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
AKR7A3	22977	broad.mit.edu	37	1	19609317	19609317	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:19609317C>G	uc001bbv.1	-	7	981	c.904G>C	c.(904-906)GCA>CCA	p.A302P		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	302					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCCTCTGCCGCTGCCAAG	0.622			NA											8	71					0	0	0.006214	0	0
CC2D1B	200014	broad.mit.edu	37	1	52828382	52828382	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:52828382G>C	uc001ctq.1	-	3	244	c.106C>G	c.(106-108)CTG>GTG	p.L36V	CC2D1B_uc001cts.2_5'Flank	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	36										ovary(2)	2						ATGCCCAGCAGCATGTCCTCA	0.572			NA											5	87					0	0	0.000602	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294652	110294652	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:110294652G>A	uc001dyr.1	-	15	1544	c.1399C>T	c.(1399-1401)CGG>TGG	p.R467W	EPS8L3_uc001dys.1_Missense_Mutation_p.R437W|EPS8L3_uc001dyq.1_Missense_Mutation_p.R468W|EPS8L3_uc009wfm.1_Missense_Mutation_p.R404W|EPS8L3_uc009wfn.1_Missense_Mutation_p.R412W	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	467	SH3.					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)		GTCAGTTCCCGTGGGTTCCTA	0.602			NA											21	119					0	0	0.008871	0	0
SPRR4	163778	broad.mit.edu	37	1	152944414	152944414	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:152944414G>T	uc001fav.1	+	2	111	c.48G>T	c.(46-48)CAG>CAT	p.Q16H		NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	16	Gln-rich.				keratinization|peptide cross-linking	cell cortex					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)			GCCCACCCCAGAGGGCCCAGC	0.488			NA											7	118					8.12818e-05	9.66761e-05	0.001984	1	0
SLC27A3	11000	broad.mit.edu	37	1	153748206	153748206	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:153748206G>A	uc001fcz.2	+	1	439	c.374G>A	c.(373-375)CGC>CAC	p.R125H	SLC27A3_uc009won.2_RNA	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	solute carrier family 27 member 3	125					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			ovary(1)	1	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCAGCAGCGCGCCGCGCAC	0.711			NA											11	11					0	0	0.00245	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154989004	154989004	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:154989004A>G	uc001fgk.3	+	4	1621	c.1463A>G	c.(1462-1464)AAT>AGT	p.N488S	ZBTB7B_uc009wpa.2_Missense_Mutation_p.N488S|ZBTB7B_uc001fgj.3_Missense_Mutation_p.N522S|ZBTB7B_uc010peq.1_Missense_Mutation_p.N522S|ZBTB7B_uc001fgl.3_Missense_Mutation_p.N488S	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	488					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACCTCTCCAATGGCCACCTG	0.677			NA											3	40					0	0	0.004672	0	0
CD1E	913	broad.mit.edu	37	1	158325668	158325668	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:158325668T>A	uc001fse.2	+	4	916	c.677T>A	c.(676-678)CTG>CAG	p.L226Q	CD1E_uc010pid.1_Missense_Mutation_p.L224Q|CD1E_uc010pie.1_Missense_Mutation_p.L127Q|CD1E_uc010pif.1_Missense_Mutation_p.L37Q|CD1E_uc001fsd.2_Missense_Mutation_p.L226Q|CD1E_uc001fsk.2_Missense_Mutation_p.L136Q|CD1E_uc001fsj.2_Missense_Mutation_p.L136Q|CD1E_uc001fsc.2_Missense_Mutation_p.L37Q|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.L37Q|CD1E_uc001fsf.2_Missense_Mutation_p.L226Q|CD1E_uc001fry.2_Missense_Mutation_p.L226Q|CD1E_uc001fsg.2_Missense_Mutation_p.L37Q|CD1E_uc001fsh.2_Missense_Mutation_p.L37Q|CD1E_uc001fsi.2_Missense_Mutation_p.L226Q|CD1E_uc009wsv.2_Missense_Mutation_p.L127Q|CD1E_uc001frz.2_Missense_Mutation_p.L136Q|CD1E_uc009wsw.2_5'UTR	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	226	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					CCTGGCCGTCTGCAGCTTGTG	0.587			NA											15	63					0	0	0.007413	0	0
