mutation_p.T571A|EZH1_uc010wgv.1_Missense_Mutation_p.T525A|EZH1_uc010wgw.1_Missense_Mutation_p.T426A|EZH1_uc010cyp.2_Missense_Mutation_p.T466A|EZH1_uc010cyq.2_Missense_Mutation_p.T482A|EZH1_uc010cyo.1_Missense_Mutation_p.T228A	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	565	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGCACTGGGTCTTACAGCGA	0.517			NA											6	101					0	0	0.001984	0	0
BRCA1	672	broad.mit.edu	37	17	41209101	41209101	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:41209101G>A	uc002icq.2	-	19	5477	c.5245C>T	c.(5245-5247)CCA>TCA	p.P1749S	BRCA1_uc010whp.1_Missense_Mutation_p.P598S|BRCA1_uc010whl.1_Missense_Mutation_p.P645S|BRCA1_uc010whm.1_Missense_Mutation_p.P59S|BRCA1_uc002icp.3_Missense_Mutation_p.P1678S|BRCA1_uc002icu.2_Missense_Mutation_p.P645S|BRCA1_uc010cyx.2_Missense_Mutation_p.P1702S|BRCA1_uc002ict.2_Missense_Mutation_p.P1770S|BRCA1_uc010whn.1_Missense_Mutation_p.P240S|BRCA1_uc010who.1_Intron	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1749			P -> R (in ovarian cancer; could be a polymorphism; abolishes ACACA binding and strongly reduces BRIP1 binding).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTCGCTTTGGACCTTGGTGG	0.463			NA	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			40	242					0	0	0.002222	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328949	42328949	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:42328949G>C	uc002igf.3	-	18	2468	c.2319C>G	c.(2317-2319)TCC>TCG	p.S773S		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	773	Helical; (Potential).|Membrane (anion exchange).		S -> P (in AR-dRTA; with normal red cell morphology).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATGAGGATGGACAGGCCTG	0.627			NA											11	34					0	0	0.000978	0	0
HOXB3	3213	broad.mit.edu	37	17	46627892	46627892	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:46627892C>A	uc002inn.2	-	2	1500	c.1100G>T	c.(1099-1101)GGC>GTC	p.G367V	HOXB3_uc010wlm.1_Missense_Mutation_p.G294V|HOXB3_uc010dbf.2_Missense_Mutation_p.G367V|HOXB3_uc010dbg.2_Missense_Mutation_p.G367V|HOXB3_uc002ino.2_Missense_Mutation_p.G367V|HOXB3_uc010wlk.1_Missense_Mutation_p.G235V|HOXB3_uc010wll.1_Missense_Mutation_p.G294V	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	367					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAGGGAGGGGCCGGCAGGGGG	0.716			NA									OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	29					1.5739e-10	2.2629e-10	0.004007	1	0
SPATA20	64847	broad.mit.edu	37	17	48628411	48628411	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:48628411T>C	uc002irf.2	+	11	1529	c.1388T>C	c.(1387-1389)CTG>CCG	p.L463P	SPATA20_uc002irc.2_Missense_Mutation_p.L130P|SPATA20_uc002ire.2_Missense_Mutation_p.L419P|SPATA20_uc002ird.2_Missense_Mutation_p.L479P|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	463					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGTACTCGCTGGAGCTGACT	0.642			NA									OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	36					0	0	0.000978	0	0
AKAP1	8165	broad.mit.edu	37	17	55183651	55183651	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:55183651C>G	uc002iux.2	+	2	1057	c.826C>G	c.(826-828)CAC>GAC	p.H276D	AKAP1_uc010wnl.1_Missense_Mutation_p.H276D|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.H276D	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	276					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					CGAGTCGGCTCACACAGAGCT	0.582			NA											22	97					0	0	0.00278	0	0
TEX14	56155	broad.mit.edu	37	17	56665328	56665328	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:56665328A>T	uc010dcz.1	-	16	2767	c.2649T>A	c.(2647-2649)AGT>AGA	p.S883R	TEX14_uc002iwr.1_Missense_Mutation_p.S877R|TEX14_uc002iws.1_Missense_Mutation_p.S877R|TEX14_uc010dda.1_Missense_Mutation_p.S657R	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	883						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGAGTGcactattaaact	0.279			NA									OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	56					0	0	0.000978	0	0
TBX4	9496	broad.mit.edu	37	17	59556073	59556073	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:59556073C>A	uc002izi.2	+	5	680	c.635C>A	c.(634-636)ACT>AAT	p.T212N	TBX4_uc010ddo.2_Missense_Mutation_p.T212N|TBX4_uc010woy.1_Missense_Mutation_p.T212N	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	212	T-box.				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						TCCAAAAACACTGCTTTCTGC	0.537			NA											28	128					1.75199e-13	2.68611e-13	0.007291	1	0
BRIP1	83990	broad.mit.edu	37	17	59938841	59938841	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:59938841T>C	uc002izk.1	-	2	201	c.60A>G	c.(58-60)AAA>AAG	p.K20K		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	20	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						ACGGGTAAGCTTTATAAGGAA	0.328			NA	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	FanconAnemia				18	41					0	0	0.007413	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Missense_Mutation	SNP	G	G	A	rs4968502	by1000genomes	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:60351457G>A	uc002izq.2	-	2	132	c.20C>T	c.(19-21)GCG>GTG	p.A7V	TBC1D3P2_uc010woz.1_RNA					SubName: Full=Putative uncharacterized protein TBC1D3E;												0						CCAACTACCCGCGACCTCTAC	0.537			NA											13	623					0	0	0.00245	0	0
CSH2	1443	broad.mit.edu	37	17	61949552	61949552	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:61949552C>A	uc002jch.2	-	5	703	c.588G>T	c.(586-588)ATG>ATT	p.M196I	CSH2_uc002jcg.2_Missense_Mutation_p.M101I|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Missense_Mutation_p.W195L|CSH2_uc002jck.2_Missense_Mutation_p.M196I	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	196					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0						CGACCTTGTCCATGTCCTTCC	0.562			NA											6	152					3.59834e-05	4.31285e-05	0.001168	1	0
ABCA6	23460	broad.mit.edu	37	17	67108373	67108373	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:67108373C>T	uc002jhw.1	-	16	2258	c.2083G>A	c.(2083-2085)GGT>AGT	p.G695S	ABCA6_uc002jhx.1_Missense_Mutation_p.G148S	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	695	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					ATAGAAGAACCTGCACACTTC	0.368			NA											49	183					0	0	0.00361	0	0
KIF19	124602	broad.mit.edu	37	17	72347009	72347009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:72347009C>A	uc002jkm.3	+	12	1690	c.1552C>A	c.(1552-1554)CTG>ATG	p.L518M	KIF19_uc002jkj.2_Missense_Mutation_p.L518M|KIF19_uc002jkk.2_Missense_Mutation_p.L476M|KIF19_uc002jkl.2_Missense_Mutation_p.L476M	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	518	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						CATTGCAGCCCTGGTGGACGA	0.587			NA											51	120					2.23044e-30	4.02801e-30	0.00361	1	0
GPR142	350383	broad.mit.edu	37	17	72368049	72368049	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:72368049G>T	uc010wqy.1	+	4	699	c.699G>T	c.(697-699)ACG>ACT	p.T233T	GPR142_uc010wqx.1_Silent_p.T145T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	233	Extracellular (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TGGTGCGCACGGCCAACATCC	0.642			NA											9	25					0.000274275	0.000316835	0.004482	1	0
FDXR	2232	broad.mit.edu	37	17	72860303	72860303	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:72860303T>A	uc002jly.2	-	9	1056	c.969A>T	c.(967-969)GCA>GCT	p.A323A	FDXR_uc010wri.1_Silent_p.A271A|FDXR_uc010wrj.1_Silent_p.A321A|FDXR_uc002jlw.2_Silent_p.A80A|FDXR_uc002jlx.2_Silent_p.A329A|FDXR_uc002jmc.2_Silent_p.A295A|FDXR_uc010wrk.1_Silent_p.A354A|FDXR_uc010wrl.1_Silent_p.A366A|FDXR_uc002jma.2_Silent_p.A324A|FDXR_uc010wrm.1_Silent_p.A283A|FDXR_uc002jlz.2_Silent_p.A315A|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	323					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACACCTGCTGCCCGCCGCC	0.667			NA											8	49					0	0	0.004482	0	0
GAA	2548	broad.mit.edu	37	17	78086452	78086452	+	Silent	SNP	C	C	T	rs61736896	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:78086452C>T	uc002jxo.2	+	14	2012	c.1830C>T	c.(1828-1830)GCC>GCT	p.A610A	GAA_uc002jxp.2_Silent_p.A610A|GAA_uc002jxq.2_Silent_p.A610A	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	610			Missing (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGATACGCCGGCCACTGGA	0.687			NA											3	32					0	0	0.000248	0	0
COLEC12	81035	broad.mit.edu	37	18	346601	346601	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:346601T>A	uc002kkm.2	-	5	1236	c.1021A>T	c.(1021-1023)ACG>TCG	p.T341S		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	341	Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ACAATATCCGTCTCAAAGAGC	0.473			NA											22	26					0	0	0.001882	0	0
ASXL3	80816	broad.mit.edu	37	18	31326431	31326431	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:31326431G>A	uc010dmg.1	+	12	6674	c.6619G>A	c.(6619-6621)GAT>AAT	p.D2207N	ASXL3_uc002kxq.2_Missense_Mutation_p.D1914N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CAGCAATGCAGATGAATTGGA	0.517			NA											4	84					0	0	0.000248	0	0
C18orf10	25941	broad.mit.edu	37	18	34385371	34385371	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:34385371G>A	uc002kzw.1	-	4	776	c.348C>T	c.(346-348)CCC>CCT	p.P116P	C18orf10_uc002kzv.1_Silent_p.P116P|C18orf10_uc010xci.1_Intron|C18orf10_uc002kzx.1_Intron|C18orf10_uc002kzy.3_Silent_p.P116P	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	116						cytoplasm|microtubule				skin(1)	1						CTGCCAGAGTGGGTGCATTAG	0.378			NA											41	66					0	0	0.002522	0	0
RIT2	6014	broad.mit.edu	37	18	40503615	40503615	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:40503615G>A	uc002lav.2	-	4	521	c.348C>T	c.(346-348)CTC>CTT	p.L116L	RIT2_uc010dnf.2_Silent_p.L116L	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	116					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1						CCTGAAAAATGAGCTCTTTAA	0.507			NA											97	138					0	0	0.00361	0	0
SETBP1	26040	broad.mit.edu	37	18	42531648	42531648	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:42531648A>G	uc010dni.2	+	4	2639	c.2343A>G	c.(2341-2343)ACA>ACG	p.T781T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	781						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACTTTCAACACAGTTAGGTG	0.522			NA							Schinzel-Giedion_syndrome				36	32					0	0	0.004289	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260100	44260100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:44260100C>A	uc002lcj.1	-	7	1604	c.1036G>T	c.(1036-1038)GGC>TGC	p.G346C	ST8SIA5_uc002lci.1_Missense_Mutation_p.G193C|ST8SIA5_uc010xcy.1_Missense_Mutation_p.G382C|ST8SIA5_uc010xcz.1_Missense_Mutation_p.G315C	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	346	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						GCGTGGAAGCCGGGACGCGGC	0.607			NA											30	47					2.47511e-08	3.34339e-08	0.008361	1	0
TCEB3B	51224	broad.mit.edu	37	18	44559770	44559770	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:44559770C>T	uc002lcr.1	-	1	2219	c.1866G>A	c.(1864-1866)ATG>ATA	p.M622I	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	622	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TATTCGTTGTCATTACTCTCA	0.502			NA											52	71					0	0	0.00361	0	0
ZNF516	9658	broad.mit.edu	37	18	74091609	74091609	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:74091609C>G	uc010dqx.1	-	3	2696	c.2461G>C	c.(2461-2463)GCC>CCC	p.A821P	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCACCGAGGGCAGGCGGGGGG	0.612			NA											26	49					0	0	0.003954	0	0
TMEM146	257062	broad.mit.edu	37	19	5745958	5745958	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:5745958G>T	uc002mda.2	+	9	753	c.692G>T	c.(691-693)CGG>CTG	p.R231L	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	231	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCCCTCAACCGGAGTTTCGGG	0.507			NA											86	143					1.68737e-39	3.11442e-39	0.00361	1	0
DUS3L	56931	broad.mit.edu	37	19	5789498	5789498	+	Missense_Mutation	SNP	C	C	A	rs34998818	by1000genomes	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:5789498C>A	uc002mdc.2	-	3	717	c.620G>T	c.(619-621)CGC>CTC	p.R207L	DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	207					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						CAGGCCGTTGCGGATGGACGG	0.721			NA											5	24					0.000602214	0.000689716	0.000602	1	0
MUC16	94025	broad.mit.edu	37	19	9014562	9014562	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:9014562T>A	uc002mkp.2	-	31	38617	c.38413A>T	c.(38413-38415)ACC>TCC	p.T12805S	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12807	SEA 5.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CTGTCCAGGGTGTAGGGACCC	0.557			NA											93	134					0	0	0.00361	0	0
MUC16	94025	broad.mit.edu	37	19	9084596	9084596	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:9084596G>T	uc002mkp.2	-	1	7423	c.7219C>A	c.(7219-7221)CTC>ATC	p.L2407I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2407	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAAGAGAAGAGAGATGGGGAG	0.473			NA											18	20					1.33834e-09	1.87984e-09	0.007413	1	0
ZNF317	57693	broad.mit.edu	37	19	9269521	9269521	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:9269521A>T	uc002mku.2	+	6	680	c.405A>T	c.(403-405)AAA>AAT	p.K135N	ZNF317_uc002mkv.2_5'UTR|ZNF317_uc002mkw.2_Missense_Mutation_p.K103N|ZNF317_uc002mkx.2_Missense_Mutation_p.K50N|ZNF317_uc002mky.2_Missense_Mutation_p.K18N	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCCATCTAAAACCAAGTGGT	0.413			NA											4	26					0	0	0.000248	0	0
QTRT1	81890	broad.mit.edu	37	19	10823446	10823446	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:10823446G>C	uc002mpr.2	+	8	899	c.874G>C	c.(874-876)GCC>CCC	p.A292P	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	292					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTTTGGCTCTGCCCTGGTGCC	0.622			NA											28	115					0	0	0.003755	0	0
OR7A5	26659	broad.mit.edu	37	19	14938756	14938756	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:14938756G>T	uc002mzw.2	-	1	521	c.298C>A	c.(298-300)CAG>AAG	p.Q100K	OR7A5_uc010xoa.1_Missense_Mutation_p.Q100K	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	100	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2						AAATACATCTGCATGAGGCAG	0.453			NA											22	102					3.8784e-16	6.23149e-16	0.001882	1	0
NWD1	284434	broad.mit.edu	37	19	16861059	16861059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:16861059C>A	uc002neu.3	+	6	2028	c.1606C>A	c.(1606-1608)CTG>ATG	p.L536M	NWD1_uc002net.3_Missense_Mutation_p.L401M|NWD1_uc002nev.3_Missense_Mutation_p.L330M			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	536	NACHT.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CCCAGGGCGGCTGAGGCTGGC	0.647			NA											11	45					6.40141e-05	7.57764e-05	0.000978	1	0
NWD1	284434	broad.mit.edu	37	19	16874727	16874727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:16874727G>T	uc002neu.3	+	9	2644	c.2222G>T	c.(2221-2223)CGC>CTC	p.R741L	NWD1_uc002net.3_Missense_Mutation_p.R606L|NWD1_uc002nev.3_Missense_Mutation_p.R535L			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	741							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CACTCGGGCCGCCTGGAGGAG	0.617			NA											21	32					1.2644e-06	1.59539e-06	0.001523	1	0
MYO9B	4650	broad.mit.edu	37	19	17311621	17311621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:17311621G>T	uc010eak.2	+	26	4698	c.4546G>T	c.(4546-4548)GAG>TAG	p.E1516*	MYO9B_uc002nfi.2_Nonsense_Mutation_p.E1516*|MYO9B_uc002nfj.1_Nonsense_Mutation_p.E1516*|MYO9B_uc002nfl.1_Nonsense_Mutation_p.E65*	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1516	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						GTACCTGGACGAGTTCCTGCT	0.557			NA											13	83					1.5842e-08	2.15735e-08	0.001855	1	0
ZNF99	7652	broad.mit.edu	37	19	22952090	22952090	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:22952090C>G	uc010xrh.1	-	2	103	c.103G>C	c.(103-105)GCT>CCT	p.A35P		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCTCCAGAGCGAATTCTATG	0.408			NA											28	56					0	0	0.00632	0	0
C19orf2	8725	broad.mit.edu	37	19	30477230	30477230	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:30477230C>T	uc002nsr.2	+	4	303	c.273C>T	c.(271-273)GTC>GTT	p.V91V	C19orf2_uc002nsq.2_Silent_p.V73V|C19orf2_uc002nss.2_Silent_p.V51V|C19orf2_uc002nst.2_Silent_p.V15V	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	91					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		GAAAACTTGTCCATACTAATG	0.388	Melanoma(75;661 1306 1472 28422 37948)		NA											17	86					0	0	0.007413	0	0
GPI	2821	broad.mit.edu	37	19	34859521	34859521	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:34859521C>T	uc002nvg.1	+	4	419	c.316C>T	c.(316-318)CGG>TGG	p.R106W	GPI_uc002nvf.2_Missense_Mutation_p.R145W|GPI_uc010xrv.1_Missense_Mutation_p.R145W|GPI_uc010xrw.1_Missense_Mutation_p.R106W|GPI_uc010edl.1_Missense_Mutation_p.R106W|GPI_uc002nvh.1_3'UTR	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	106					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					TCTGCGGAACCGGTCAAACAC	0.582			NA											5	55					0	0	0.001168	0	0
ZFP82	284406	broad.mit.edu	37	19	36884554	36884554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:36884554C>A	uc002ody.1	-	5	923	c.688G>T	c.(688-690)GAA>TAA	p.E230*		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	230	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TCCCCACATTCCTTACATTCA	0.418			NA											15	84					1.5739e-10	2.2629e-10	0.004007	1	0
LTBP4	8425	broad.mit.edu	37	19	41105444	41105444	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:41105444T>A	uc002ooh.1	+	3	323	c.323T>A	c.(322-324)CTC>CAC	p.L108H	LTBP4_uc002oog.1_Missense_Mutation_p.L71H|LTBP4_uc002ooi.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	108					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGTCCCTCAACTGGCAG	0.582			NA											18	95					0	0	0.001523	0	0
TMEM145	284339	broad.mit.edu	37	19	42822023	42822023	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:42822023T>A	uc002otk.1	+	12	1115	c.1063T>A	c.(1063-1065)TAT>AAT	p.Y355N		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	355	Helical; (Potential).					integral to membrane					0		Prostate(69;0.00682)				CTTTGCTGCCTATACCCTCTG	0.562			NA											30	65					0	0	0.003271	0	0
BCAM	4059	broad.mit.edu	37	19	45322968	45322968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:45322968G>T	uc002ozu.2	+	13	1792	c.1748G>T	c.(1747-1749)CGG>CTG	p.R583L	BCAM_uc002ozt.1_Missense_Mutation_p.R583L	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	583	Cytoplasmic (Potential).				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CGCCAGCGGCGGGAGAAGGGG	0.502			NA											8	10					2.17888e-05	2.63036e-05	0.006214	1	0
RELB	5971	broad.mit.edu	37	19	45540760	45540760	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:45540760C>G	uc002paj.1	+	13	1578	c.1452C>G	c.(1450-1452)CTC>CTG	p.L484L	SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	484						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGCCTGACCTCCTGGACGATG	0.682			NA											8	90					0	0	0.00308	0	0
DMWD	1762	broad.mit.edu	37	19	46289893	46289893	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:46289893G>C	uc002pdj.1	-	3	907	c.861C>G	c.(859-861)CTC>CTG	p.L287L	DMWD_uc002pdk.1_Silent_p.L287L|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	287	WD 2.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGAACTCGTTGAGGGGCCCCT	0.667			NA											4	35					0	0	0.000248	0	0