TNR	7143	broad.mit.edu	37	1	175324639	175324639	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:175324639C>A	uc001gkp.1	-	15	3330	c.3249G>T	c.(3247-3249)AAG>AAT	p.K1083N	TNR_uc009wwu.1_Missense_Mutation_p.K1083N	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1083	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					AAAATCTCACCTTGCGGCTTC	0.507			NA											6	121					3.59834e-05	4.37937e-05	0.001168	1	0
CEP350	9857	broad.mit.edu	37	1	180062865	180062865	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:180062865A>G	uc001gnt.2	+	34	8008	c.7625A>G	c.(7624-7626)TAT>TGT	p.Y2542C	CEP350_uc009wxl.2_Missense_Mutation_p.Y2541C|CEP350_uc001gnv.2_Missense_Mutation_p.Y677C|CEP350_uc001gnw.1_Missense_Mutation_p.Y299C|CEP350_uc001gnx.1_Missense_Mutation_p.Y299C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2542	CAP-Gly.					centrosome|nucleus|spindle				ovary(4)	4						AATGGAACATATGATGGTATT	0.373			NA											9	105					0	0	0.006214	0	0
TMEM63A	9725	broad.mit.edu	37	1	226048664	226048664	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:226048664C>G	uc001hpm.1	-	14	1369	c.1119G>C	c.(1117-1119)CAG>CAC	p.Q373H		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	373						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					ACTGAAGGCTCTGACACTTGC	0.537			NA											6	117					0	0	0.004482	0	0
LYST	1130	broad.mit.edu	37	1	235850271	235850271	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr1:235850271G>T	uc001hxj.2	-	48	10953	c.10778C>A	c.(10777-10779)ACA>AAA	p.T3593K	LYST_uc001hxi.2_Missense_Mutation_p.T817K	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3593	WD 3.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAATCTGTTTGTGTAGGCTGT	0.453			NA							Chediak-Higashsyndrome				10	104					0.000978159	0.00111283	0.010729	1	0
AKR1C1	1645	broad.mit.edu	37	10	5014469	5014469	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr10:5014469A>G	uc001iho.2	+	11	1488	c.647A>G	c.(646-648)TAT>TGT	p.Y216C	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc001ihq.2_Missense_Mutation_p.Y216C	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	216					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	CTGGTTGCCTATAGTGCTCTG	0.408	Colon(130;2054 2316 13360 15380)		NA											6	68					0	0	0.004482	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363225	105363226	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr10:105363225_105363226TC>AA	uc001kxj.1	-	14	1805_1806	c.1665_1666GA>TT	c.(1663-1668)GAGAGG>GATTGG	p.555_556ER>DW	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.390_391ER>DW|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.432_433ER>DW|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.390_391ER>DW|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.498_499ER>DW	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	583_584					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCAGGCCGCCTCTCCCCTGAGG	0.639			NA											5	63					0	0	0.004672	0	0
KCNK18	338567	broad.mit.edu	37	10	118969399	118969399	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr10:118969399G>A	uc010qsr.1	+	3	744	c.744G>A	c.(742-744)GAG>GAA	p.E248E		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	248	Cytoplasmic (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		AAGCCATGGAGAGGAGTAACT	0.532			NA											4	75					0	0	0.009096	0	0
OR4C3	256144	broad.mit.edu	37	11	48347118	48347118	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:48347118T>G	uc010rhv.1	+	1	626	c.626T>G	c.(625-627)TTG>TGG	p.L209W		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTGTACCCTTTGCTGGAAGTT	0.522			NA											9	53					0	0	0.010729	0	0
C11orf66	220004	broad.mit.edu	37	11	61257979	61257980	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:61257979_61257980GA>TG	uc001nru.1	+	13	1340_1341	c.1215_1216GA>TG	c.(1213-1218)CTGACC>CTTGCC	p.T406A	C11orf66_uc009ynq.1_Missense_Mutation_p.T386A	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	406										ovary(1)	1						GCAGAACCCTGACCTCAGCTGA	0.614			NA											5	138					0	0	0.004672	0	0
C11orf2	738	broad.mit.edu	37	11	64878173	64878173	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:64878173A>C	uc001ocr.1	+	9	2048	c.2008A>C	c.(2008-2010)ATG>CTG	p.M670L	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.M546L	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	670					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CAGTGCCCCGATGGACACCAA	0.562			NA									OREG0021071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	137					0	0	0.004007	0	0
C2CD3	26005	broad.mit.edu	37	11	73849825	73849825	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:73849825T>A	uc001ouu.2	-	5	1122	c.895A>T	c.(895-897)AGT>TGT	p.S299C	C2CD3_uc001ouv.2_Missense_Mutation_p.S299C	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	299						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TCACTGTGACTCTTGGCAACT	0.428			NA											7	85					0	0	0.006214	0	0
EED	8726	broad.mit.edu	37	11	85961365	85961365	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr11:85961365A>G	uc001pbp.2	+	2	599	c.142A>G	c.(142-144)ACA>GCA	p.T48A	EED_uc010rtm.1_Missense_Mutation_p.T48A|EED_uc001pbq.2_Missense_Mutation_p.T48A|EED_uc001pbr.2_Missense_Mutation_p.T48A|EED_uc001pbs.2_Missense_Mutation_p.T48A	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	48					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AGAAAGTGGTACAAACACTGA	0.393			NA											4	47					0	0	0.009096	0	0
KDM5A	5927	broad.mit.edu	37	12	463298	463298	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:463298G>A	uc001qif.1	-	8	1336	c.973C>T	c.(973-975)CCT>TCT	p.P325S	KDM5A_uc001qie.1_Missense_Mutation_p.P325S|KDM5A_uc010sdn.1_Missense_Mutation_p.P284S|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	325	PHD-type 1.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						GGTAGTGGAGGAATTAGACAA	0.393			NA	T 	NUP98	AML								6	53					0	0	0.001168	0	0
PZP	5858	broad.mit.edu	37	12	9346702	9346702	+	Missense_Mutation	SNP	T	T	A	rs144906712		TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:9346702T>A	uc001qvl.2	-	11	1254	c.1225A>T	c.(1225-1227)AGT>TGT	p.S409C	PZP_uc009zgl.2_Missense_Mutation_p.S278C	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						ACCGAGATACTGGTAGTATTG	0.378	Melanoma(125;1402 1695 4685 34487 38571)		NA											10	87					0	0	0.006214	0	0
KLRK1	22914	broad.mit.edu	37	12	10525829	10525829	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:10525829G>T	uc009zhj.2	-	8	699	c.535C>A	c.(535-537)CTA>ATA	p.L179I	uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Missense_Mutation_p.L179I|KLRK1_uc009zhk.2_Missense_Mutation_p.L179I|KLRK1_uc001qyd.2_Missense_Mutation_p.L179I	NM_007360	NP_031386	P26718	NKG2D_HUMAN	NKG2-D type II integral membrane protein	179	Extracellular (Potential).|C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding				0						ATTATTGTTAGTCTAGAGGAG	0.333			NA											13	91					1.36491e-13	1.89638e-13	0.001855	1	0
CCNT1	904	broad.mit.edu	37	12	49088166	49088166	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:49088166C>A	uc001rse.1	-	9	1154	c.831G>T	c.(829-831)AAG>AAT	p.K277N	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_5'UTR	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	277					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						GCTCTGAAGTCTTTTCATCTG	0.418			NA											10	137					0.00829132	0.00916716	0.008291	1	0