ZNF473	25888	broad.mit.edu	37	19	50545052	50545052	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:50545052G>A	uc002prn.2	+	4	439	c.202G>A	c.(202-204)GGA>AGA	p.G68R	ZNF473_uc002prm.2_Missense_Mutation_p.G68R|ZNF473_uc010ybo.1_Missense_Mutation_p.G56R	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	68	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTGGCAGGAGGAAGCCCAGA	0.592			NA											17	108					0	0	0.006122	0	0
ZNF613	79898	broad.mit.edu	37	19	52447603	52447603	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:52447603G>T	uc002pxz.1	+	6	890	c.467G>T	c.(466-468)GGG>GTG	p.G156V	ZNF613_uc002pya.1_Missense_Mutation_p.G120V	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AATTCTGTGGGGGTTAATGGA	0.348			NA											18	85					1.99824e-07	2.59461e-07	0.00499	1	0
LILRB3	11025	broad.mit.edu	37	19	54721011	54721011	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:54721011C>T	uc002qef.1	-	13	1958	c.1847G>A	c.(1846-1848)GGG>GAG	p.G616E	LILRB3_uc002qee.1_Missense_Mutation_p.G617E|LILRB3_uc002qeh.1_Missense_Mutation_p.G616E|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.G616E|LILRA6_uc002qek.1_Missense_Mutation_p.G617E|LILRB3_uc010erh.1_Missense_Mutation_p.G633E|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.G616E|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G617E|LILRB3_uc002qep.1_Missense_Mutation_p.G617E|LILRB3_uc002qeq.1_Missense_Mutation_p.G616E|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.G617E	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	616	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGTTCCCCTTCCTGGGA	0.617			NA											11	63					0	0	0.008291	0	0
LILRA4	23547	broad.mit.edu	37	19	54849379	54849379	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:54849379C>G	uc002qfj.2	-	4	540	c.483G>C	c.(481-483)AGG>AGC	p.R161S	LILRA4_uc002qfi.2_Missense_Mutation_p.R95S	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	161	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCCAGGAGAGCCTGTGGTCTC	0.587			NA											23	25					0	0	0.00278	0	0
LILRA1	11024	broad.mit.edu	37	19	55107673	55107673	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:55107673C>T	uc002qgh.1	+	7	1160	c.978C>T	c.(976-978)CCC>CCT	p.P326P	LILRA2_uc010yfg.1_Silent_p.P324P|LILRA1_uc010yfh.1_Silent_p.P326P	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	326	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		GTGGCAGACCCTTCATCTCGG	0.612			NA											9	41					0	0	0.004482	0	0
ZNF264	9422	broad.mit.edu	37	19	57716786	57716786	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:57716786A>T	uc002qob.2	+	3	595	c.182A>T	c.(181-183)GAG>GTG	p.E61V		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCCAAAGCTGAGCTGATCTGC	0.512			NA											7	21					0	0	0.001984	0	0
AURKC	6795	broad.mit.edu	37	19	57744036	57744036	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr19:57744036G>C	uc002qoe.2	+	4	612	c.423G>C	c.(421-423)CAG>CAC	p.Q141H	AURKC_uc002qoc.2_Missense_Mutation_p.Q122H|AURKC_uc002qod.2_Missense_Mutation_p.Q107H|AURKC_uc010etv.2_Missense_Mutation_p.Q138H	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	141	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TAGATGAACAGCGCACAGCCA	0.552			NA											6	40					0	0	0.001168	0	0
CRIM1	51232	broad.mit.edu	37	2	36744655	36744655	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:36744655A>T	uc002rpd.2	+	12	2215	c.2176A>T	c.(2176-2178)ACC>TCC	p.T726S		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	726	VWFC 4.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCCCTCACGCACCCAGGATTC	0.597			NA											22	69					0	0	0.00333	0	0
FOXN2	3344	broad.mit.edu	37	2	48573727	48573727	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:48573727T>C	uc002rwh.1	+	3	689	c.374T>C	c.(373-375)ATT>ACT	p.I125T		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	125	Fork-head.				embryo 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|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TATATGGCCATTGAGCACTCT	0.418			NA											8	182					0	0	0.004482	0	0
FSHR	2492	broad.mit.edu	37	2	49190511	49190511	+	Silent	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:49190511G>C	uc002rww.2	-	10	1523	c.1449C>G	c.(1447-1449)CTC>CTG	p.L483L	FSHR_uc002rwx.2_Silent_p.L421L|FSHR_uc010fbn.2_Silent_p.L457L	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	483	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAGCATGGCGGAGCTGCACCT	0.522			NA							Gonadal_Dysgenesis_46_XX				10	27					0	0	0.006214	0	0
PAPOLG	64895	broad.mit.edu	37	2	60987422	60987422	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:60987422G>C	uc002sai.2	+	2	402	c.171G>C	c.(169-171)TTG>TTC	p.L57F	PAPOLG_uc002saj.2_5'UTR|PAPOLG_uc002sak.2_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	57					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGGAAGAATTGAACCACAGGT	0.244	GBM(183;1497 2932 21839 46797)		NA											4	40					0	0	0.000602	0	0
EXOC6B	23233	broad.mit.edu	37	2	72742214	72742214	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:72742214C>T	uc010fep.2	-	9	1095	c.957G>A	c.(955-957)AGG>AGA	p.R319R	EXOC6B_uc002sij.2_Silent_p.R319R	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	319					protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						CCTGTTTTCGCCTCTGTTTTC	0.378			NA											4	18					0	0	0.000248	0	0
C2orf78	388960	broad.mit.edu	37	2	74040627	74040627	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:74040627C>T	uc002sjr.1	+	2	242	c.121C>T	c.(121-123)CCT>TCT	p.P41S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	41	Ser-rich.									ovary(2)	2						TACGTCTTTACCTGGAACTGC	0.423			NA											6	20					0	0	0.001168	0	0
C2orf78	388960	broad.mit.edu	37	2	74041004	74041004	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:74041004T>A	uc002sjr.1	+	2	619	c.498T>A	c.(496-498)TAT>TAA	p.Y166*		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	166										ovary(2)	2						CCCAGTATTATAAAACTTCAG	0.443			NA											13	22					0	0	0.001855	0	0
DQX1	165545	broad.mit.edu	37	2	74751353	74751353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:74751353C>A	uc010yrw.1	-	4	678	c.513G>T	c.(511-513)GAG>GAT	p.E171D	DQX1_uc002smc.2_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	171	Helicase ATP-binding.|DEAQ box.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						GCTCCTGAGCCTCATCTAGTA	0.597			NA											19	129					1.15919e-05	1.40954e-05	0.008871	1	0
C2orf65	130951	broad.mit.edu	37	2	74802690	74802690	+	Missense_Mutation	SNP	C	C	T	rs140179344		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:74802690C>T	uc002smy.2	-	7	1066	c.949G>A	c.(949-951)GGG>AGG	p.G317R	C2orf65_uc010ysa.1_Missense_Mutation_p.G317R|C2orf65_uc002smz.2_Missense_Mutation_p.G317R|C2orf65_uc010ffp.2_Missense_Mutation_p.G35R|C2orf65_uc002smx.2_Missense_Mutation_p.G73R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	317					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						TCGCAGAGCCCGCTAGATTTT	0.448			NA											14	103					0	0	0.003163	0	0
IMMT	10989	broad.mit.edu	37	2	86371740	86371740	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:86371740C>T	uc002sqz.3	-	15	2316	c.1928G>A	c.(1927-1929)CGA>CAA	p.R643Q	IMMT_uc002sqy.3_Missense_Mutation_p.R384Q|IMMT_uc002srb.3_Missense_Mutation_p.R632Q|IMMT_uc002sra.3_Missense_Mutation_p.R642Q|IMMT_uc010ytd.1_Missense_Mutation_p.R631Q|IMMT_uc010yte.1_Missense_Mutation_p.R596Q	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	643	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						TGCTACCCTTCGGGCCAGTTT	0.512			NA											9	165					0	0	0.006214	0	0
ASTL	431705	broad.mit.edu	37	2	96789754	96789754	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:96789754A>G	uc010yui.1	-	9	1131	c.1131T>C	c.(1129-1131)GGT>GGC	p.G377G		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	377					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CACCGGGGGCACCTGCTCCAG	0.627			NA											17	86					0	0	0.00499	0	0
AFF3	3899	broad.mit.edu	37	2	100210239	100210239	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:100210239C>T	uc002tag.2	-	14	2120	c.1884G>A	c.(1882-1884)AGG>AGA	p.R628R	AFF3_uc002taf.2_Silent_p.R653R|AFF3_uc010fiq.1_Silent_p.R628R|AFF3_uc010yvr.1_Silent_p.R781R|AFF3_uc002tah.1_Silent_p.R653R	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	628					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						TGCCACAGGGCCTGGTTTTGG	0.721			NA											22	48					0	0	0.00333	0	0
RGPD4	285190	broad.mit.edu	37	2	108443477	108443477	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:108443477G>A	uc010ywk.1	+	1	90	c.8G>A	c.(7-9)TGC>TAC	p.C3Y	LOC729121_uc010ywj.1_5'Flank|LOC729121_uc002tdt.2_5'Flank	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	3					intracellular transport		binding			skin(2)	2						GCGATGAGTTGCAGCAAGGCC	0.652			NA											6	12					0	0	0.001984	0	0
EDAR	10913	broad.mit.edu	37	2	109524389	109524389	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:109524389G>A	uc002teq.3	-	10	1321	c.890C>T	c.(889-891)TCC>TTC	p.S297F	EDAR_uc010fjn.2_Missense_Mutation_p.S329F|EDAR_uc010yws.1_Missense_Mutation_p.S329F	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	297	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CAGCTCCGGGGAGCCCTGCTT	0.617			NA											7	66					0	0	0.001984	0	0
LOC401010	401010	broad.mit.edu	37	2	132201470	132201470	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:132201470C>A	uc002tst.2	-	1	998	c.532G>T	c.(532-534)GGC>TGC	p.G178C		NR_002826				SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);												0						AGGACGGGGCCAAGGAAAGTG	0.572			NA											13	33					1.5842e-08	2.15735e-08	0.001855	1	0
NCKAP5	344148	broad.mit.edu	37	2	133543152	133543152	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:133543152C>A	uc002ttp.2	-	14	1606	c.1232G>T	c.(1231-1233)CGA>CTA	p.R411L	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	411							protein binding				0						TAACACTTTTCGCTTCTGTAG	0.413			NA											9	103					1.33987e-11	1.96867e-11	0.008291	1	0
LRP1B	53353	broad.mit.edu	37	2	141114000	141114000	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:141114000T>A	uc002tvj.1	-	75	12413	c.11441A>T	c.(11440-11442)GAT>GTT	p.D3814V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3814	Extracellular (Potential).|EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATGCATCATCTCCACATGG	0.338	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			24	55					0	0	0.00278	0	0
LRP1B	53353	broad.mit.edu	37	2	141641553	141641553	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:141641553C>A	uc002tvj.1	-	25	4974	c.4002G>T	c.(4000-4002)CTG>CTT	p.L1334L	LRP1B_uc010fnl.1_Silent_p.L516L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1334	Extracellular (Potential).|LDL-receptor class B 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGAGTAGCCAGGCCATGCT	0.473	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			33	105					2.20474e-14	3.45942e-14	0.003755	1	0
LRP1B	53353	broad.mit.edu	37	2	141660631	141660631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:141660631G>T	uc002tvj.1	-	23	4596	c.3624C>A	c.(3622-3624)GAC>GAA	p.D1208E	LRP1B_uc010fnl.1_Missense_Mutation_p.D390E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1208	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTTTTATTGTCTTTGTTGA	0.428	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			14	49					1.52009e-12	2.28355e-12	0.003163	1	0
ARHGAP15	55843	broad.mit.edu	37	2	143913188	143913188	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:143913188C>A	uc002tvm.3	+	2	280	c.129C>A	c.(127-129)TCC>TCA	p.S43S	ARHGAP15_uc010zbl.1_Silent_p.S43S	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	43					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGTAAATCCATGATCCTCA	0.443			NA											18	32					1.64113e-05	1.98477e-05	0.001523	1	0
SCN3A	6328	broad.mit.edu	37	2	166019212	166019212	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:166019212C>T	uc002ucx.2	-	8	1313	c.821G>A	c.(820-822)AGG>AAG	p.R274K	SCN3A_uc002ucy.2_Missense_Mutation_p.R274K|SCN3A_uc002ucz.2_Missense_Mutation_p.R274K|SCN3A_uc002uda.1_Missense_Mutation_p.R143K|SCN3A_uc002udb.1_Missense_Mutation_p.R143K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	274						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	ACATTTATTCCTCAGATTGCC	0.443			NA											27	72					0	0	0.005443	0	0
TTC21B	79809	broad.mit.edu	37	2	166797562	166797562	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:166797562C>A	uc002udk.2	-	6	818	c.685G>T	c.(685-687)GAC>TAC	p.D229Y	TTC21B_uc002udl.2_Missense_Mutation_p.D229Y|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	229						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						ACTGTCTGGTCCCAATCCTGC	0.388			NA											16	50					9.16793e-09	1.25614e-08	0.00499	1	0
XIRP2	129446	broad.mit.edu	37	2	168103850	168103850	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:168103850C>T	uc002udx.2	+	8	5966	c.5948C>T	c.(5947-5949)CCA>CTA	p.P1983L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P1808L|XIRP2_uc010fpq.2_Missense_Mutation_p.P1761L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1808					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAGCCAGGTCCATTTGAGCCA	0.473			NA											26	37					0	0	0.003954	0	0
LRP2	4036	broad.mit.edu	37	2	169996113	169996113	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:169996113T>C	uc002ues.2	-	73	13420	c.13207A>G	c.(13207-13209)AGC>GGC	p.S4403G		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4403	EGF-like 17.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTGTAGCCGCTAGGACACCTG	0.398			NA											25	102					0	0	0.00333	0	0
TTN	7273	broad.mit.edu	37	2	179396333	179396333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:179396333G>T	uc010zfg.1	-	307	97529	c.97305C>A	c.(97303-97305)GAC>GAA	p.D32435E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26130E|TTN_uc010zfi.1_Missense_Mutation_p.D26063E|TTN_uc010zfj.1_Missense_Mutation_p.D25938E|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33362							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)			CAGTATGACAGTCCAGAATTT	0.488			NA											27	45					1.39806e-14	2.20399e-14	0.008361	1	0
TTN	7273	broad.mit.edu	37	2	179435842	179435842	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:179435842G>A	uc010zfg.1	-	275	67537	c.67313C>T	c.(67312-67314)CCA>CTA	p.P22438L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P16133L|TTN_uc010zfi.1_Missense_Mutation_p.P16066L|TTN_uc010zfj.1_Missense_Mutation_p.P15941L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23365							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)			TGGATCACATGGGTCACGAGC	0.468			NA											8	165					0	0	0.00308	0	0
TTN	7273	broad.mit.edu	37	2	179576905	179576905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:179576905C>A	uc010zfg.1	-	93	24144	c.23920G>T	c.(23920-23922)GTT>TTT	p.V7974F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4635F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8901							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)			GAATCTCCAACAGACACCTTA	0.458			NA											24	78					5.35047e-06	6.58973e-06	0.00333	1	0
ITGA4	3676	broad.mit.edu	37	2	182358123	182358123	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:182358123G>A	uc002unu.2	+	11	1988	c.1225G>A	c.(1225-1227)GGG>AGG	p.G409R		NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	409	FG-GAP 6.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCGTGCAGATGGGATCTCGTC	0.373			NA											18	34					0	0	0.007413	0	0
CERKL	375298	broad.mit.edu	37	2	182413579	182413579	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:182413579C>G	uc002unx.2	-	8	1080	c.979G>C	c.(979-981)GTA>CTA	p.V327L	CERKL_uc002uny.2_Missense_Mutation_p.V301L|CERKL_uc010zfm.1_Missense_Mutation_p.V283L|CERKL_uc002unz.2_Missense_Mutation_p.V49L|CERKL_uc002uoa.2_Missense_Mutation_p.V232L|CERKL_uc002uob.2_Missense_Mutation_p.V49L|CERKL_uc002uoc.2_Missense_Mutation_p.V188L|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.V96L|CERKL_uc002uoe.2_Missense_Mutation_p.V301L|CERKL_uc002unw.2_5'Flank	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	327	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ACCAGCTGTACATGCCCTTGA	0.433			NA											13	41					0	0	0.00245	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801049	185801049	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:185801049C>A	uc002uph.2	+	4	1520	c.926C>A	c.(925-927)CCT>CAT	p.P309H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	309						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TTATTATTACCTTCATTTTGC	0.343			NA											9	27					0.000274275	0.000316835	0.004482	1	0
INPP1	3628	broad.mit.edu	37	2	191233942	191233942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:191233942G>T	uc002ury.3	+	6	1280	c.580G>T	c.(580-582)GGG>TGG	p.G194W	INPP1_uc010fsb.2_Missense_Mutation_p.G194W|INPP1_uc002urx.3_Missense_Mutation_p.G194W	NM_001128928	NP_001122400	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	194					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	CATACAGACAGGGGTTCCCCT	0.408	Melanoma(130;184 1743 2185 19805 38428)		NA											38	84					3.43241e-23	5.98885e-23	0.002222	1	0
DNAH7	56171	broad.mit.edu	37	2	196729424	196729424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:196729424C>A	uc002utj.3	-	41	7056	c.6955G>T	c.(6955-6957)GCC>TCC	p.A2319S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2319	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGCTCTATGGCAAATCGAAAC	0.448			NA											26	88					1.64293e-13	2.53633e-13	0.00333	1	0
DNAH7	56171	broad.mit.edu	37	2	196801370	196801370	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:196801370G>A	uc002utj.3	-	20	3326	c.3225C>T	c.(3223-3225)TCC>TCT	p.S1075S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1075	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GTTCATCATTGGACAAAAAAA	0.313			NA											18	52					0	0	0.008871	0	0
ALS2	57679	broad.mit.edu	37	2	202611466	202611466	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:202611466G>A	uc002uyo.2	-	9	2177	c.1821C>T	c.(1819-1821)AGC>AGT	p.S607S	ALS2_uc002uyp.3_Silent_p.S607S|ALS2_uc002uyq.2_Silent_p.S607S|ALS2_uc010ftl.2_5'Flank	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	607	RCC1 5.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						CATTTTCACTGCTTATCTGCA	0.443			NA											22	119					0	0	0.002299	0	0
STK11IP	114790	broad.mit.edu	37	2	220477903	220477903	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:220477903G>T	uc002vml.2	+	20	2569	c.2526G>T	c.(2524-2526)GTG>GTT	p.V842V		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	842					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGTTGTGTCTGACCGCA	0.363			NA											7	38					3.09899e-07	3.97762e-07	0.004482	1	0
AGAP1	116987	broad.mit.edu	37	2	236403353	236403353	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:236403353C>A	uc002vvs.2	+	1	618	c.23C>A	c.(22-24)GCC>GAC	p.A8D	AGAP1_uc002vvt.2_Missense_Mutation_p.A8D	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	8					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CAGCAGCTGGCCAACTCGGCT	0.413			NA											17	41					5.01169e-05	5.96418e-05	0.00499	1	0
RBM44	375316	broad.mit.edu	37	2	238725983	238725983	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:238725983G>A	uc002vxi.3	+	3	556	c.424G>A	c.(424-426)GAG>AAG	p.E142K		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	141							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GCAGAAAAAAGAGGAGGTTTT	0.308			NA											8	9					0	0	0.00308	0	0