KRT6C	286887	broad.mit.edu	37	12	52862852	52862852	+	Silent	SNP	C	C	T	rs143211712		TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:52862852C>T	uc001sal.3	-	9	1737	c.1689G>A	c.(1687-1689)AAG>AAA	p.K563K		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	563	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACTTTAGTGCTTGTAGCTCT	0.607			NA											7	68					0	0	0.001984	0	0
KRT76	51350	broad.mit.edu	37	12	53169354	53169354	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:53169354C>T	uc001sax.2	-	2	687	c.633G>A	c.(631-633)CTG>CTA	p.L211L		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	211	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|skin(1)	2						ACTTGGTCTCCAGGACCTTGT	0.567			NA											8	129					0	0	0.004482	0	0
POLR3B	55703	broad.mit.edu	37	12	106824084	106824084	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:106824084C>G	uc001tlp.2	+	14	1519	c.1297C>G	c.(1297-1299)CGC>GGC	p.R433G	POLR3B_uc001tlq.2_Missense_Mutation_p.R375G	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	433					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TAAAATGGACCGCCAGGGTGT	0.433			NA											28	163					0	0	0.005443	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180954	43180954	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr13:43180954C>T	uc001uyu.2	+	5	1003	c.854C>T	c.(853-855)TCT>TTT	p.S285F	TNFSF11_uc001uyt.2_Missense_Mutation_p.S212F	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	285	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		AAGTTACGGTCTGGAGAGGAA	0.423			NA											7	120					0	0	0.001984	0	0
RB1	5925	broad.mit.edu	37	13	48941720	48941720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr13:48941720C>T	uc001vcb.2	+	10	1196	c.1030C>T	c.(1030-1032)CAG>TAG	p.Q344*	RB1_uc010act.1_Nonsense_Mutation_p.Q45*	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	344					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(6)|p.D340fs*5(1)|p.Q344*(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAAAACTCTTCAGACTGATTC	0.279			6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			7	118					0	0	0.00308	0	0
PCDH20	64881	broad.mit.edu	37	13	61987635	61987635	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr13:61987635G>A	uc001vid.3	-	2	961	c.597C>T	c.(595-597)ATC>ATT	p.I199I	PCDH20_uc010thj.1_Silent_p.I199I	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	172	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGATGTCTCTGATGGCGATCT	0.517			NA											8	77					0	0	0.00308	0	0
OR10G2	26534	broad.mit.edu	37	14	22102425	22102425	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:22102425G>A	uc010tmc.1	-	1	574	c.574C>T	c.(574-576)CTG>TTG	p.L192L		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GCACAGGCCAGTCTCAATACT	0.527			NA											15	99					0	0	0.00499	0	0
SOS2	6655	broad.mit.edu	37	14	50667775	50667775	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:50667775G>A	uc001wxs.3	-	3	339	c.241C>T	c.(241-243)CCA>TCA	p.P81S	SOS2_uc010tql.1_Missense_Mutation_p.P81S	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	81					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTATCAATTGGGTGAGGAAAG	0.373			NA											8	100					0	0	0.00308	0	0
HEATR4	399671	broad.mit.edu	37	14	73989316	73989316	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:73989316G>C	uc010tub.1	-	3	863	c.541C>G	c.(541-543)CTA>GTA	p.L181V	HEATR4_uc010tua.1_Missense_Mutation_p.L134V	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTCACATCTAGAGAAGGTGGC	0.587			NA											7	27					0	0	0.001984	0	0