RBM44	375316	broad.mit.edu	37	2	238726838	238726838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:238726838G>T	uc002vxi.3	+	3	1411	c.1279G>T	c.(1279-1281)GAT>TAT	p.D427Y		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	426							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GGCAATAGAAGATAATACGTC	0.383			NA											23	31					6.44725e-10	9.17125e-10	0.002299	1	0
RBM44	375316	broad.mit.edu	37	2	238742712	238742712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:238742712C>A	uc002vxi.3	+	14	3094	c.2962C>A	c.(2962-2964)CCA>ACA	p.P988T		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	987							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATTCATACCTCCAAATACATT	0.338			NA											8	11					3.09899e-07	3.97762e-07	0.004482	1	0
ESPNL	339768	broad.mit.edu	37	2	239016463	239016463	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:239016463G>T	uc002vxq.3	+	4	814	c.704G>T	c.(703-705)CGG>CTG	p.R235L	ESPNL_uc010fyw.2_5'UTR	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	235										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTCACGGCACGGGACAATGAG	0.652			NA											4	7					1.23904e-05	1.50391e-05	0.000602	1	0
ESPNL	339768	broad.mit.edu	37	2	239016588	239016588	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:239016588G>C	uc002vxq.3	+	4	939	c.829G>C	c.(829-831)GAC>CAC	p.D277H	ESPNL_uc010fyw.2_Missense_Mutation_p.D17H	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	277	ANK 9.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCCCTCCACGACGCAGCAGA	0.498			NA											11	27					0	0	0.001368	0	0
PER2	8864	broad.mit.edu	37	2	239161729	239161729	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:239161729G>T	uc002vyc.2	-	19	3172	c.2935C>A	c.(2935-2937)CCG>ACG	p.P979T	PER2_uc010znv.1_Missense_Mutation_p.P979T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	979	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGAAAGAGCGGTGGGGAGGCC	0.682			NA											23	43					1.96895e-08	2.66504e-08	0.00278	1	0
SIRPB1	10326	broad.mit.edu	37	20	1559157	1559157	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:1559157G>T	uc010gai.2	-	2	359	c.260C>A	c.(259-261)CCA>CAA	p.P87Q	SIRPB1_uc002wfk.3_Missense_Mutation_p.P87Q	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	87	Extracellular (Potential).|Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						TGTTACCCGTGGGAAGTGGCC	0.507			NA											74	74					7.07328e-35	1.29131e-34	0.00361	1	0
TGM6	343641	broad.mit.edu	37	20	2381054	2381054	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:2381054G>T	uc002wfy.1	+	7	1014	c.953G>T	c.(952-954)GGG>GTG	p.G318V	TGM6_uc010gal.1_Missense_Mutation_p.G318V	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	318					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	GACTCCTTCGGGCGGACCCTG	0.617			NA											27	33					5.77227e-19	9.66855e-19	0.008361	1	0
NOP56	10528	broad.mit.edu	37	20	2637485	2637485	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:2637485G>C	uc002wgh.2	+	10	1278	c.1225G>C	c.(1225-1227)GAG>CAG	p.E409Q	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.E243Q|NOP56_uc002wgm.1_Missense_Mutation_p.E156Q|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	409	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						GTCCTTCTATGAGACTGGAGA	0.512			NA											15	64					0	0	0.00245	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:29625934C>T	uc010ztl.1	+	2	120	c.88C>T	c.(88-90)CAT>TAT	p.H30Y	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						ACTTGTTGGGCATTCAGATGC	0.338			NA											5	56					0	0	0.001168	0	0
SEMG2	6407	broad.mit.edu	37	20	43851084	43851084	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr20:43851084A>G	uc010ggz.2	+	2	868	c.811A>G	c.(811-813)AAA>GAA	p.K271E	SEMG2_uc002xnk.2_Missense_Mutation_p.K271E|SEMG2_uc002xnl.2_Missense_Mutation_p.K271E	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	271	Repeat-rich region.|4 X 60 AA tandem repeats, type I.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACACCAGACAAAAAATCTCAG	0.418			NA											29	25					0	0	0.00632	0	0
GRIK1	2897	broad.mit.edu	37	21	30934017	30934017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:30934017G>T	uc002yno.1	-	15	2748	c.2284C>A	c.(2284-2286)CAG>AAG	p.Q762K	GRIK1_uc002ynn.2_Missense_Mutation_p.Q747K|GRIK1_uc011acs.1_Missense_Mutation_p.Q762K|GRIK1_uc011act.1_Missense_Mutation_p.Q623K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	762	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAGTTTCTCTGCGTCACATAC	0.532			NA											15	76					4.7546e-09	6.6091e-09	0.004007	1	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709587	31709587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:31709587C>A	uc002ynx.1	-	1	426	c.400G>T	c.(400-402)GCA>TCA	p.A134S		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	134						intermediate filament				ovary(2)	2						TTGAGGCTTGCAGGTTGGCAG	0.483			NA											41	175					3.4345e-17	5.66777e-17	0.002852	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812784	31812784	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:31812784C>A	uc002yod.2	+	1	139	c.139C>A	c.(139-141)CTC>ATC	p.L47I		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	47						intermediate filament					0						GGGCTCCTCTCTCTACAATGG	0.483			NA											41	83					2.95478e-19	4.96166e-19	0.00874	1	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852534	31852534	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:31852534G>T	uc011acx.1	-	1	103	c.103C>A	c.(103-105)CGG>AGG	p.R35R		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	35	26 X 2 AA repeats of G-[YCGS].					intermediate filament					0						CCAGAACCCCGTCTGCAGAAG	0.587			NA											78	240					4.00405e-42	7.41081e-42	0.00361	1	0
TIAM1	7074	broad.mit.edu	37	21	32638519	32638519	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:32638519C>G	uc002yow.1	-	5	1242	c.770G>C	c.(769-771)TGT>TCT	p.C257S	TIAM1_uc011adk.1_Missense_Mutation_p.C257S|TIAM1_uc011adl.1_Missense_Mutation_p.C257S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	257					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CAAATTCCGACAGTAGCCTGC	0.493			NA											39	77					0	0	0.00874	0	0
IL10RB	3588	broad.mit.edu	37	21	34660564	34660564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:34660564G>C	uc002yrk.1	+	6	901	c.802G>C	c.(802-804)GAG>CAG	p.E268Q	IL10RB_uc002yrl.1_Missense_Mutation_p.E270Q	NM_000628	NP_000619	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta precursor	268	Cytoplasmic (Potential).				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0						GCACCTGAAAGAGGTAGGTAG	0.493	Melanoma(67;315 1275 21667 21943 44564)		NA											15	57					0	0	0.004007	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032852	41032852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:41032852G>T	uc002yyb.1	+	5	958	c.366G>T	c.(364-366)AAG>AAT	p.K122N	B3GALT5_uc002yye.2_Missense_Mutation_p.K122N|B3GALT5_uc002yyi.1_Missense_Mutation_p.K122N|B3GALT5_uc002yyj.1_Missense_Mutation_p.K122N|B3GALT5_uc002yyk.1_Missense_Mutation_p.K122N|B3GALT5_uc002yyl.1_Missense_Mutation_p.K122N|B3GALT5_uc002yym.1_Missense_Mutation_p.K122N	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	122	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				TTATCCAGAAGGATTTCCTAG	0.522			NA											18	61					6.49762e-13	9.8271e-13	0.006122	1	0
COL18A1	80781	broad.mit.edu	37	21	46896376	46896376	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:46896376A>T	uc011afs.1	+	5	2176	c.2155A>T	c.(2155-2157)ACG>TCG	p.T719S	COL18A1_uc002zhg.2_Missense_Mutation_p.T304S|COL18A1_uc002zhi.2_Missense_Mutation_p.T484S	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	719	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGCAGACCACGGTGGCTTC	0.408			NA											8	10					0	0	0.00308	0	0
COL18A1	80781	broad.mit.edu	37	21	46901927	46901927	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:46901927G>A	uc011afs.1	+	13	2928	c.2907G>A	c.(2905-2907)CAG>CAA	p.Q969Q	COL18A1_uc002zhg.2_Silent_p.Q554Q|COL18A1_uc002zhi.2_Silent_p.Q734Q	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	969	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGACTGGGCAGAAAGGCAGCC	0.647			NA											7	33					0	0	0.004482	0	0
COL18A1	80781	broad.mit.edu	37	21	46930146	46930146	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:46930146C>A	uc011afs.1	+	40	4921	c.4900C>A	c.(4900-4902)CGC>AGC	p.R1634S	COL18A1_uc002zhg.2_Missense_Mutation_p.R1219S|COL18A1_uc002zhi.2_Missense_Mutation_p.R1399S|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Missense_Mutation_p.R200S|COL18A1_uc002zhk.2_Missense_Mutation_p.R44S	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1637	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCGTGCCGACCGCGCAGCCGT	0.711			NA											5	6					5.9392e-07	7.56514e-07	0.001168	1	0
COL6A1	1291	broad.mit.edu	37	21	47422543	47422543	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:47422543G>T	uc002zhu.1	+	33	2455	c.2353G>T	c.(2353-2355)GGC>TGC	p.G785C	COL6A1_uc010gqd.1_Missense_Mutation_p.G116C|COL6A1_uc002zhv.1_Missense_Mutation_p.G116C|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	785	VWFA 2.|C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGCCGGCCCGGCCTCTCGCT	0.597			NA											28	76					6.53348e-20	1.11102e-19	0.003755	1	0
COL6A2	1292	broad.mit.edu	37	21	47545884	47545884	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr21:47545884C>A	uc002zia.1	+	26	2237	c.2155C>A	c.(2155-2157)CGG>AGG	p.R719R	COL6A2_uc002zhy.1_Silent_p.R719R|COL6A2_uc002zhz.1_Silent_p.R719R|COL6A2_uc002zib.1_Silent_p.R125R|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	719	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAAGGAGAGCCGGCGCCAGAA	0.637			NA											14	52					4.36969e-10	6.24242e-10	0.001855	1	0
CECR1	51816	broad.mit.edu	37	22	17684454	17684454	+	Missense_Mutation	SNP	G	G	C	rs148936893		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:17684454G>C	uc002zmk.1	-	3	964	c.752C>G	c.(751-753)CCG>CGG	p.P251R	CECR1_uc010gqu.1_Missense_Mutation_p.P251R|CECR1_uc011agi.1_Missense_Mutation_p.P209R|CECR1_uc011agj.1_Missense_Mutation_p.P209R	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	251					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGGGCTCACCGGCAGCAGCCT	0.532			NA											8	28					0	0	0.00308	0	0
MICAL3	57553	broad.mit.edu	37	22	18301796	18301796	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:18301796C>A	uc002zng.3	-	26	3984	c.3631G>T	c.(3631-3633)GAT>TAT	p.D1211Y	MICAL3_uc011agl.1_Missense_Mutation_p.D1127Y	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1211	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGGGGGCATCAGCTTTGGGC	0.622			NA											7	24					1.06961e-07	1.40518e-07	0.00308	1	0
MICAL3	57553	broad.mit.edu	37	22	18384718	18384718	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:18384718G>A	uc002zng.3	-	5	970	c.617C>T	c.(616-618)CCC>CTC	p.P206L	MICAL3_uc011agl.1_Missense_Mutation_p.P206L|MICAL3_uc002znh.2_Missense_Mutation_p.P206L|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Missense_Mutation_p.P206L|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.P206L|MICAL3_uc011agm.1_Missense_Mutation_p.P206L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	206						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		ATGAGTCTTGGGGTGCACCAG	0.532			NA											5	30					0	0	0.001168	0	0
DGCR2	9993	broad.mit.edu	37	22	19044598	19044598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:19044598G>A	uc002zoq.1	-	6	951	c.703C>T	c.(703-705)CAG>TAG	p.Q235*	DGCR2_uc002zor.1_Nonsense_Mutation_p.Q11*|DGCR2_uc011agr.1_Nonsense_Mutation_p.Q191*	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	235	Extracellular (Potential).|C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					CACTGAAGCTGGGCACAGAAC	0.567			NA											5	11					0	0	0.000602	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868938	22868938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:22868938G>T	uc002zwe.2	-	2	1270	c.1017C>A	c.(1015-1017)TGC>TGA	p.C339*	LOC96610_uc011aim.1_Intron	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	339	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGCCGGTGGCAGTGCTGGC	0.458			NA											32	92					3.93418e-24	6.93658e-24	0.004289	1	0
TFIP11	24144	broad.mit.edu	37	22	26895444	26895444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:26895444C>T	uc003acr.2	-	8	1329	c.955G>A	c.(955-957)GAG>AAG	p.E319K	TFIP11_uc003acs.2_Missense_Mutation_p.E319K|TFIP11_uc003act.2_Missense_Mutation_p.E319K	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	319					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCTCCAGCTCGGGCAGCGCG	0.612			NA											16	90					0	0	0.004007	0	0
SLC5A1	6523	broad.mit.edu	37	22	32482216	32482216	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:32482216C>T	uc003amc.2	+	10	1263	c.1031C>T	c.(1030-1032)GCC>GTC	p.A344V	SLC5A1_uc011alz.1_Missense_Mutation_p.A217V	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	344	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						GAAAAAATTGCCTGTGTCGTC	0.408			NA											28	105					0	0	0.004289	0	0
MYH9	4627	broad.mit.edu	37	22	36689452	36689452	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:36689452A>T	uc003apg.2	-	30	4249	c.4018T>A	c.(4018-4020)TCC>ACC	p.S1340T		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1340	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TCCCGGAAGGAATTCTTCTCG	0.637			NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				28	65					0	0	0.008361	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325452	37325452	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:37325452C>G	uc003aqa.3	+	5	617	c.400C>G	c.(400-402)CCT>GCT	p.P134A	CSF2RB_uc003aqc.3_Missense_Mutation_p.P134A	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	134	Fibronectin type-III 1.|Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	AGTCCAGCCTCCTGAGCCCAG	0.557			NA											23	131					0	0	0.003954	0	0
SH3BP1	23616	broad.mit.edu	37	22	38040682	38040682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:38040682G>T	uc003ati.2	+	8	768	c.657G>T	c.(655-657)AAG>AAT	p.K219N	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.K219N|SH3BP1_uc003ath.1_Missense_Mutation_p.K219N|SH3BP1_uc003atj.1_Missense_Mutation_p.K155N|SH3BP1_uc003atk.1_Missense_Mutation_p.K133N|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	219	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TTGTTACCAAGGAGGACTCCT	0.552			NA											38	176					1.30091e-30	2.3557e-30	0.006999	1	0
CACNA1I	8911	broad.mit.edu	37	22	40066944	40066944	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:40066944C>T	uc003ayc.2	+	26	4524	c.4524C>T	c.(4522-4524)CAC>CAT	p.H1508H	CACNA1I_uc003ayd.2_Silent_p.H1473H|CACNA1I_uc003aye.2_Silent_p.H1423H|CACNA1I_uc003ayf.2_Silent_p.H1388H	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1508	Extracellular (Potential).|IV.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCTGGAGCACTACAATCAGC	0.602			NA											15	69					0	0	0.004007	0	0
FBLN1	2192	broad.mit.edu	37	22	45929726	45929726	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr22:45929726G>T	uc003bgj.1	+	7	879	c.732G>T	c.(730-732)CGG>CGT	p.R244R	FBLN1_uc003bgg.1_Silent_p.R244R|FBLN1_uc003bgh.2_Silent_p.R244R|FBLN1_uc010gzz.2_Silent_p.R282R|FBLN1_uc003bgi.1_Silent_p.R244R	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	244	EGF-like 2; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGCCAGCGGGACAGCAGCT	0.572			NA											40	136					1.06522e-23	1.87322e-23	0.003214	1	0
CNTN4	152330	broad.mit.edu	37	3	2787225	2787225	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:2787225G>T	uc003bpc.2	+	5	423	c.202G>T	c.(202-204)GAT>TAT	p.D68Y	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.D68Y	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	68	Ig-like C2-type 1.				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)		AAATGGAACAGATGTTGACAC	0.348			NA											13	66					0.000219431	0.000256131	0.00245	1	0
SLC6A11	6538	broad.mit.edu	37	3	10980044	10980044	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:10980044G>C	uc003bvz.2	+	14	1889	c.1855G>C	c.(1855-1857)GAC>CAC	p.D619H		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	619	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACTCAAGAGTGACGGGACCAT	0.552			NA											4	89					0	0	0.000602	0	0
XPC	7508	broad.mit.edu	37	3	14220052	14220052	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:14220052G>A	uc011ave.1	-	1	121	c.17C>T	c.(16-18)GCG>GTG	p.A6V	XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Missense_Mutation_p.A6V|LSM3_uc003byn.2_5'Flank	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	6					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						CCCGCCGGCCGCGCGTTTCCG	0.701			NA	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				9	46					0	0	0.008291	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713590	30713590	+	Silent	SNP	C	C	T	rs146030104	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:30713590C>T	uc003ceo.2	+	4	1297	c.915C>T	c.(913-915)CTC>CTT	p.L305L	TGFBR2_uc003cen.2_Silent_p.L330L	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	305	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						AGAACATACTCCAGTTCCTGA	0.517			NA											18	64					0	0	0.007413	0	0
ITGA9	3680	broad.mit.edu	37	3	37536029	37536030	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:37536029_37536030CC>TT	uc003chd.2	+	5	635_636	c.582_583CC>TT	c.(580-585)TGCCAG>TGTTAG	p.Q195*	ITGA9_uc003chc.2_Nonsense_Mutation_p.Q195*	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	195	Extracellular (Potential).|FG-GAP 3.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACGGCTCCTGCCAGGCTGGGAT	0.52			NA											12	27					0	0	0.004672	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347960	38347960	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:38347960G>T	uc010hhc.1	+	2	485	c.443G>T	c.(442-444)GGC>GTC	p.G148V	SLC22A14_uc003cia.2_Missense_Mutation_p.G148V|SLC22A14_uc003cib.2_Missense_Mutation_p.G148V|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	148	Extracellular (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATCCAGTTTGGCCTCAATGAC	0.478			NA											37	106					5.71845e-15	9.03623e-15	0.005524	1	0
SCN5A	6331	broad.mit.edu	37	3	38598729	38598729	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:38598729G>A	uc003cio.2	-	24	4486	c.4292C>T	c.(4291-4293)TCC>TTC	p.S1431F	SCN5A_uc003cin.2_Missense_Mutation_p.S1430F|SCN5A_uc003cil.3_Missense_Mutation_p.S1431F|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Missense_Mutation_p.S1430F|SCN5A_uc011ayr.1_Missense_Mutation_p.S1377F|SCN5A_uc010hhj.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1431					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TACCCCCCTGGAGTCCACAGC	0.502			NA											5	55					0	0	0.004482	0	0
SCN5A	6331	broad.mit.edu	37	3	38645303	38645303	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:38645303C>G	uc003cio.2	-	12	1984	c.1790G>C	c.(1789-1791)TGC>TCC	p.C597S	SCN5A_uc003cin.2_Missense_Mutation_p.C597S|SCN5A_uc003cil.3_Missense_Mutation_p.C597S|SCN5A_uc010hhi.2_Missense_Mutation_p.C597S|SCN5A_uc010hhk.2_Missense_Mutation_p.C597S|SCN5A_uc011ayr.1_Missense_Mutation_p.C597S|SCN5A_uc010hhj.1_Missense_Mutation_p.C208S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	597					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CACCCCATTGCAGTCCACAGT	0.667			NA											31	127					0	0	0.002096	0	0
MYL3	4634	broad.mit.edu	37	3	46899892	46899892	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:46899892C>T	uc003cql.1	-	5	634	c.541G>A	c.(541-543)GGC>AGC	p.G181S		NM_000258	NP_000249	P08590	MYL3_HUMAN	slow skeletal ventricular myosin alkali light	181	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle				0				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TTGATGCAGCCATTGGAGTCC	0.607	Melanoma(166;130 1949 2249 18977 46142)		NA											12	46					0	0	0.000978	0	0
DNAH1	25981	broad.mit.edu	37	3	52403852	52403852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:52403852G>T	uc011bef.1	+	38	6216	c.5955G>T	c.(5953-5955)ATG>ATT	p.M1985I		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1985	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAATGACCATGATGTTCGAGG	0.622			NA											16	33					0.00400662	0.00450409	0.004007	1	0
LRTM1	57408	broad.mit.edu	37	3	54958689	54958689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:54958689G>T	uc003dhl.2	-	2	695	c.561C>A	c.(559-561)CAC>CAA	p.H187Q	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	187	Extracellular (Potential).|LRRCT.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GACCGAGCAAGTGGCAATTGC	0.468			NA											26	60					1.77063e-15	2.82458e-15	0.005443	1	0
PTPRG	5793	broad.mit.edu	37	3	61547990	61547990	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:61547990G>T	uc003dlb.2	+	1	748	c.29G>T	c.(28-30)TGG>TTG	p.W10L	PTPRG_uc003dlc.2_Missense_Mutation_p.W10L|PTPRG_uc003dla.3_RNA	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	10					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCGTGTTGGTGGATTTTGTTC	0.572			NA											33	68					6.90743e-12	1.02616e-11	0.003755	1	0
ROBO1	6091	broad.mit.edu	37	3	78766455	78766455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:78766455C>A	uc003dqe.2	-	7	1095	c.887G>T	c.(886-888)AGG>ATG	p.R296M	ROBO1_uc003dqb.2_Missense_Mutation_p.R257M|ROBO1_uc003dqc.2_Missense_Mutation_p.R257M|ROBO1_uc003dqd.2_Missense_Mutation_p.R257M|ROBO1_uc003dqf.1_5'Flank	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	296	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATCATCTTTCCTCCATCGTAC	0.443			NA											58	134					1.34159e-35	2.46265e-35	0.00361	1	0
CHMP2B	25978	broad.mit.edu	37	3	87302634	87302634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:87302634G>A	uc003dqp.3	+	5	765	c.505G>A	c.(505-507)GAA>AAA	p.E169K	CHMP2B_uc011bgn.1_Missense_Mutation_p.E128K	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	chromatin modifying protein 2B	169					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			skin(2)|ovary(1)	3	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGTTCTTGATGAAATTGGAAT	0.358			NA											9	24					0	0	0.006214	0	0
EPHA6	285220	broad.mit.edu	37	3	96706376	96706376	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:96706376C>T	uc010how.1	+	3	696	c.653C>T	c.(652-654)ACA>ATA	p.T218I	EPHA6_uc003drp.1_Missense_Mutation_p.T218I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	123	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						TGCAAAGAAACATTTAATCTG	0.393			NA											45	106					0	0	0.00874	0	0
LNP1	348801	broad.mit.edu	37	3	100170692	100170692	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:100170692G>A	uc003dtx.3	+	3	1566	c.286G>A	c.(286-288)GAG>AAG	p.E96K	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	96											0						GTCATTCAAGGAGCCACTGGA	0.448			NA											14	60					0	0	0.004007	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571804	101571804	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:101571804A>G	uc003dvp.2	+	4	650	c.535A>G	c.(535-537)AGG>GGG	p.R179G	NFKBIZ_uc003dvo.2_Missense_Mutation_p.R79G|NFKBIZ_uc010hpo.2_Missense_Mutation_p.R79G|NFKBIZ_uc003dvq.2_Missense_Mutation_p.R179G	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	179	Nuclear localization signal (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						TGCTTGCAAAAGGCCAGCTCT	0.423			NA											15	69					0	0	0.00245	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111785291	111785291	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:111785291C>A	uc010hqb.2	+	11	1400	c.1230C>A	c.(1228-1230)CTC>CTA	p.L410L	TMPRSS7_uc011bhr.1_Silent_p.L265L	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	536	Extracellular (Potential).|LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						ATGGCCCTCTCATCTGTGATG	0.507			NA											25	95					5.45727e-16	8.7473e-16	0.008361	1	0
GPR156	165829	broad.mit.edu	37	3	119886566	119886566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:119886566C>A	uc011bjf.1	-	9	1758	c.1758G>T	c.(1756-1758)ATG>ATT	p.M586I	GPR156_uc011bjg.1_Missense_Mutation_p.M582I	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	586	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		TGGAGAGGGGCATCTTTTGGG	0.607			NA											10	49					4.68919e-08	6.27097e-08	0.008291	1	0
STXBP5L	9515	broad.mit.edu	37	3	121126327	121126327	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:121126327A>G	uc003eec.3	+	24	3037	c.2897A>G	c.(2896-2898)CAG>CGG	p.Q966R	STXBP5L_uc011bji.1_Missense_Mutation_p.Q942R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	966	WD 12.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		CTGCCTTCTCAGACTTGCCTT	0.418			NA											3	79					0	0	0.000248	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631876	122631876	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:122631876T>G	uc003efz.1	-	18	2843	c.2539A>C	c.(2539-2541)ACC>CCC	p.T847P	SEMA5B_uc011bju.1_Missense_Mutation_p.T789P|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.T847P|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	847	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		TGCGGGGAGGTGCTCCCGCTG	0.587			NA											6	13					0	0	0.001168	0	0
EPHB1	2047	broad.mit.edu	37	3	134670615	134670615	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:134670615G>T	uc003eqt.2	+	3	746	c.526G>T	c.(526-528)GCT>TCT	p.A176S	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	176	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.A176T(2)		lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TTTTTACCTCGCTTTTCAGGA	0.463			NA											40	227					2.37825e-27	4.27192e-27	0.002522	1	0
SLC25A36	55186	broad.mit.edu	37	3	140692765	140692765	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:140692765G>T	uc003etr.2	+	6	895	c.660G>T	c.(658-660)GTG>GTT	p.V220V	SLC25A36_uc003ets.2_Silent_p.V220V|SLC25A36_uc003etq.2_Silent_p.V63V|SLC25A36_uc011bmz.1_Silent_p.V194V	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	220					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						AAGAGTCTGTGAAAGAAGCAT	0.348			NA											14	18					4.3838e-07	5.61596e-07	0.001855	1	0
PAQR9	344838	broad.mit.edu	37	3	142681404	142681404	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:142681404G>A	uc003evg.2	-	1	775	c.775C>T	c.(775-777)CTC>TTC	p.L259F	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	259	Helical; (Potential).					integral to membrane	receptor activity				0						CAGCTCTCGAGCATAATGGGG	0.617			NA											26	66					0	0	0.007291	0	0
HLTF	6596	broad.mit.edu	37	3	148789207	148789207	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:148789207T>A	uc003ewq.1	-	7	944	c.726A>T	c.(724-726)CCA>CCT	p.P242P	HLTF_uc003ewr.1_Silent_p.P242P|HLTF_uc003ews.1_Silent_p.P242P|HLTF_uc010hve.1_Silent_p.P242P	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	242					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTTTTTGATGTGGAAGCAGTG	0.358			NA											12	21					0	0	0.004007	0	0
MED12L	116931	broad.mit.edu	37	3	151101949	151101949	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:151101949C>A	uc003eyp.2	+	33	4802	c.4764C>A	c.(4762-4764)TCC>TCA	p.S1588S	MED12L_uc011bnz.1_Silent_p.S1448S|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.S751S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1588					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAATGCATCCCCTGGGGGAT	0.358			NA											22	33					5.49717e-05	6.53032e-05	0.00333	1	0
KPNA4	3840	broad.mit.edu	37	3	160239566	160239566	+	Splice_Site	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:160239566C>T	uc003fdn.2	-	11	1209	c.903_splice	c.e11+1	p.Q301_splice		NM_002268	NP_002259	O00629	IMA4_HUMAN	karyopherin alpha 4						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AACAAACTTACCTGAACTTTA	0.348			NA											7	78					0	0	0.004482	0	0
BCHE	590	broad.mit.edu	37	3	165547481	165547481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:165547481G>T	uc003fem.3	-	2	1501	c.1341C>A	c.(1339-1341)TAC>TAA	p.Y447*	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	447					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTTCAAAATAGTAGAAAAAGG	0.428			NA											18	56					1.33834e-09	1.87984e-09	0.007413	1	0
KLHL6	89857	broad.mit.edu	37	3	183217574	183217574	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:183217574C>A	uc003flr.2	-	4	1009	c.951G>T	c.(949-951)CAG>CAT	p.Q317H	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	317										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ACACCTCAGACTGGAACTCAT	0.507			NA											10	19					1.58986e-06	1.99104e-06	0.008291	1	0
FETUB	26998	broad.mit.edu	37	3	186358347	186358347	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:186358347C>T	uc010hyq.2	+	2	359	c.98C>T	c.(97-99)TCC>TTC	p.S33F	FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.S33F|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Missense_Mutation_p.S33F|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Missense_Mutation_p.S33F	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	33	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCTCTGCTCTCCCGGGGCTGC	0.577			NA											95	181					0	0	0.00361	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176992	193176992	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr3:193176992C>A	uc003ftd.2	-	14	1660	c.1552G>T	c.(1552-1554)GGC>TGC	p.G518C	ATP13A4_uc003fte.1_Missense_Mutation_p.G518C|ATP13A4_uc011bsr.1_Translation_Start_Site|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Missense_Mutation_p.G224C	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	518	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAAGCCTGGCCTGAGGCAAAG	0.532			NA											11	66					7.03913e-09	9.72415e-09	0.001368	1	0
SCFD2	152579	broad.mit.edu	37	4	53773703	53773703	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:53773703C>T	uc003gzu.2	-	7	1897	c.1763G>A	c.(1762-1764)AGG>AAG	p.R588K	SCFD2_uc010igm.2_Intron	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	588					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAATCTGGCCTCTCGGGATG	0.403			NA											37	51					0	0	0.004289	0	0
KDR	3791	broad.mit.edu	37	4	55972944	55972944	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:55972944A>T	uc003has.2	-	11	1748	c.1446T>A	c.(1444-1446)TGT>TGA	p.C482*	KDR_uc003hat.1_Nonsense_Mutation_p.C482*|KDR_uc011bzx.1_Nonsense_Mutation_p.C482*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	482	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCATTCTTCACAAGGGTATG	0.338			NA	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			5	42					0	0	0.001168	0	0
CLOCK	9575	broad.mit.edu	37	4	56342213	56342213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:56342213C>A	uc003haz.1	-	8	1191	c.265G>T	c.(265-267)GCA>TCA	p.A89S	CLOCK_uc003hba.1_Missense_Mutation_p.A89S	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	89					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)			TCTGACTGTGCAGTGATTTCT	0.378			NA											11	33					2.27111e-07	2.94322e-07	0.001368	1	0
AMBN	258	broad.mit.edu	37	4	71467241	71467241	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:71467241C>T	uc003hfl.2	+	6	476	c.401C>T	c.(400-402)ACC>ATC	p.T134I		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	134					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			GCTGCAACCACCAACCAGGCC	0.547			NA									OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	103					0	0	0.00874	0	0
SHROOM3	57619	broad.mit.edu	37	4	77663049	77663049	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:77663049G>T	uc011cbx.1	+	5	4676	c.3723G>T	c.(3721-3723)AGG>AGT	p.R1241S	SHROOM3_uc011cbz.1_Missense_Mutation_p.R1065S|SHROOM3_uc003hkf.1_Missense_Mutation_p.R1116S|SHROOM3_uc003hkg.2_Missense_Mutation_p.R1019S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1241					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TGAGGTCCAGGTCATCTCCCG	0.652			NA											6	21					1.06961e-07	1.40518e-07	0.00308	1	0
FRAS1	80144	broad.mit.edu	37	4	79455609	79455609	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:79455609G>A	uc003hlb.2	+	71	11372	c.10932G>A	c.(10930-10932)CTG>CTA	p.L3644L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3639	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTAGATTCCTGATACCCATTG	0.468			NA											9	132					0	0	0.000978	0	0
MEPE	56955	broad.mit.edu	37	4	88766489	88766489	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:88766489C>A	uc003hqy.2	+	4	508	c.469C>A	c.(469-471)CCA>ACA	p.P157T	MEPE_uc010ikn.2_Missense_Mutation_p.P44T	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	157					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TATAATGGGGCCAGTGACTGC	0.408			NA											20	29					2.27731e-05	2.74424e-05	0.001882	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99358197	99358197	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:99358197G>A	uc003htx.3	+	14	1864	c.1674G>A	c.(1672-1674)CTG>CTA	p.L558L	RAP1GDS1_uc003htw.3_Silent_p.L559L|RAP1GDS1_uc003htv.3_Silent_p.L558L|RAP1GDS1_uc003htz.3_Silent_p.L509L|RAP1GDS1_uc003hty.3_Silent_p.L510L|RAP1GDS1_uc003hua.3_Silent_p.L467L	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	558							binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CCATGGTCCTGATATGTGCTC	0.323			NA	T	NUP98	T-ALL								5	25					0	0	0.000602	0	0
ADH6	130	broad.mit.edu	37	4	100131439	100131439	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:100131439G>T	uc003hup.3	-	5	461	c.367C>A	c.(367-369)CTG>ATG	p.L123M	uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.L123M|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Missense_Mutation_p.L123M	NM_000672	NP_000663	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 2	123					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TCAGACATCAGTTGGGTTTTT	0.333			NA											17	40					4.75885e-15	7.53766e-15	0.00499	1	0
LEF1	51176	broad.mit.edu	37	4	109084820	109084820	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:109084820G>T	uc003hyt.1	-	3	973	c.318C>A	c.(316-318)CCC>CCA	p.P106P	LEF1_uc011cfj.1_5'UTR|LEF1_uc011cfk.1_Silent_p.P38P|LEF1_uc003hyu.1_Silent_p.P106P|LEF1_uc003hyv.1_Silent_p.P106P|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	106	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCGAGTAGGAGGGTCCCTTGT	0.423			NA											10	38					2.74318e-10	3.9272e-10	0.006214	1	0
ENPEP	2028	broad.mit.edu	37	4	111474593	111474593	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:111474593G>T	uc003iab.3	+	18	2966	c.2624G>T	c.(2623-2625)TGG>TTG	p.W875L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	875	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAACTCAACTGGGACTATCTA	0.398			NA											38	68					3.43241e-23	5.98885e-23	0.002222	1	0
ANK2	287	broad.mit.edu	37	4	114274602	114274602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:114274602G>T	uc003ibe.3	+	38	4928	c.4828G>T	c.(4828-4830)GAA>TAA	p.E1610*	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Nonsense_Mutation_p.E1625*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1577					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCACCTTTAGAAATCACTGA	0.403			NA											26	26					4.72057e-08	6.28784e-08	0.003954	1	0
ANK2	287	broad.mit.edu	37	4	114279870	114279870	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:114279870A>T	uc003ibe.3	+	38	10196	c.10096A>T	c.(10096-10098)ACC>TCC	p.T3366S	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.T668S|ANK2_uc011cgb.1_Missense_Mutation_p.T3381S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3333					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGATCTAGACACCTCTGTCCA	0.463			NA											35	62					0	0	0.003271	0	0
ANK2	287	broad.mit.edu	37	4	114286264	114286264	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:114286264C>A	uc003ibe.3	+	41	11058	c.10958C>A	c.(10957-10959)ACA>AAA	p.T3653K	ANK2_uc003ibd.3_Missense_Mutation_p.T1559K|ANK2_uc003ibf.3_Missense_Mutation_p.T1568K|ANK2_uc011cgc.1_Missense_Mutation_p.T744K|ANK2_uc003ibg.3_Missense_Mutation_p.T552K|ANK2_uc003ibh.3_Missense_Mutation_p.T242K|ANK2_uc011cgd.1_Missense_Mutation_p.T955K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3620	Death.		T -> K (in a colorectal cancer sample; somatic mutation).		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	p.T3653K(1)		central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGACCAACACAGAACCTCTC	0.373			NA											12	59					7.03913e-09	9.72415e-09	0.001368	1	0
ANXA5	308	broad.mit.edu	37	4	122589682	122589682	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:122589682C>T	uc003idu.3	-	12	974	c.904G>A	c.(904-906)GGA>AGA	p.G302R	ANXA5_uc003idv.3_Missense_Mutation_p.G302R|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.G258R|ANXA5_uc010inn.2_Missense_Mutation_p.G242R|ANXA5_uc010ino.2_Missense_Mutation_p.G202R	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	302	Annexin 4.				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						GATGTATCTCCCTGAAACCAA	0.423	Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)		NA											5	56					0	0	0.00308	0	0
INTU	27152	broad.mit.edu	37	4	128577843	128577843	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:128577843G>T	uc003ifk.1	+	3	805	c.735G>T	c.(733-735)GAG>GAT	p.E245D	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	245	PDZ.									ovary(1)	1						AAAACATCGAGAGAGTTCTGT	0.308			NA											14	31					1.99824e-07	2.59461e-07	0.00499	1	0
INTU	27152	broad.mit.edu	37	4	128626894	128626894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:128626894G>T	uc003ifk.1	+	11	1785	c.1715G>T	c.(1714-1716)CGA>CTA	p.R572L	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	572										ovary(1)	1						CATCACCTCCGACCTTTGGCA	0.448			NA											46	79					7.05377e-20	1.19646e-19	0.00361	1	0
PRMT10	90826	broad.mit.edu	37	4	148575513	148575513	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:148575513T>A	uc003ilc.2	-	9	1677	c.1535A>T	c.(1534-1536)GAT>GTT	p.D512V	PRMT10_uc003ilb.2_Missense_Mutation_p.D156V|PRMT10_uc003ild.2_Missense_Mutation_p.D399V	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	512						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						CTCTACAGCATCTGGTTTACT	0.383			NA											26	46					0	0	0.004656	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525336	154525336	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:154525336G>A	uc003inm.3	+	25	3221	c.3169G>A	c.(3169-3171)GAA>AAA	p.E1057K	KIAA0922_uc010ipp.2_Missense_Mutation_p.E1058K|KIAA0922_uc010ipq.2_Missense_Mutation_p.E826K	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1057	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				GAATAAAGAAGAAAACACACT	0.378			NA											11	57					0	0	0.008291	0	0
PDGFC	56034	broad.mit.edu	37	4	157732074	157732074	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:157732074C>T	uc003iph.1	-	3	901	c.410G>A	c.(409-411)GGA>GAA	p.G137E	PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_5'UTR|PDGFC_uc011cir.1_Intron	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	137	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AATTTGATTTCCTTTAGAAAT	0.398			NA											20	28					0	0	0.007413	0	0
MARCH1	55016	broad.mit.edu	37	4	164534471	164534471	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:164534471G>A	uc003iqs.1	-	5	1214	c.237C>T	c.(235-237)ATC>ATT	p.I79I	MARCH1_uc003iqr.1_Silent_p.I62I	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	79	RING-CH-type.				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTACCTGCAGATGTCCTGAG	0.428			NA											7	66					0	0	0.004482	0	0
DDX60	55601	broad.mit.edu	37	4	169196580	169196580	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:169196580C>G	uc003irp.2	-	16	2512	c.2220G>C	c.(2218-2220)CTG>CTC	p.L740L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	740							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCATGTATTGCAGTTGGAACC	0.403			NA											13	33					0	0	0.001855	0	0
IRX1	79192	broad.mit.edu	37	5	3599534	3599534	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:3599534G>A	uc003jde.2	+	2	524	c.472G>A	c.(472-474)GGC>AGC	p.G158S		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	158	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CCCCACCAAGGGCGAGAAGAT	0.637			NA											15	94					0	0	0.00499	0	0
SEMA5A	9037	broad.mit.edu	37	5	9122921	9122921	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:9122921A>T	uc003jek.2	-	14	2340	c.1628T>A	c.(1627-1629)TTT>TAT	p.F543Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	543	Extracellular (Potential).|TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCACACACCAAAGTGCCCATC	0.547			NA											19	95					0	0	0.007413	0	0
CTNND2	1501	broad.mit.edu	37	5	11022887	11022887	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:11022887C>A	uc003jfa.1	-	17	3138	c.2993G>T	c.(2992-2994)GGA>GTA	p.G998V	CTNND2_uc010itt.2_Missense_Mutation_p.G907V|CTNND2_uc011cmy.1_Missense_Mutation_p.G661V|CTNND2_uc011cmz.1_Missense_Mutation_p.G565V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G590V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	998	ARM 9.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TTACTTATCTCCTTTGCTTTT	0.483			NA											30	47					2.80507e-11	4.09455e-11	0.002445	1	0
DNAH5	1767	broad.mit.edu	37	5	13885257	13885257	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:13885257T>A	uc003jfd.2	-	19	2866	c.2824A>T	c.(2824-2826)ACG>TCG	p.T942S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	942	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTTTTCCTCGTGACTGTCGTC	0.418			NA							Kartagener_syndrome				23	53					0	0	0.00278	0	0
PRDM9	56979	broad.mit.edu	37	5	23522775	23522775	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:23522775C>A	uc003jgo.2	+	8	845	c.663C>A	c.(661-663)CCC>CCA	p.P221P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	221					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						CCCATGGGCCCCCTACATTTG	0.532			NA								HNSCC(3;0.000094)			16	46					2.23348e-06	2.78666e-06	0.004007	1	0
RNASEN	29102	broad.mit.edu	37	5	31495408	31495408	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:31495408C>A	uc003jhg.2	-	11	2099	c.1740G>T	c.(1738-1740)CCG>CCT	p.P580P	RNASEN_uc003jhh.2_Silent_p.P543P|RNASEN_uc003jhi.2_Silent_p.P543P|RNASEN_uc010iui.1_Silent_p.P503P	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	580	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						AGTTCGTAGGCGGGGAGACTG	0.383			NA											10	18					3.86212e-05	4.60431e-05	0.008291	1	0
C7	730	broad.mit.edu	37	5	40945382	40945382	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:40945382C>T	uc003jmh.2	+	7	764	c.650C>T	c.(649-651)TCA>TTA	p.S217L	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	217	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				GAACACACATCATCTAGTCGG	0.303			NA											5	29					0	0	0.000602	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41048553	41048553	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:41048553A>G	uc003jmj.3	-	16	2047	c.1557T>C	c.(1555-1557)CCT>CCC	p.P519P	HEATR7B2_uc003jmi.3_Silent_p.P74P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	519							binding			ovary(6)|central_nervous_system(2)	8						CTAAACTGGCAGGCATAGATA	0.423			NA											12	27					0	0	0.000978	0	0
HCN1	348980	broad.mit.edu	37	5	45262862	45262862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:45262862C>A	uc003jok.2	-	8	1859	c.1834G>T	c.(1834-1836)GGT>TGT	p.G612C		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	612	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TTGAAAACACCAGTGTTCAGA	0.413			NA											11	49					2.80697e-09	3.92625e-09	0.000978	1	0
TTC37	9652	broad.mit.edu	37	5	94863776	94863776	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:94863776C>T	uc003klb.2	-	13	1345	c.1075G>A	c.(1075-1077)GCT>ACT	p.A359T	TTC37_uc010jbf.1_Missense_Mutation_p.A311T	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	359							binding			ovary(3)|pancreas(1)	4						TTAATCAAAGCCTCTGCTTTC	0.378			NA											14	27					0	0	0.003163	0	0
AQPEP	206338	broad.mit.edu	37	5	115298444	115298444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:115298444C>T	uc003kro.2	+	1	294	c.130C>T	c.(130-132)CCA>TCA	p.P44S	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	44	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CGAGCGCGTCCCACCGTCGGA	0.697			NA											10	11					0	0	0.006214	0	0
FTMT	94033	broad.mit.edu	37	5	121188072	121188072	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:121188072C>A	uc003kss.2	+	1	423	c.414C>A	c.(412-414)GGC>GGA	p.G138G		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	138	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGCGAGGAGGCCGGATCCGCC	0.582			NA											26	29					7.41945e-09	1.01865e-08	0.005443	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130831345	130831345	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:130831345C>T	uc003kvn.1	-	13	1634	c.1428G>A	c.(1426-1428)CGG>CGA	p.R476R	RAPGEF6_uc003kvp.1_Silent_p.R526R|RAPGEF6_uc003kvo.1_Silent_p.R476R|RAPGEF6_uc010jdi.1_Silent_p.R476R|RAPGEF6_uc010jdj.1_Silent_p.R476R|RAPGEF6_uc003kvq.2_Silent_p.R193R|RAPGEF6_uc003kvr.2_Silent_p.R476R|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Silent_p.R476R	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	476	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAATACAATCCGTGTCACCT	0.358	Melanoma(168;435 1955 13113 13877 23213)		NA											5	27					0	0	0.001168	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223588	134223588	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:134223588G>T	uc003lac.1	+	2	965	c.307G>T	c.(307-309)GAC>TAC	p.D103Y	TXNDC15_uc010jdy.1_Intron|TXNDC15_uc011cxv.1_RNA	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	disulfide isomerase precursor	103	Extracellular (Potential).				cell redox homeostasis	integral to membrane				ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAAGCTGAGGACAAAGTGAG	0.607			NA											8	40					0.000442599	0.000508648	0.006214	1	0
PCDHA6	56142	broad.mit.edu	37	5	140208796	140208796	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:140208796G>T	uc003lho.2	+	1	1147	c.1120G>T	c.(1120-1122)GTG>TTG	p.V374L	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_Missense_Mutation_p.V374L|PCDHA6_uc011dab.1_Missense_Mutation_p.V374L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	374	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTAATTAGCGTGAACGACCT	0.488			NA											55	68					7.07328e-35	1.29131e-34	0.00361	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236734	140236734	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:140236734C>G	uc003lhx.2	+	1	1101	c.1101C>G	c.(1099-1101)GTC>GTG	p.V367V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.V367V|PCDHA10_uc011dad.1_Silent_p.V367V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	367	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCACCGTCATTGCCCTAA	0.507			NA											34	61					0	0	0.003271	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237414	140237414	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:140237414G>T	uc003lhx.2	+	1	1781	c.1781G>T	c.(1780-1782)CGC>CTC	p.R594L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.R594L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	594	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAAGGTGCGCGCAGTGGAC	0.672			NA											5	30					8.12818e-05	9.57097e-05	0.001984	1	0
MYOZ3	91977	broad.mit.edu	37	5	150051463	150051463	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:150051463G>A	uc003lss.2	+	5	1004	c.417G>A	c.(415-417)CTG>CTA	p.L139L	MYOZ3_uc003lsr.2_Silent_p.L139L	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	myozenin 3	139						sarcomere	protein binding			skin(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCGCCCTGGCGCCAGGTG	0.736			NA											4	4					0	0	0.000248	0	0
KIF4B	285643	broad.mit.edu	37	5	154394287	154394287	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:154394287G>C	uc010jih.1	+	1	1028	c.868G>C	c.(868-870)GAT>CAT	p.D290H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	290	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)			GCCCTACAGAGATTCCAAGTT	0.443			NA											65	92					0	0	0.00361	0	0
DOCK2	1794	broad.mit.edu	37	5	169145670	169145670	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:169145670G>T	uc003maf.2	+	22	2222	c.2142G>T	c.(2140-2142)ATG>ATT	p.M714I	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.M206I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	714					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAATTGATGACAGTGCTGA	0.368			NA											17	17					1.99824e-07	2.59461e-07	0.00499	1	0
FOXI1	2299	broad.mit.edu	37	5	169535566	169535566	+	Missense_Mutation	SNP	G	G	T	rs150705492	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:169535566G>T	uc003mai.3	+	2	1133	c.1088G>T	c.(1087-1089)AGT>ATT	p.S363I	FOXI1_uc003maj.3_Missense_Mutation_p.S268I	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	363					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTACAACAGTGTCAACACC	0.572			NA							Pendred_syndrome				31	36					2.46105e-21	4.19569e-21	0.002096	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171849423	171849423	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:171849423G>A	uc003mbr.2	-	2	324	c.153C>T	c.(151-153)CTC>CTT	p.L51L	SH3PXD2B_uc003mbs.1_Silent_p.L51L	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	51	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTTACCTGGAGGTCAAAAA	0.488			NA											7	18					0	0	0.001984	0	0
CLK4	57396	broad.mit.edu	37	5	178050304	178050304	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:178050304T>C	uc003mjf.1	-	2	222	c.114A>G	c.(112-114)CAA>CAG	p.Q38Q	CLK4_uc003mjg.1_5'UTR|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Silent_p.Q38Q|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Silent_p.Q38Q|CLK4_uc011dgj.1_Silent_p.Q38Q|CLK4_uc003mji.2_Silent_p.Q38Q|CLK4_uc010jkw.1_Silent_p.Q38Q	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	38						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		GCCTGTTCTCTTGTGTGCTAC	0.388			NA											12	71					0	0	0.00245	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178557085	178557085	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:178557085C>T	uc003mjw.2	-	16	2305	c.2305G>A	c.(2305-2307)GAG>AAG	p.E769K		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	769	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTGCCTGTCTCCAGGTTCTTG	0.567			NA											12	29					0	0	0.001855	0	0
BMP6	654	broad.mit.edu	37	6	7862567	7862567	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:7862567T>G	uc003mxu.3	+	4	1218	c.1040T>G	c.(1039-1041)GTG>GGG	p.V347G		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	347					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					GCAGGCCTGGTGGGCAGAGAC	0.557			NA											20	83					0	0	0.00333	0	0
GPX5	2880	broad.mit.edu	37	6	28497230	28497230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:28497230G>T	uc003nll.2	+	2	92	c.90G>T	c.(88-90)ATG>ATT	p.M30I	GPX5_uc003nlm.2_Missense_Mutation_p.M30I|GPX5_uc003nln.2_RNA	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	30					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			skin(1)	1					Glutathione(DB00143)	TCTTCCAGATGGATTGCCACA	0.368			NA											29	40					3.86903e-22	6.61288e-22	0.002836	1	0
GRM4	2914	broad.mit.edu	37	6	34008522	34008522	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:34008522C>T	uc003oir.3	-	6	1342	c.1172G>A	c.(1171-1173)CGT>CAT	p.R391H	GRM4_uc011dsn.1_Missense_Mutation_p.R344H|GRM4_uc010jvh.2_Missense_Mutation_p.R391H|GRM4_uc010jvi.2_Missense_Mutation_p.R83H|GRM4_uc003oio.2_Missense_Mutation_p.R83H|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R251H|GRM4_uc003oiq.2_Missense_Mutation_p.R258H|GRM4_uc011dsm.1_Missense_Mutation_p.R222H	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	391	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	AATTCGCTCACGGTCTGCAAT	0.597			NA											26	36					0	0	0.008361	0	0
MAPK14	1432	broad.mit.edu	37	6	36075254	36075254	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:36075254G>T	uc003olp.2	+	11	1345	c.864G>T	c.(862-864)ATG>ATT	p.M288I	MAPK14_uc003olq.2_Missense_Mutation_p.M288I|MAPK14_uc003olr.2_Missense_Mutation_p.C262F|MAPK14_uc011dti.1_Missense_Mutation_p.M211I	NM_001315	NP_001306	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14 isoform 1	288	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						TGGAGAAGATGCTTGTATTGG	0.433	Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)		NA											59	96					1.37693e-34	2.50692e-34	0.00361	1	0
DNAH8	1769	broad.mit.edu	37	6	38783335	38783335	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:38783335G>T	uc003ooe.1	+	24	3374	c.2774G>T	c.(2773-2775)GGG>GTG	p.G925V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GCTCACTGGGGGCAACAGCAA	0.488			NA											16	24					4.7546e-09	6.6091e-09	0.004007	1	0
MRPL2	51069	broad.mit.edu	37	6	43025848	43025848	+	Missense_Mutation	SNP	T	T	A	rs141171843	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:43025848T>A	uc003ots.1	-	2	343	c.220A>T	c.(220-222)ATT>TTT	p.I74F	KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_Missense_Mutation_p.I74F|MRPL2_uc010jyi.2_3'UTR|MRPL2_uc003ott.3_Missense_Mutation_p.I74F|KLC4_uc011dvd.1_5'Flank|KLC4_uc003otu.2_5'Flank|KLC4_uc003otv.1_5'Flank|KLC4_uc003otw.1_5'Flank|KLC4_uc003otx.1_5'Flank|KLC4_uc003oty.1_5'Flank|KLC4_uc003otz.1_5'Flank	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	74					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ACTGGTGTAATGGTGTACTTG	0.512			NA											50	103					0	0	0.00361	0	0
TMEM63B	55362	broad.mit.edu	37	6	44119703	44119703	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:44119703C>G	uc003owr.2	+	19	1858	c.1794C>G	c.(1792-1794)CTC>CTG	p.L598L	TMEM63B_uc003ows.2_Silent_p.L501L|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	598						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGATCCGGCTCTGCCTGGCGC	0.667			NA									OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	0.000602	0	0
CDC5L	988	broad.mit.edu	37	6	44397514	44397514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:44397514C>G	uc003oxl.2	+	14	2217	c.1958C>G	c.(1957-1959)TCA>TGA	p.S653*		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	653	Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAGAGCTCTCAAGTGAAGCT	0.428			NA											15	63					0	0	0.00499	0	0
TFAP2B	7021	broad.mit.edu	37	6	50786607	50786607	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:50786607G>T	uc003pag.2	+	1	169	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	1					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					TCACATGAATGCACTCACCTC	0.502	Pancreas(116;1373 2332 5475 10752)		NA											4	34					5.9392e-07	7.56514e-07	0.001168	1	0
GSTA1	2938	broad.mit.edu	37	6	52657738	52657738	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:52657738G>T	uc003paz.2	-	6	574	c.462C>A	c.(460-462)AGC>AGA	p.S154R		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	154	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TGTCAGCCCGGCTCAGCTTGT	0.517			NA											27	128					1.75199e-13	2.68611e-13	0.007291	1	0
GSTA5	221357	broad.mit.edu	37	6	52701069	52701069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:52701069G>T	uc003pba.1	-	4	307	c.237C>A	c.(235-237)TAC>TAA	p.Y79*		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	79	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.0912)				Glutathione(DB00143)	CATAAAGGTTGTATTTGCTGG	0.433			NA											47	116					2.77807e-22	4.78485e-22	0.003214	1	0
DST	667	broad.mit.edu	37	6	56341021	56341021	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:56341021T>C	uc003pdf.2	-	86	15461	c.15433A>G	c.(15433-15435)ACA>GCA	p.T5145A	DST_uc003pcz.3_Missense_Mutation_p.T4967A|DST_uc011dxj.1_Missense_Mutation_p.T4996A|DST_uc011dxk.1_Missense_Mutation_p.T5007A|DST_uc003pcy.3_Missense_Mutation_p.T4641A	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7053					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAGTAAGTGTAGTTTCAGCC	0.433			NA											7	18					0	0	0.00308	0	0
EYS	346007	broad.mit.edu	37	6	66112371	66112371	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:66112371C>G	uc011dxu.1	-	7	1722	c.1184G>C	c.(1183-1185)AGC>ACC	p.S395T	EYS_uc003peq.2_Missense_Mutation_p.S395T|EYS_uc003per.1_Missense_Mutation_p.S395T	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	395	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						TTAATTATACCTGCAAGGATA	0.274			NA											3	18					0	0	0.004672	0	0
IMPG1	3617	broad.mit.edu	37	6	76715160	76715160	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:76715160A>G	uc003pik.1	-	10	1109	c.979T>C	c.(979-981)TCC>CCC	p.S327P		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	327	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATTTTGTTGGAATCAAAAGAC	0.448	Pancreas(37;839 1141 2599 26037)		NA											4	68					0	0	0.000248	0	0
SNAP91	9892	broad.mit.edu	37	6	84375238	84375238	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:84375238C>T	uc011dze.1	-	3	510	c.193G>A	c.(193-195)GAG>AAG	p.E65K	SNAP91_uc003pkb.2_Missense_Mutation_p.E30K|SNAP91_uc003pkc.2_Missense_Mutation_p.E65K|SNAP91_uc003pkd.2_Missense_Mutation_p.E65K|SNAP91_uc003pka.2_Missense_Mutation_p.E65K|SNAP91_uc011dzf.1_Intron	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	65	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTTGCCCGCTCAAAGAGAGTG	0.383			NA											26	140					0	0	0.00333	0	0
GJA10	84694	broad.mit.edu	37	6	90605647	90605647	+	Missense_Mutation	SNP	C	C	G	rs150458704		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:90605647C>G	uc011eaa.1	+	1	1460	c.1460C>G	c.(1459-1461)CCG>CGG	p.P487R		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	487	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAGCCCTACCGATCATGGAA	0.473			NA											35	96					0	0	0.005524	0	0
RFX6	222546	broad.mit.edu	37	6	117232175	117232175	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:117232175T>A	uc003pxm.2	+	7	813	c.750T>A	c.(748-750)CTT>CTA	p.L250L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	250					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						CTCAACACCTTGTATACCAAG	0.373			NA											32	50					0	0	0.004878	0	0
EYA4	2070	broad.mit.edu	37	6	133827275	133827275	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:133827275G>T	uc003qec.3	+	14	1681	c.1223G>T	c.(1222-1224)CGC>CTC	p.R408L	EYA4_uc011ecq.1_Missense_Mutation_p.R354L|EYA4_uc011ecr.1_Missense_Mutation_p.R360L|EYA4_uc003qed.3_Missense_Mutation_p.R408L|EYA4_uc003qee.3_Missense_Mutation_p.R385L|EYA4_uc011ecs.1_Missense_Mutation_p.R414L|uc003qef.1_RNA|uc003qeg.1_RNA	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	408					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTTGGACTCCGCATGGAAGAA	0.328	Melanoma(57;398 1237 3528 4702 7415)		NA											6	52					8.12818e-05	9.57097e-05	0.001984	1	0
LATS1	9113	broad.mit.edu	37	6	150004837	150004837	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:150004837T>C	uc003qmu.1	-	4	1936	c.1388A>G	c.(1387-1389)AAT>AGT	p.N463S	LATS1_uc010kif.1_Missense_Mutation_p.N358S|LATS1_uc003qmv.1_Missense_Mutation_p.N463S|LATS1_uc003qmw.2_Missense_Mutation_p.N463S|LATS1_uc010kig.1_Missense_Mutation_p.N358S	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	463					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATTAAAAGAATTTGACCTCAC	0.453			NA											78	114					0	0	0.00361	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668324	160668324	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:160668324T>A	uc003qtf.2	-	5	1019	c.849A>T	c.(847-849)ATA>ATT	p.I283I	SLC22A2_uc003qte.1_Silent_p.I283I	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	283	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAGACTCAGGTATGCACCTAG	0.448			NA											6	61					0	0	0.001168	0	0
C6orf118	168090	broad.mit.edu	37	6	165715399	165715399	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:165715399G>T	uc003qum.3	-	2	448	c.412C>A	c.(412-414)CTT>ATT	p.L138I	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	138											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTGTGGGAAAGAGAGGCCTGG	0.617			NA											6	135					1.06961e-07	1.40518e-07	0.00308	1	0
GPR31	2853	broad.mit.edu	37	6	167570401	167570401	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:167570401C>G	uc011egq.1	-	1	919	c.919G>C	c.(919-921)GCA>CCA	p.A307P		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	307	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGGCTCTGCTGCCTGCCCT	0.557			NA											4	48					0	0	0.000248	0	0
TNRC18	84629	broad.mit.edu	37	7	5410791	5410791	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:5410791C>A	uc003soi.3	-	11	3783	c.3434G>T	c.(3433-3435)CGG>CTG	p.R1145L		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1145	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGGCCCTCCCGCAGCGGCTC	0.687			NA											15	15					6.31663e-08	8.36391e-08	0.003163	1	0
POLD2	5425	broad.mit.edu	37	7	44156578	44156578	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:44156578G>A	uc010kxz.2	-	7	1268	c.618C>T	c.(616-618)GGC>GGT	p.G206G	POLD2_uc003tke.3_Silent_p.G206G|POLD2_uc010kya.2_Silent_p.G206G|POLD2_uc003tkf.3_Silent_p.G206G	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	206					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						CGCCTCCACCGCCACCCAGGC	0.692			NA											20	20					0	0	0.001523	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956212	45956212	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:45956212C>T	uc003tns.2	-	3	817	c.685G>A	c.(685-687)GTG>ATG	p.V229M	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.V235M|IGFBP3_uc003tnt.2_Missense_Mutation_p.V132M	NM_000598	NP_000589	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	229	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)|lung(1)	3					Mecasermin(DB01277)	GGACTCAGCACATTGAGGAAC	0.478			NA											57	66					0	0	0.00361	0	0
CDC14C	168448	broad.mit.edu	37	7	48964302	48964302	+	Silent	SNP	C	C	A	rs401292	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:48964302C>A	uc010kyv.1	+	1	146	c.34C>A	c.(34-36)CGG>AGG	p.R12R		NR_003595				SubName: Full=Putative uncharacterized protein MGC26484;												0						CCCGCGCCGCCGGGACCCCCA	0.612			NA											31	28					1.61788e-16	2.62465e-16	0.002445	1	0
GBAS	2631	broad.mit.edu	37	7	56062641	56062641	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:56062641C>G	uc003tre.1	+	8	680	c.672C>G	c.(670-672)TTC>TTG	p.F224L	GBAS_uc003trf.1_Missense_Mutation_p.F185L	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	224						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGGATTCTTCTCTCAGATTG	0.438			NA											4	99					0	0	0.000602	0	0
SBDS	51119	broad.mit.edu	37	7	66456250	66456250	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:66456250C>G	uc003tvm.1	-	4	682	c.498G>C	c.(496-498)AAG>AAC	p.K166N		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	166					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						CACGTTCTATCTTCATTTTCT	0.373			NA	Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				4	30					0	0	0.000602	0	0
FKBP6	8468	broad.mit.edu	37	7	72744232	72744232	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:72744232C>A	uc003tya.2	+	4	477	c.345C>A	c.(343-345)AAC>AAA	p.N115K	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.N110K|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	115	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCAAACCGAACTACGCCTATG	0.537			NA											52	34					1.81118e-26	3.22737e-26	0.00361	1	0
TECPR1	25851	broad.mit.edu	37	7	97870247	97870247	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:97870247G>A	uc003upg.2	-	8	1054	c.849C>T	c.(847-849)ATC>ATT	p.I283I	TECPR1_uc003uph.1_Silent_p.I213I	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	283	TECPR 2.					integral to membrane	protein binding			pancreas(1)	1						GAGGCTCCACGATGGACCAGG	0.582			NA											9	4					0	0	0.006214	0	0
MUC17	140453	broad.mit.edu	37	7	100696667	100696667	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:100696667G>C	uc003uxp.1	+	11	13366	c.13313G>C	c.(13312-13314)AGT>ACT	p.S4438T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4438	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGAGGACAGTGGACCAGCT	0.453			NA											24	13					0	0	0.003954	0	0
FBXL13	222235	broad.mit.edu	37	7	102517935	102517935	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:102517935A>G	uc003vaq.2	-	16	2041	c.1614T>C	c.(1612-1614)TCT>TCC	p.S538S	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.S538S|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.S538S	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	538	LRR 12.										0						TGTCTGTTCCAGAGAGATCTA	0.284			NA											23	26					0	0	0.00333	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423683	107423683	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:107423683G>T	uc003ver.2	-	9	1297	c.1086C>A	c.(1084-1086)TCC>TCA	p.S362S	SLC26A3_uc003ves.2_Silent_p.S327S	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	362	Helical; (Potential).				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						CGTATTTGAGGGAATAGACGC	0.423			NA											29	35					1.32181e-22	2.2884e-22	0.007291	1	0
IMMP2L	83943	broad.mit.edu	37	7	111127317	111127317	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:111127317G>T	uc003vfq.1	-	3	659	c.216C>A	c.(214-216)CAC>CAA	p.H72Q	IMMP2L_uc010ljr.1_Missense_Mutation_p.H72Q|IMMP2L_uc003vfr.2_Missense_Mutation_p.H72Q	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane protease-like	72					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TGTCACCACGGTGTACTTCAA	0.368			NA											38	46					2.47872e-24	4.38191e-24	0.002522	1	0
TMEM140	55281	broad.mit.edu	37	7	134849484	134849484	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:134849484C>A	uc003vsi.2	+	2	572	c.291C>A	c.(289-291)GCC>GCA	p.A97A	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	97	Helical; (Potential).					integral to membrane				large_intestine(1)	1						CCCTCTTTGCCCCCCAGCCTC	0.677			NA											16	54					1.52009e-12	2.28355e-12	0.003163	1	0
ZNF746	155061	broad.mit.edu	37	7	149191310	149191310	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:149191310C>T	uc003wfw.2	-	2	580	c.309G>A	c.(307-309)AAG>AAA	p.K103K	ZNF746_uc010lpi.2_Silent_p.K103K	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	103	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGACTCCCCCTTGCTGCCCG	0.652			NA											94	87					0	0	0.00361	0	0
SSPO	23145	broad.mit.edu	37	7	149515769	149515769	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:149515769C>T	uc010lpk.2	+	84	11670	c.11670C>T	c.(11668-11670)TCC>TCT	p.S3890S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3890	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCCTGGTCCCCCTGCTCCA	0.682			NA											14	39					0	0	0.003163	0	0
GBX1	2636	broad.mit.edu	37	7	150846032	150846032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:150846032C>G	uc011kvg.1	-	2	968	c.736G>C	c.(736-738)GAG>CAG	p.E246Q		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	246						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGCCCCCTCCTCAGCTCCA	0.617			NA											31	158					0	0	0.002096	0	0
MLL3	58508	broad.mit.edu	37	7	151878057	151878057	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:151878057A>G	uc003wla.2	-	36	7107	c.6888T>C	c.(6886-6888)CGT>CGC	p.R2296R	MLL3_uc003wkz.2_Silent_p.R1357R|MLL3_uc003wky.2_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2296					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATAGGGATCACGGGCAGCAG	0.522	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								3	78					0	0	0.004672	0	0
C8orf79	57604	broad.mit.edu	37	8	12879006	12879006	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:12879006A>G	uc010lsq.2	+	5	1310	c.818A>G	c.(817-819)AAC>AGC	p.N273S	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.N186S|C8orf79_uc010lsr.2_Missense_Mutation_p.N147S	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	273							methyltransferase activity				0						CCCTTGAAAAACACAGAAGTT	0.418			NA											19	52					0	0	0.008871	0	0
SGCZ	137868	broad.mit.edu	37	8	13959971	13959971	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:13959971G>A	uc003wwq.2	-	7	1318	c.658C>T	c.(658-660)CCC>TCC	p.P220S	SGCZ_uc010lss.2_Missense_Mutation_p.P173S	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	207	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACCCCACGGGGAGCTTCCATG	0.448			NA											5	34					0	0	0.000602	0	0
WRN	7486	broad.mit.edu	37	8	30973963	30973963	+	Silent	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:30973963A>T	uc003xio.3	+	20	3155	c.2367A>T	c.(2365-2367)CTA>CTT	p.L789L	WRN_uc010lvk.2_Silent_p.L256L	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	789	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AACTGAATCTATCCTGTGGAA	0.388	Ovarian(18;161 598 2706 14834 27543)		NA	Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				13	42					0	0	0.003163	0	0
PXDNL	137902	broad.mit.edu	37	8	52387588	52387588	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:52387588G>T	uc003xqu.3	-	7	739	c.638C>A	c.(637-639)CCC>CAC	p.P213H		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	213	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAGTCTCCTGGGATATTCGCA	0.498			NA											6	13					0.00116845	0.00132463	0.001168	1	0
NPBWR1	2831	broad.mit.edu	37	8	53853136	53853136	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:53853136T>C	uc011ldu.1	+	1	669	c.669T>C	c.(667-669)TAT>TAC	p.Y223Y		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	223	Helical; Name=5; (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GTGTCCTCTATACCACCCTGC	0.662			NA											7	13					0	0	0.001984	0	0
ZFHX4	79776	broad.mit.edu	37	8	77762527	77762527	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:77762527C>G	uc003yav.2	+	9	4145	c.3758C>G	c.(3757-3759)GCA>GGA	p.A1253G	ZFHX4_uc003yau.1_Missense_Mutation_p.A1298G|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1253G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1253						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)			CTACTGCCAGCAGCTGCCTCT	0.478			NA								HNSCC(33;0.089)			3	17					0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776202	77776202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:77776202G>A	uc003yav.2	+	11	10504	c.10117G>A	c.(10117-10119)GCA>ACA	p.A3373T		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3369	C2H2-type 19; degenerate.					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)			TGAAGACGCCGCAGTAAATCA	0.423			NA								HNSCC(33;0.089)			7	23					0	0	0.001984	0	0
SLC10A5	347051	broad.mit.edu	37	8	82607015	82607015	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:82607015C>G	uc011lfs.1	-	1	193	c.193G>C	c.(193-195)GAA>CAA	p.E65Q		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	65	Extracellular (Potential).					integral to membrane	bile acid:sodium symporter activity				0						TTAGGATCTTCTATTTTCACA	0.368			NA											28	53					0	0	0.005443	0	0
SPAG1	6674	broad.mit.edu	37	8	101243392	101243392	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:101243392A>G	uc003yjh.1	+	15	1950	c.1864A>G	c.(1864-1866)ACA>GCA	p.T622A	SPAG1_uc003yji.1_Missense_Mutation_p.T622A	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	622					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGATGAAAAAACATTTAAAGC	0.303			NA											19	47					0	0	0.008871	0	0
SNX31	169166	broad.mit.edu	37	8	101661539	101661539	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:101661539C>T	uc003yjr.2	-	2	255	c.104G>A	c.(103-105)AGG>AAG	p.R35K		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	35	PX.				cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GTAGCGCACCCTGCAGAAGAG	0.607			NA											9	30					0	0	0.004482	0	0
TM7SF4	81501	broad.mit.edu	37	8	105361787	105361787	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:105361787T>A	uc003ylx.1	+	2	1056	c.1007T>A	c.(1006-1008)GTT>GAT	p.V336D		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	336					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGGTTTGAGGTTCACTTGAAA	0.358			NA											36	149					0	0	0.005524	0	0
DPYS	1807	broad.mit.edu	37	8	105405054	105405054	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:105405054T>A	uc003yly.3	-	8	1530	c.1401A>T	c.(1399-1401)CCA>CCT	p.P467P	DPYS_uc010mcf.1_Silent_p.P37P	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	467					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTCAGCAAATGGTTTTCGAG	0.488			NA											34	177					0	0	0.003271	0	0
CSMD3	114788	broad.mit.edu	37	8	113418829	113418829	+	Silent	SNP	A	A	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:113418829A>G	uc003ynu.2	-	35	5892	c.5733T>C	c.(5731-5733)CAT>CAC	p.H1911H	CSMD3_uc003yns.2_Silent_p.H1113H|CSMD3_uc003ynt.2_Silent_p.H1871H|CSMD3_uc011lhx.1_Silent_p.H1807H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1911	Sushi 10.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTATGGATCCATGGAGAATAT	0.398			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	45					0	0	0.001168	0	0
DEPDC6	64798	broad.mit.edu	37	8	121021282	121021283	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:121021282_121021283GG>TT	uc003yow.3	+	8	1198_1199	c.1011_1012GG>TT	c.(1009-1014)GCGGTT>GCTTTT	p.V338F	DEPDC6_uc011lid.1_Missense_Mutation_p.V237F	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	338	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGGTGACGCGGTTGGCTGGGG	0.545			NA											7	45					0	0	0.004672	0	0
ZHX2	22882	broad.mit.edu	37	8	123965171	123965171	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:123965171A>C	uc003ypk.1	+	3	1988	c.1421A>C	c.(1420-1422)GAG>GCG	p.E474A		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	474	Required for interaction with NFYA.|Homeobox 2.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGGCTCATCGAGGTGACTGGC	0.562	Esophageal Squamous(94;1056 1388 11767 13799 49639)		NA											4	44					0	0	0.000248	0	0
FOXD4	2298	broad.mit.edu	37	9	118065	118065	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:118065C>A	uc003zfz.2	-	1	353	c.55G>T	c.(55-57)GAC>TAC	p.D19Y		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	19					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	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)		CCATCGGAGTCCCGGAGGCTG	0.627			NA											37	61					8.48111e-28	1.52751e-27	0.00361	1	0
FAM154A	158297	broad.mit.edu	37	9	18950780	18950780	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:18950780G>A	uc003zni.1	-	2	472	c.194C>T	c.(193-195)CCA>CTA	p.P65L	FAM154A_uc010mip.1_5'UTR	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	65										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		GCCTTCCATTGGTATAGGCCC	0.448			NA											17	107					0	0	0.008871	0	0
TAF1L	138474	broad.mit.edu	37	9	32635171	32635171	+	Nonsense_Mutation	SNP	G	G	T	rs139816850	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:32635171G>T	uc003zrg.1	-	1	497	c.407C>A	c.(406-408)TCG>TAG	p.S136*	uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	136					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCATAATCCGAGTGGTAAAG	0.478			NA											40	106					7.63091e-17	1.25005e-16	0.007835	1	0
LOC442421	442421	broad.mit.edu	37	9	66499759	66499759	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:66499759G>C	uc004aee.1	+	1	569	c.569G>C	c.(568-570)GGC>GCC	p.G190A	LOC442421_uc004aed.1_RNA					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).												0						GGGGTGGTGGGCAACCTGGTG	0.592			NA											7	91					0	0	0.00308	0	0
FLJ46321	389763	broad.mit.edu	37	9	84608884	84608884	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:84608884G>A	uc004amn.2	+	4	3546	c.3499G>A	c.(3499-3501)GGA>AGA	p.G1167R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1167						integral to membrane					0						CAGCAAGTCAGGAAGCTGCTC	0.413			NA											7	28					0	0	0.001984	0	0
TMEM38B	55151	broad.mit.edu	37	9	108483876	108483876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:108483876G>T	uc004bcu.1	+	3	445	c.328G>T	c.(328-330)GTT>TTT	p.V110F	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	110	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						ATATCTACCTGTTCAACTACT	0.363			NA											10	29					0.00010058	0.000118226	0.001368	1	0
SVEP1	79987	broad.mit.edu	37	9	113173854	113173854	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:113173854T>C	uc010mtz.2	-	37	6474	c.6137A>G	c.(6136-6138)TAC>TGC	p.Y2046C	SVEP1_uc010mty.2_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2046	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATCAGAGCAGTAGTAGAATGC	0.552			NA											11	23					0	0	0.000978	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253683	123253683	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:123253683T>A	uc004bkf.2	-	13	1565	c.1384A>T	c.(1384-1386)AAG>TAG	p.K462*	CDK5RAP2_uc004bkg.2_Nonsense_Mutation_p.K462*|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Nonsense_Mutation_p.K462*|CDK5RAP2_uc004bki.2_Nonsense_Mutation_p.K261*	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	462					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						AGAAGACTCTTGTAACGATTT	0.343			NA											12	38					0	0	0.000978	0	0
RC3H2	54542	broad.mit.edu	37	9	125620205	125620205	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:125620205C>A	uc010mwc.1	-	13	2692	c.2451G>T	c.(2449-2451)GCG>GCT	p.A817A	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Silent_p.A817A|RC3H2_uc004bne.3_Silent_p.A817A	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	817						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						TTCTTACATCCGCACGAAAGT	0.418			NA											18	34					8.34094e-07	1.05442e-06	0.008871	1	0
NUP188	23511	broad.mit.edu	37	9	131750354	131750354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:131750354C>T	uc004bws.1	+	24	2444	c.2422C>T	c.(2422-2424)CAG>TAG	p.Q808*	NUP188_uc004bwu.2_Nonsense_Mutation_p.Q151*	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	808					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GGGGCAGGGCCAGCTGCTGAT	0.502			NA											37	138					0	0	0.005524	0	0
TOR1B	27348	broad.mit.edu	37	9	132566477	132566477	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:132566477G>T	uc004byk.1	+	2	385	c.325G>T	c.(325-327)GGC>TGC	p.G109C		NM_014506	NP_055321	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B) precursor	109	ATP (Potential).				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding				0		Ovarian(14;0.0586)				TTCCTTACACGGCTGGGCTGG	0.468			NA											20	77					1.56452e-12	2.34504e-12	0.007413	1	0
TTF1	7270	broad.mit.edu	37	9	135267523	135267523	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:135267523C>A	uc004cbl.2	-	6	1979	c.1927G>T	c.(1927-1929)GGT>TGT	p.G643C	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.G128C	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	643	Myb-like 1.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCATCTCACCAATCGTCTTC	0.488			NA											15	23					1.49906e-05	1.81622e-05	0.00245	1	0
KCNT1	57582	broad.mit.edu	37	9	138656985	138656985	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:138656985A>T	uc011mdq.1	+	12	1218	c.1144A>T	c.(1144-1146)AAG>TAG	p.K382*	KCNT1_uc011mdr.1_Nonsense_Mutation_p.K209*|KCNT1_uc010nbf.2_Nonsense_Mutation_p.K337*|KCNT1_uc004cgo.1_Nonsense_Mutation_p.K131*	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	382						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGCTCCCTCAAGATCGACCT	0.642			NA											25	79					0	0	0.00278	0	0
TRAF2	7186	broad.mit.edu	37	9	139814764	139814764	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:139814764G>C	uc010nbu.2	+	9	930	c.757G>C	c.(757-759)GAG>CAG	p.E253Q	TRAF2_uc004cjv.2_Missense_Mutation_p.E253Q|TRAF2_uc011mek.1_Missense_Mutation_p.E242Q|TRAF2_uc010nbw.2_Missense_Mutation_p.E228Q	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	253				Missing (in Ref. 2; BAB70792).	activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTCGGTGCTGGAGGCAAAGCC	0.622			NA											10	34					0	0	0.006214	0	0
GRIN1	2902	broad.mit.edu	37	9	140036576	140036576	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:140036576C>G	uc004clk.2	+	2	700	c.370C>G	c.(370-372)CGC>GGC	p.R124G	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.R121G|GRIN1_uc004cll.2_Missense_Mutation_p.R124G|GRIN1_uc004clm.2_Missense_Mutation_p.R124G|GRIN1_uc004cln.2_Missense_Mutation_p.R121G|GRIN1_uc004clo.2_Missense_Mutation_p.R121G	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	124	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCTGACCACCCGCATGTCCAT	0.652	NSCLC(113;717 1653 2089 20474 37618)		NA											37	81					0	0	0.004878	0	0
GRIN1	2902	broad.mit.edu	37	9	140036578	140036578	+	Silent	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:140036578C>G	uc004clk.2	+	2	702	c.372C>G	c.(370-372)CGC>CGG	p.R124R	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Silent_p.R121R|GRIN1_uc004cll.2_Silent_p.R124R|GRIN1_uc004clm.2_Silent_p.R124R|GRIN1_uc004cln.2_Silent_p.R121R|GRIN1_uc004clo.2_Silent_p.R121R	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	124	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGACCACCCGCATGTCCATCT	0.647	NSCLC(113;717 1653 2089 20474 37618)		NA											35	76					0	0	0.003755	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356475	140356475	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:140356475C>A	uc004cnf.2	-	31	3926	c.3589G>T	c.(3589-3591)GGG>TGG	p.G1197W	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.G444W|PNPLA7_uc004cne.1_Missense_Mutation_p.G463W|PNPLA7_uc011mfa.1_Missense_Mutation_p.G605W|PNPLA7_uc010ncj.1_Missense_Mutation_p.G1222W|NELF_uc004cna.2_5'Flank|NELF_uc011mez.1_5'Flank|NELF_uc004cmz.2_5'Flank|NELF_uc004cnc.2_5'Flank|NELF_uc004cnb.2_5'Flank	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1197					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ACCGTGCGCCCGTGCTGGTAG	0.672			NA											7	10					5.18039e-06	6.4038e-06	0.00308	1	0
CACNA1B	774	broad.mit.edu	37	9	140878624	140878624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr9:140878624C>A	uc004cog.2	+	13	1836	c.1691C>A	c.(1690-1692)GCG>GAG	p.A564E	CACNA1B_uc011mfd.1_Missense_Mutation_p.A95E	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	564	Extracellular (Potential).|II.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGGTCTGGGCGGCCATCAAG	0.602			NA											5	5					0.00116845	0.00132463	0.001168	1	0
P2RY8	286530	broad.mit.edu	37	X	1584790	1584790	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:1584790A>T	uc004cpz.2	-	2	910	c.662T>A	c.(661-663)TTG>TAG	p.L221*		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	221	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCGTGCGCAACAGCTTGAG	0.647			NA	T	CRLF2	B-ALL|Downs associated ALL								12	26					0	0	0.000978	0	0
MXRA5	25878	broad.mit.edu	37	X	3229500	3229500	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:3229500C>A	uc004crg.3	-	7	6901	c.6744G>T	c.(6742-6744)AAG>AAT	p.K2248N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2248	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTTCTCCTCCTTGTGTTCAA	0.542			NA											39	74					1.7489e-18	2.92211e-18	0.002852	1	0
VCX3B	425054	broad.mit.edu	37	X	8434331	8434331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:8434331G>T	uc010ndo.2	+	4	865	c.558G>T	c.(556-558)CAG>CAT	p.Q186H	VCX3B_uc004csd.1_Missense_Mutation_p.Q166H	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	186	9.|11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus					0						CACTGAGTCAGGAGAGCCAGG	0.562			NA											23	295					2.65835e-16	4.29179e-16	0.007291	1	0
TLR7	51284	broad.mit.edu	37	X	12904321	12904321	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:12904321C>G	uc004cvc.2	+	3	833	c.694C>G	c.(694-696)CTC>GTC	p.L232V		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	232	Extracellular (Potential).|LRR 8.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	AGAACTATATCTCTACAACAA	0.358			NA											12	50					0	0	0.001368	0	0
SCML1	6322	broad.mit.edu	37	X	17768022	17768022	+	Silent	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:17768022T>C	uc004cyb.2	+	6	637	c.312T>C	c.(310-312)TAT>TAC	p.Y104Y	SCML1_uc004cyc.2_Silent_p.Y77Y|SCML1_uc004cyd.2_5'UTR|SCML1_uc004cye.2_5'UTR	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 isoform a	104					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)	3	Hepatocellular(33;0.183)					AGAAGCGATATGGATATAAAA	0.318			NA											53	81					0	0	0.00361	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19560137	19560137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:19560137C>A	uc004czm.2	-	16	2114	c.1798G>T	c.(1798-1800)GAG>TAG	p.E600*	SH3KBP1_uc011mje.1_Nonsense_Mutation_p.E339*|SH3KBP1_uc011mjf.1_Nonsense_Mutation_p.E362*|SH3KBP1_uc004czl.2_Nonsense_Mutation_p.E563*|SH3KBP1_uc010nfm.2_Nonsense_Mutation_p.E45*	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	600					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						GCCGCAGGCTCCATCTTTGGT	0.617			NA											15	127					3.35478e-16	5.40312e-16	0.003163	1	0
EIF2S3	1968	broad.mit.edu	37	X	24075597	24075597	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:24075597C>T	uc004dbc.2	+	3	214	c.193C>T	c.(193-195)CAT>TAT	p.H65Y		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	65						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1						TTCTGGAGTTCATACTGTCAG	0.348			NA											9	41					0	0	0.004482	0	0
POLA1	5422	broad.mit.edu	37	X	24745975	24745975	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:24745975G>T	uc004dbl.2	+	15	1613	c.1590G>T	c.(1588-1590)AAG>AAT	p.K530N	POLA1_uc004dbm.2_Missense_Mutation_p.K536N|POLA1_uc004dbn.2_Missense_Mutation_p.K394N	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	530					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGTAATTAAGGATGTCAGTC	0.408			NA											11	32					1.61879e-10	2.32246e-10	0.001368	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27765838	27765838	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:27765838C>A	uc011mjy.1	+	1	913	c.826C>A	c.(826-828)CAG>AAG	p.Q276K		NM_001136533	NP_001130005			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|pancreas(1)	2						TAATGTCTTCCAGGCCAAGTT	0.498			NA											10	14					1.76689e-08	2.39639e-08	0.006214	1	0
DMD	1756	broad.mit.edu	37	X	32407680	32407680	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:32407680G>A	uc004dda.1	-	32	4700	c.4456C>T	c.(4456-4458)CCT>TCT	p.P1486S	DMD_uc004dcw.2_Missense_Mutation_p.P142S|DMD_uc004dcx.2_Missense_Mutation_p.P145S|DMD_uc004dcz.2_Missense_Mutation_p.P1363S|DMD_uc004dcy.1_Missense_Mutation_p.P1482S|DMD_uc004ddb.1_Missense_Mutation_p.P1478S|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1486	Spectrin 10.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCAATGCAGGCAAGTGCATC	0.413			NA											23	54					0	0	0.00278	0	0
CXorf22	170063	broad.mit.edu	37	X	35969947	35969947	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:35969947A>T	uc004ddj.2	+	6	972	c.913A>T	c.(913-915)ATT>TTT	p.I305F	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	305										large_intestine(1)|lung(1)|ovary(1)	3						AAGAACAGATATTGCTTTAAA	0.284			NA											12	52					0	0	0.001368	0	0
MED14	9282	broad.mit.edu	37	X	40562805	40562805	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:40562805T>A	uc004dex.3	-	11	1442	c.1302A>T	c.(1300-1302)GCA>GCT	p.A434A		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	434	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						GAGCTGGGAGTGCAGTCTCTA	0.338			NA											12	20					0	0	0.001368	0	0
SLC9A7	84679	broad.mit.edu	37	X	46508189	46508189	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:46508189G>T	uc004dgu.1	-	11	1399	c.1391C>A	c.(1390-1392)TCC>TAC	p.S464Y		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	464					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						GAGGAAGAAGGAGAGCGGGTA	0.463	Pancreas(118;454 1696 1930 13865 39976)		NA											28	46					9.80776e-20	1.65521e-19	0.00632	1	0
SLC9A7	84679	broad.mit.edu	37	X	46618330	46618330	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:46618330C>A	uc004dgu.1	-	1	143	c.135G>T	c.(133-135)GGG>GGT	p.G45G	SLC9A7_uc004dgv.1_Silent_p.G45G	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	45					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						CCGCCGCCGCCCCAGAGGAGG	0.587	Pancreas(118;454 1696 1930 13865 39976)		NA											10	13					9.31168e-06	1.13433e-05	0.001855	1	0
RBM10	8241	broad.mit.edu	37	X	47045727	47045727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:47045727G>T	uc004dhf.2	+	23	2987	c.2608G>T	c.(2608-2610)GGC>TGC	p.G870C	RBM10_uc004dhg.2_Missense_Mutation_p.G792C|RBM10_uc004dhh.2_Missense_Mutation_p.G869C|RBM10_uc010nhq.2_Missense_Mutation_p.G793C|RBM10_uc004dhi.2_Missense_Mutation_p.G935C	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	870	G-patch.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						GCAGGCCATGGGCTGGAAAGA	0.637	Melanoma(171;120 2705 19495 39241)		NA											6	7					2.0095e-06	2.51187e-06	0.001984	1	0
SYN1	6853	broad.mit.edu	37	X	47466576	47466576	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:47466576T>A	uc004die.2	-	2	528	c.399A>T	c.(397-399)AAA>AAT	p.K133N	SYN1_uc004did.2_Missense_Mutation_p.K133N	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	133	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						CATGGATCTTTTTCCCTTTGA	0.428			NA											16	28					0	0	0.00499	0	0
CCDC120	90060	broad.mit.edu	37	X	48920062	48920062	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:48920062G>C	uc010nik.2	+	4	620	c.113G>C	c.(112-114)CGG>CCG	p.R38P	CCDC120_uc011mmq.1_Missense_Mutation_p.R26P|CCDC120_uc004dmf.2_Missense_Mutation_p.R38P|CCDC120_uc010nil.2_Missense_Mutation_p.R38P|CCDC120_uc011mmr.1_Missense_Mutation_p.R38P|CCDC120_uc011mms.1_Missense_Mutation_p.R26P|CCDC120_uc004dmg.1_3'UTR	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	38							protein binding			pancreas(1)	1						CTGCTTGACCGGCAGCGGACC	0.652			NA											21	34					0	0	0.001523	0	0
WDR45	11152	broad.mit.edu	37	X	48933220	48933220	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:48933220G>C	uc004dmk.1	-	8	881	c.709C>G	c.(709-711)CCT>GCT	p.P237A	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.P135A|WDR45_uc004dmj.1_Missense_Mutation_p.P198A|WDR45_uc004dml.1_Missense_Mutation_p.P238A|WDR45_uc004dmm.1_Missense_Mutation_p.P202A|WDR45_uc010nim.1_Missense_Mutation_p.P237A|WDR45_uc004dmn.1_Missense_Mutation_p.P128A|WDR45_uc004dmo.1_Missense_Mutation_p.P260A|WDR45_uc004dmp.1_Missense_Mutation_p.P238A	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	237	WD 3.				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						AGGGTGGCAGGGTCAGTGCCT	0.557			NA											17	40					0	0	0.008871	0	0
CACNA1F	778	broad.mit.edu	37	X	49068426	49068426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:49068426C>A	uc004dnb.2	-	35	4127	c.4065G>T	c.(4063-4065)CAG>CAT	p.Q1355H	CACNA1F_uc010nip.2_Missense_Mutation_p.Q1344H	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1355	Extracellular (Potential).|IV.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	GTGTGCCATCCTGAAGAGCCA	0.517			NA											24	49					7.41945e-09	1.01865e-08	0.005443	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350926	50350926	+	Silent	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:50350926G>A	uc004dpe.2	-	6	3242	c.3216C>T	c.(3214-3216)GCC>GCT	p.A1072A	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1072					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GCTGCCCCCAGGCCCGGGTGC	0.617			NA											24	44					0	0	0.00333	0	0
HUWE1	10075	broad.mit.edu	37	X	53577916	53577916	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:53577916G>C	uc004dsp.2	-	65	9733	c.9331C>G	c.(9331-9333)CGT>GGT	p.R3111G	HUWE1_uc004dsn.2_Missense_Mutation_p.R1919G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3111					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						CCAAACAGACGCTCATGCATG	0.582			NA											6	60					0	0	0.001168	0	0
FGD1	2245	broad.mit.edu	37	X	54482964	54482964	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:54482964G>A	uc004dtg.2	-	9	2407	c.1673C>T	c.(1672-1674)TCG>TTG	p.S558L	FGD1_uc011moi.1_Missense_Mutation_p.S316L	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	558	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GGCAGCATTCGAGTGCTCTGC	0.597			NA											4	46					0	0	0.001168	0	0
FAM123B	139285	broad.mit.edu	37	X	63410715	63410715	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:63410715C>A	uc004dvo.2	-	2	2725	c.2452G>T	c.(2452-2454)GGG>TGG	p.G818W		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	818					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						TTGCCTTCCCCATCCCGTTCC	0.507			NA											12	38					9.05144e-12	1.33873e-11	0.001855	1	0
VSIG4	11326	broad.mit.edu	37	X	65242194	65242194	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:65242194C>T	uc004dwh.2	-	8	1238	c.1111G>A	c.(1111-1113)GCC>ACC	p.A371T	VSIG4_uc004dwi.2_Missense_Mutation_p.A277T|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	371	Cytoplasmic (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0						TTGATCTGGGCGATGATCTGG	0.517			NA											26	45					0	0	0.004656	0	0
HEPH	9843	broad.mit.edu	37	X	65427105	65427105	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:65427105G>C	uc011moz.1	+	14	2429	c.2369G>C	c.(2368-2370)AGG>ACG	p.R790T	HEPH_uc004dwn.2_Missense_Mutation_p.R790T|HEPH_uc004dwo.2_Missense_Mutation_p.R520T|HEPH_uc010nkr.2_Missense_Mutation_p.R598T|HEPH_uc011mpa.1_Missense_Mutation_p.R790T|HEPH_uc010nks.2_Missense_Mutation_p.R79T	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	787	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GCTGTATTCAGGGAATACACT	0.463			NA											22	51					0	0	0.002299	0	0
STARD8	9754	broad.mit.edu	37	X	67937571	67937571	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:67937571C>G	uc004dxa.2	+	5	947	c.575C>G	c.(574-576)GCC>GGC	p.A192G	STARD8_uc004dxb.2_Missense_Mutation_p.A272G|STARD8_uc004dxc.3_Missense_Mutation_p.A192G	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						GGCAGTGGTGCCAATACTCGG	0.622			NA											27	58					0	0	0.00632	0	0
FOXO4	4303	broad.mit.edu	37	X	70321242	70321243	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:70321242_70321243CC>AA	uc004dys.1	+	2	1515_1516	c.1162_1163CC>AA	c.(1162-1164)CCC>AAC	p.P388N	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Missense_Mutation_p.P333N	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	388					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					CCAGGTAGATCCCATTCTGTCC	0.634			NA											21	67					0	0	0.004672	0	0
MED12	9968	broad.mit.edu	37	X	70345560	70345560	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:70345560T>G	uc004dyy.2	+	17	2618	c.2419T>G	c.(2419-2421)TTA>GTA	p.L807V	MED12_uc011mpq.1_Missense_Mutation_p.L807V|MED12_uc004dyz.2_Missense_Mutation_p.L807V|MED12_uc004dza.2_Missense_Mutation_p.L654V	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	807					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CCTGACATTCTTAGGTACCTC	0.527			NA											14	68					0	0	0.004007	0	0
CDX4	1046	broad.mit.edu	37	X	72667506	72667506	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:72667506G>T	uc011mqk.1	+	1	417	c.417G>T	c.(415-417)ACG>ACT	p.T139T		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					TTGTCCCGACGGACGCAGGCG	0.657			NA											15	29					1.3612e-06	1.71108e-06	0.003163	1	0
LPAR4	2846	broad.mit.edu	37	X	78010848	78010848	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:78010848G>A	uc010nme.2	+	2	887	c.482G>A	c.(481-483)GGT>GAT	p.G161D		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	161	Helical; Name=4; (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						GTGTGTGCTGGTGTCTGGATC	0.458			NA											40	93					0	0	0.005524	0	0
KLHL4	56062	broad.mit.edu	37	X	86872999	86872999	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:86872999G>T	uc004efb.2	+	4	974	c.792G>T	c.(790-792)CTG>CTT	p.L264L	KLHL4_uc004efa.2_Silent_p.L264L	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	264						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TTCTGCAGCTGACTCAGGTCA	0.418			NA											16	52					0.00074312	0.000848195	0.006122	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132041	91132041	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:91132041G>A	uc004efk.1	+	2	1647	c.802G>A	c.(802-804)GTG>ATG	p.V268M	PCDH11X_uc004efl.1_Missense_Mutation_p.V268M|PCDH11X_uc004efo.1_Missense_Mutation_p.V268M|PCDH11X_uc010nmv.1_Missense_Mutation_p.V268M|PCDH11X_uc004efm.1_Missense_Mutation_p.V268M|PCDH11X_uc004efn.1_Missense_Mutation_p.V268M|PCDH11X_uc004efh.1_Missense_Mutation_p.V268M|PCDH11X_uc004efj.1_Missense_Mutation_p.V268M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	268	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						AGGCACTTCAGTGACACAGCT	0.428	NSCLC(38;925 1092 2571 38200 45895)		NA											28	55					0	0	0.00361	0	0
CSTF2	1478	broad.mit.edu	37	X	100078902	100078902	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:100078902G>C	uc004egh.2	+	5	530	c.472G>C	c.(472-474)GCA>CCA	p.A158P	CSTF2_uc010nnd.2_Missense_Mutation_p.A158P|CSTF2_uc004egi.2_Missense_Mutation_p.A158P	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	158	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						TCCCCAGGAGGCACGGAACAT	0.458			NA											36	101					0	0	0.003755	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912052	101912052	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:101912052C>G	uc004ejj.3	+	5	4012	c.3211C>G	c.(3211-3213)CCG>GCG	p.P1071A	GPRASP1_uc004eji.3_Missense_Mutation_p.P1071A|GPRASP1_uc010nod.2_Missense_Mutation_p.P1071A	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1071	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CTTTAGATTTCCGAAAGAGGC	0.512			NA											104	189					0	0	0.00361	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970102	101970102	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:101970102C>A	uc004ejk.2	+	4	1639	c.305C>A	c.(304-306)GCC>GAC	p.A102D	GPRASP2_uc004ejl.2_Missense_Mutation_p.A102D|GPRASP2_uc004ejm.2_Missense_Mutation_p.A102D|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	102						cytoplasm	protein binding			ovary(1)	1						AAAACCGATGCCAGGGCAGTA	0.577			NA											62	166					8.52622e-23	1.48378e-22	0.00361	1	0
BHLHB9	80823	broad.mit.edu	37	X	102005196	102005197	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:102005196_102005197GG>TT	uc010nog.2	+	4	1844_1845	c.1273_1274GG>TT	c.(1273-1275)GGA>TTA	p.G425L	BHLHB9_uc011mrq.1_Missense_Mutation_p.G425L|BHLHB9_uc011mrr.1_Missense_Mutation_p.G425L|BHLHB9_uc011mrs.1_Missense_Mutation_p.G425L|BHLHB9_uc011mrt.1_Missense_Mutation_p.G425L|BHLHB9_uc004ejo.2_Missense_Mutation_p.G425L|BHLHB9_uc011mru.1_Missense_Mutation_p.G425L|BHLHB9_uc011mrv.1_Missense_Mutation_p.G425L	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	425						cytoplasm|nucleus	binding			ovary(2)	2						ACAGCAATCTGGATTAAAGATA	0.386			NA											21	78					0	0	0.004672	0	0
FAM199X	139231	broad.mit.edu	37	X	103431193	103431193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:103431193G>T	uc004elw.2	+	4	786	c.620G>T	c.(619-621)CGG>CTG	p.R207L	FAM199X_uc004elx.2_Missense_Mutation_p.R24L	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	207										ovary(1)	1						ATGGGTCTTCGGGAGCAACTT	0.353			NA											33	59					3.86903e-22	6.61288e-22	0.002836	1	0
RGAG1	57529	broad.mit.edu	37	X	109695043	109695043	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:109695043G>T	uc004eor.1	+	3	1444	c.1198G>T	c.(1198-1200)GCA>TCA	p.A400S	RGAG1_uc011msr.1_Missense_Mutation_p.A400S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	400										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GGTGATGTCTGCACCACCAGT	0.512			NA											126	428					2.77834e-61	5.21426e-61	0.00361	1	0
CAPN6	827	broad.mit.edu	37	X	110494310	110494310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:110494310G>T	uc004epc.1	-	8	1161	c.993C>A	c.(991-993)TGC>TGA	p.C331*	CAPN6_uc011msu.1_Nonsense_Mutation_p.C76*	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	331	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						GAAAGTTGCGGCAAAAGTCCT	0.438			NA											222	395					1.11227e-129	2.09332e-129	0.00361	1	0
SLC6A14	11254	broad.mit.edu	37	X	115572134	115572134	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:115572134G>T	uc004eqi.2	+	3	319	c.215G>T	c.(214-216)GGC>GTC	p.G72V	SLC6A14_uc011mtm.1_RNA	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	72	Helical; Name=2; (Potential).				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)	CCTTTTTTAGGCGCCTTCTTG	0.348			NA											90	316					5.01286e-43	9.32948e-43	0.00361	1	0
BCORL1	63035	broad.mit.edu	37	X	129148822	129148822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:129148822G>T	uc004evb.1	+	4	2188	c.2074G>T	c.(2074-2076)GAG>TAG	p.E692*	BCORL1_uc010nrd.1_Nonsense_Mutation_p.E594*	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.E692K(1)		ovary(4)|breast(2)|lung(1)	7						CATCTTTCCCGAGATCGTGAG	0.602			NA											34	68					4.11147e-13	6.23232e-13	0.003755	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135757176	135757176	+	Silent	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:135757176G>T	uc004fab.2	-	19	2487	c.2025C>A	c.(2023-2025)GGC>GGA	p.G675G	ARHGEF6_uc011mwd.1_Silent_p.G548G|ARHGEF6_uc011mwe.1_Silent_p.G521G	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	675					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					TTGAGCCATGGCCTTGTTGAA	0.423			NA											20	69					2.98393e-07	3.85953e-07	0.00278	1	0
ARHGEF6	9459	broad.mit.edu	37	X	135770121	135770121	+	Silent	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:135770121C>T	uc004fab.2	-	11	1677	c.1215G>A	c.(1213-1215)CTG>CTA	p.L405L	ARHGEF6_uc011mwd.1_Silent_p.L278L|ARHGEF6_uc011mwe.1_Silent_p.L251L	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	405	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					CGATTGCTTTCAGAATATCCT	0.249			NA											8	147					0	0	0.00308	0	0
RBMX	27316	broad.mit.edu	37	X	135956515	135956515	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:135956515C>A	uc004fae.1	-	9	1172	c.962G>T	c.(961-963)GGT>GTT	p.G321V	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.1_Missense_Mutation_p.G282V|RBMX_uc004faf.1_Missense_Mutation_p.G182V|RBMX_uc010nsf.1_Missense_Mutation_p.G282V|RBMX_uc004fag.1_Missense_Mutation_p.G193V	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	321						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TCGACTTCCACCATATCCGTC	0.532			NA											15	298					4.11147e-13	6.23232e-13	0.003755	1	0
CDR1	1038	broad.mit.edu	37	X	139866350	139866350	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:139866350G>T	uc004fbg.1	-	1	374	c.182C>A	c.(181-183)ACG>AAG	p.T61K	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	61	10.|23 X 6 AA approximate repeats.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGAAATCCGTGTCTTCCAG	0.438			NA											83	186					6.11987e-43	1.13582e-42	0.00361	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291725	141291725	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:141291725G>T	uc004fbu.1	-	3	397	c.49C>A	c.(49-51)CCG>ACG	p.P17T		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	17						cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGAGGTCGGGGAGTCGTTG	0.512			NA								HNSCC(46;0.14)			68	175					9.53695e-23	1.65538e-22	0.00361	1	0
IDS	3423	broad.mit.edu	37	X	148564645	148564645	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:148564645C>T	uc011mxe.1	-	9	1483	c.1285G>A	c.(1285-1287)GTT>ATT	p.V429I	IDS_uc011mxd.1_Missense_Mutation_p.V32I|IDS_uc011mxf.1_Missense_Mutation_p.V339I|IDS_uc011mxg.1_Missense_Mutation_p.V218I|IDS_uc010nsu.1_Missense_Mutation_p.V39I|IDS_uc004fcw.3_Missense_Mutation_p.V218I	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	429						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACAGCTCAACGTGAAATGAA	0.527			NA											52	90					0	0	0.00361	0	0
GPR50	9248	broad.mit.edu	37	X	150349293	150349293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:150349293C>A	uc010ntg.1	+	2	1373	c.1238C>A	c.(1237-1239)GCT>GAT	p.A413D	uc004fes.1_5'Flank	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	413	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CACTCCAAGGCTGCCTCTGGT	0.582			NA											125	354					2.91419e-48	5.43873e-48	0.00361	1	0
GPR50	9248	broad.mit.edu	37	X	150349627	150349627	+	Silent	SNP	C	C	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:150349627C>A	uc010ntg.1	+	2	1707	c.1572C>A	c.(1570-1572)GCC>GCA	p.A524A		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	524	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAGCCTGCCACTACCAGCC	0.612			NA											50	173					2.0833e-19	3.50706e-19	0.00361	1	0
PNCK	139728	broad.mit.edu	37	X	152937657	152937657	+	Splice_Site	SNP	T	T	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:152937657T>C	uc011myu.1	-	4	636	c.450_splice	c.e4-1	p.R150_splice	PNCK_uc011myt.1_Splice_Site_p.R84_splice|PNCK_uc004fia.2_Splice_Site_p.R79_splice|PNCK_uc004fhz.3_Splice_Site|PNCK_uc010nuh.2_Intron|PNCK_uc011myv.1_Splice_Site_p.R94_splice|PNCK_uc011myw.1_Splice_Site_p.R94_splice	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACTGATCCTGCAATGGCAA	0.617			NA											4	41					0	0	0.000248	0	0
L1CAM	3897	broad.mit.edu	37	X	153133826	153133826	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:153133826G>T	uc004fjb.2	-	13	1742	c.1634C>A	c.(1633-1635)CCC>CAC	p.P545H	L1CAM_uc004fjc.2_Missense_Mutation_p.P545H|L1CAM_uc010nuo.2_Missense_Mutation_p.P540H|L1CAM_uc004fjd.1_Missense_Mutation_p.P359H	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	545	Ig-like C2-type 6.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAAGGAGGGGTCAAAGGA	0.602			NA											58	228					1.95512e-22	3.37611e-22	0.00361	1	0
ARHGAP4	393	broad.mit.edu	37	X	153186130	153186130	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:153186130C>T	uc004fjk.1	-	5	673	c.631G>A	c.(631-633)GGG>AGG	p.G211R	ARHGAP4_uc011mzf.1_Missense_Mutation_p.G188R|ARHGAP4_uc004fjl.1_Missense_Mutation_p.G211R|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	211					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGGGCCCTGCCTCAGTG	0.692			NA											27	76					0	0	0.005443	0	0
CTAG2	30848	broad.mit.edu	37	X	153880627	153880627	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:153880627G>A	uc004fmi.1	-	2	601	c.548C>T	c.(547-549)CCA>CTA	p.P183L	CTAG2_uc004fmh.1_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	183	Poly-Pro.					centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCGGGCCTGGTGTACCAGG	0.607			NA											42	116					0	0	0.00874	0	0
DKC1	1736	broad.mit.edu	37	X	153993755	153993755	+	Nonsense_Mutation	SNP	G	G	T	rs121912302		TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:153993755G>T	uc004fmm.2	+	3	331	c.121G>T	c.(121-123)GAA>TAA	p.E41*	DKC1_uc010nvf.2_Nonsense_Mutation_p.E41*	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	41					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TATCAAACCTGAATCCAAAGT	0.388			NA							Congenital_Dyskeratosis				62	189					6.25564e-26	1.11175e-25	0.00361	1	0
F8	2157	broad.mit.edu	37	X	154197711	154197711	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:154197711G>T	uc004fmt.2	-	7	1075	c.904C>A	c.(904-906)CAG>AAG	p.Q302K		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	302	Plastocyanin-like 2.|F5/8 type A 1.		Missing (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGACGCCTGGCGATGGTTC	0.458			NA											51	129					1.21353e-23	2.12845e-23	0.00361	1	0
Unknown	0	broad.mit.edu	37	X	155252868	155252868	+	Silent	SNP	T	T	A			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:155252868T>A	uc004fnw.1	+	6	1571	c.912T>A	c.(910-912)CCT>CCA	p.P304P	uc004fnx.3_Silent_p.P90P	NM_182905	NP_878908			WAS protein family homolog 1												NA						TAGCCGAGCCTCTCAAGGCAG	0.632			NA											5	10					0	0	0.001168	0	0
VCAM1	7412	broad.mit.edu	37	1	101196902	101196903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:101196902_101196903insT	uc001dti.2	+	6	1473_1474	c.1353_1354insT	c.(1351-1356)GAGTTTfs	p.E451fs	VCAM1_uc001dtj.2_Frame_Shift_Ins_p.E359fs|VCAM1_uc010ouj.1_Frame_Shift_Ins_p.E389fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	451_452	Ig-like C2-type 5.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGAATATAGAGTTTTTGGAGGA	0.441			NA											11	87	---	---	---	---	NA	NA	NA	NA	NA
AKNAD1	254268	broad.mit.edu	37	1	109377596	109377596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr1:109377596delG	uc001dwa.2	-	8	1888	c.1619delC	c.(1618-1620)CCGfs	p.P540fs	AKNAD1_uc010ovb.1_Frame_Shift_Del_p.P247fs|AKNAD1_uc001dwb.2_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	540										ovary(3)	3						GGCCTCCTGCGGCCCTCCTTG	0.662			NA											13	46	---	---	---	---	NA	NA	NA	NA	NA
TRIM48	79097	broad.mit.edu	37	11	55032507	55032507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55032507delG	uc010rid.1	+	2	262	c.176delG	c.(175-177)TGGfs	p.W59fs		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	43	RING-type.					intracellular	zinc ion binding				0						TACCTCAACTGGCAAGACATC	0.463			NA											53	122	---	---	---	---	NA	NA	NA	NA	NA
OR8K5	219453	broad.mit.edu	37	11	55927671	55927672	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:55927671_55927672insC	uc010rja.1	-	1	122_123	c.122_123insG	c.(121-123)GGCfs	p.G41fs		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	41	Helical; Name=1; (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)				TAGTTAGGTTGCCCACCACTGT	0.426			NA											16	83	---	---	---	---	NA	NA	NA	NA	NA
OR5T3	390154	broad.mit.edu	37	11	56019980	56019980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr11:56019980delG	uc010rjd.1	+	1	305	c.305delG	c.(304-306)TGCfs	p.C102fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	102	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTGGATGCTTGCTATTCTACA	0.373			NA											33	65	---	---	---	---	NA	NA	NA	NA	NA
ITGA2B	3674	broad.mit.edu	37	17	42462399	42462399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:42462399delC	uc002igt.1	-	7	748	c.716delG	c.(715-717)CGCfs	p.R239fs		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	239	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GATGCCTGGGCGGTAACTCGA	0.607			NA											37	109	---	---	---	---	NA	NA	NA	NA	NA
GPRC5C	55890	broad.mit.edu	37	17	72436961	72436961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr17:72436961delT	uc002jks.2	+	1	1085	c.1046delT	c.(1045-1047)GTTfs	p.V349fs	GPRC5C_uc002jkp.2_Frame_Shift_Del_p.V394fs|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Frame_Shift_Del_p.V361fs|GPRC5C_uc002jkt.2_Frame_Shift_Del_p.V349fs|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	349	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						GATGAGCCGGTTGCAGGTGGG	0.552			NA											11	48	---	---	---	---	NA	NA	NA	NA	NA
KCTD1	284252	broad.mit.edu	37	18	24039787	24039787	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr18:24039787delT	uc002kvw.2	-	4	972	c.412delA	c.(412-414)AGGfs	p.R138fs	KCTD1_uc010xbj.1_Frame_Shift_Del_p.R746fs|KCTD1_uc010xbk.1_Frame_Shift_Del_p.R138fs|KCTD1_uc002kvy.2_Frame_Shift_Del_p.R56fs	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	138					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TCACAGGGCCTTGAAAATCGA	0.468			NA											31	39	---	---	---	---	NA	NA	NA	NA	NA
HOXD12	3238	broad.mit.edu	37	2	176964687	176964689	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr2:176964687_176964689delCCA	uc010zev.1	+	1	158_160	c.158_160delCCA	c.(157-162)GCCACG>GCG	p.T54del	HOXD12_uc010zew.1_In_Frame_Del_p.T54del	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	54						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCCTGGGCCGCCACGCCCGCCTC	0.734			NA											14	39	---	---	---	---	NA	NA	NA	NA	NA
NPY2R	4887	broad.mit.edu	37	4	156135819	156135819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr4:156135819delG	uc003ioq.2	+	2	1223	c.728delG	c.(727-729)TGGfs	p.W243fs	NPY2R_uc003ior.2_Frame_Shift_Del_p.W243fs	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	243	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				ACTCGCATTTGGAGTAAATTG	0.443			NA											30	66	---	---	---	---	NA	NA	NA	NA	NA
ACOT12	134526	broad.mit.edu	37	5	80631600	80631600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:80631600delC	uc003khl.3	-	12	1304	c.1249delG	c.(1249-1251)GACfs	p.D417fs	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	417	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AAATGGGGGTCCCACAAAGGT	0.393			NA											39	54	---	---	---	---	NA	NA	NA	NA	NA
CAMK4	814	broad.mit.edu	37	5	110818622	110818622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr5:110818622delG	uc011cvj.1	+	11	1067	c.968delG	c.(967-969)CGGfs	p.R323fs	CAMK4_uc003kpf.2_Frame_Shift_Del_p.R323fs|CAMK4_uc010jbv.2_Frame_Shift_Del_p.R126fs|CAMK4_uc003kpg.2_Frame_Shift_Del_p.R14fs	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	323	Calmodulin-binding (Potential).|PP2A-binding.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTCAATGCCCGGCGTAAGCTT	0.348			NA											10	17	---	---	---	---	NA	NA	NA	NA	NA
BAT2	7916	broad.mit.edu	37	6	31594793	31594793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:31594793delC	uc003nvb.3	+	11	1357	c.1108delC	c.(1108-1110)CCCfs	p.P370fs	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Frame_Shift_Del_p.P370fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	370	4 X 57 AA type A repeats.|2 X type B repeats.|2-1.					cytoplasm|nucleus	protein binding				0						TGAGGAACGGCCCCCTGAAGC	0.517			NA											20	101	---	---	---	---	NA	NA	NA	NA	NA
MCHR2	84539	broad.mit.edu	37	6	100395721	100395721	+	Frame_Shift_Del	DEL	C	C	-	rs138925190	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:100395721delC	uc003pqh.1	-	3	624	c.309delG	c.(307-309)GGGfs	p.G103fs	MCHR2_uc003pqi.1_Frame_Shift_Del_p.G103fs	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	103	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGCAGAGAGGCCCCCCAAACA	0.488			NA											43	95	---	---	---	---	NA	NA	NA	NA	NA
C6orf174	387104	broad.mit.edu	37	6	127837137	127837137	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr6:127837137delC	uc003qbd.2	-	2	1488	c.623delG	c.(622-624)GGCfs	p.G208fs		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	208	Gly-rich.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CCCGCCGCTGCCGCCCCTCTG	0.736			NA											9	15	---	---	---	---	NA	NA	NA	NA	NA
CLCN1	1180	broad.mit.edu	37	7	143039216	143039217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr7:143039216_143039217insT	uc003wcr.1	+	15	1864_1865	c.1777_1778insT	c.(1777-1779)CTTfs	p.L593fs	CLCN1_uc011ktc.1_Frame_Shift_Ins_p.L205fs	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	593	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CTTGCCTGACCTTGGCTGGAAC	0.535			NA											24	28	---	---	---	---	NA	NA	NA	NA	NA
DLGAP2	9228	broad.mit.edu	37	8	1497504	1497505	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:1497504_1497505insT	uc003wpl.2	+	2	742_743	c.645_646insT	c.(643-648)AGCTGGfs	p.S215fs	DLGAP2_uc003wpm.2_Frame_Shift_Ins_p.S215fs	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	294_295					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCATGAGCAGCTGGTGGAGCTC	0.693			NA											11	75	---	---	---	---	NA	NA	NA	NA	NA
POTEA	340441	broad.mit.edu	37	8	43197456	43197456	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chr8:43197456delA	uc003xpz.1	+	11	1388	c.1345delA	c.(1345-1347)AAAfs	p.K449fs	POTEA_uc003xqa.1_Frame_Shift_Del_p.K403fs	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	449										ovary(1)	1						TGAACAACTCAAAATGGATTT	0.363			NA											18	60	---	---	---	---	NA	NA	NA	NA	NA
MSN	4478	broad.mit.edu	37	X	64957044	64957044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:64957044delG	uc004dwf.2	+	10	1293	c.1095delG	c.(1093-1095)CTGfs	p.L365fs		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	365					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						GCTCAGAACTGGAAGAACAGA	0.532			NA	T	ALK	ALCL								10	23	---	---	---	---	NA	NA	NA	NA	NA
ARMCX2	9823	broad.mit.edu	37	X	100911734	100911735	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:100911734_100911735insT	uc004eid.2	-	3	1195_1196	c.840_841insA	c.(838-843)AAAGGTfs	p.K280fs	ARMCX2_uc004eie.3_Frame_Shift_Ins_p.K280fs|ARMCX2_uc004eif.3_Frame_Shift_Ins_p.K280fs|ARMCX2_uc004eig.3_Frame_Shift_Ins_p.K280fs|ARMCX2_uc010nnt.2_Frame_Shift_Ins_p.K280fs	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	280_281						integral to membrane	binding			ovary(6)	6						TTGCCTCCACCTTTGGGTACCG	0.584			NA											42	304	---	---	---	---	NA	NA	NA	NA	NA
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-55-7281-01A-11D-2036-08	TCGA-55-7281-10A-01D-2036-08	GGC	GGC	-	-	GGC	GGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5443922-fea5-4ff0-bd6e-8ce04e1951d8	7ba2ada7-2353-4035-b73c-9b2a3880a72c	g.chrX:149937526_149937528delGGC	uc004fel.2	-	11	886_888	c.768_770delGCC	c.(766-771)CCGCCC>CCC	p.256_257PP>P	CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.2_In_Frame_Del_p.184_185PP>P|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_In_Frame_Del_p.183_184PP>P	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN	CD99 antigen-like 2 isoform E3'-E4'-E3-E4	256_257	Cytoplasmic (Potential).|Poly-Pro.				cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611			NA											9	321	---	---	---	---	NA	NA	NA	NA	NA