TDP1	55775	broad.mit.edu	37	14	90430011	90430011	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr14:90430011A>G	uc001xxy.2	+	3	852	c.553A>G	c.(553-555)ATC>GTC	p.I185V	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.I185V|TDP1_uc010atn.2_Missense_Mutation_p.I185V|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.I185V|TDP1_uc001xyc.1_Missense_Mutation_p.I185V	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	185					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGCCCTCCACATCAAGGGTAA	0.493			NA						Repair_of_DNA-protein_crosslinks					4	79					0	0	0.009096	0	0
OR4N4	283694	broad.mit.edu	37	15	22382756	22382756	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr15:22382756G>T	uc001yuc.1	+	7	1265	c.284G>T	c.(283-285)AGA>ATA	p.R95I	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R95I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCTCCTACAGAGGCTGCATC	0.517			NA											8	176					5.03518e-11	6.81486e-11	0.007413	1	0
OR4N3P	390539	broad.mit.edu	37	15	22413745	22413745	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr15:22413745G>T	uc001yuf.2	+	1	44	c.44G>T	c.(43-45)AGA>ATA	p.R15I		NM_001080841	NP_001074310			RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;												0						ATCTCCTACAGAGGCTGCATC	0.507			NA											7	382					5.50884e-06	6.86419e-06	0.013537	1	0
PLIN1	5346	broad.mit.edu	37	15	90213396	90213396	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr15:90213396G>T	uc010upx.1	-	5	523	c.413C>A	c.(412-414)ACT>AAT	p.T138N	PLIN1_uc002boh.2_Missense_Mutation_p.T138N	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN	perilipin 1	138					triglyceride catabolic process	lipid particle	lipid binding			central_nervous_system(1)|skin(1)	2						CTTGTCTGAAGTGCTCGCGAT	0.627			NA											7	27					2.0095e-06	2.54428e-06	0.001984	1	0
SRRM2	23524	broad.mit.edu	37	16	2814127	2814127	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr16:2814127C>A	uc002crk.2	+	11	4147	c.3598C>A	c.(3598-3600)CTG>ATG	p.L1200M	SRRM2_uc002crj.1_Missense_Mutation_p.L1104M|SRRM2_uc002crl.1_Missense_Mutation_p.L1200M|SRRM2_uc010bsu.1_Missense_Mutation_p.L1104M	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1200	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TGAGTCTTCACTGGTATTCAA	0.473			NA											8	136					0.000442599	0.000514727	0.006214	1	0
SLC5A11	115584	broad.mit.edu	37	16	24909301	24909301	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr16:24909301G>T	uc002dmu.2	+	10	1109	c.877G>T	c.(877-879)GTC>TTC	p.V293F	SLC5A11_uc002dms.2_Missense_Mutation_p.V229F|SLC5A11_uc010vcd.1_Missense_Mutation_p.V258F|SLC5A11_uc002dmt.2_Missense_Mutation_p.C160F|SLC5A11_uc010vce.1_Missense_Mutation_p.V223F|SLC5A11_uc010bxt.2_Missense_Mutation_p.V229F	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	293	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		CCAGGTGATTGTCCAGCGGAC	0.388			NA											37	210					5.71845e-15	8.01604e-15	0.005524	1	0
GSG1L	146395	broad.mit.edu	37	16	27840114	27840114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr16:27840114C>A	uc002doz.2	-	5	911	c.826G>T	c.(826-828)GAG>TAG	p.E276*	GSG1L_uc010bya.1_Nonsense_Mutation_p.E225*|GSG1L_uc010bxz.1_Nonsense_Mutation_p.E121*|GSG1L_uc002doy.2_Nonsense_Mutation_p.E121*	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	276						integral to membrane				ovary(1)	1						ACTGACCTCTCCCGGAAGTAC	0.602			NA											10	34					1.58986e-06	2.02934e-06	0.008291	1	0
MINK1	50488	broad.mit.edu	37	17	4798435	4798435	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:4798435G>T	uc010vsl.1	+	25	3179	c.2983G>T	c.(2983-2985)GTC>TTC	p.V995F	MINK1_uc010vsk.1_Missense_Mutation_p.V966F|MINK1_uc010vsm.1_Missense_Mutation_p.V975F|MINK1_uc010vsn.1_Missense_Mutation_p.V958F|MINK1_uc010vso.1_Missense_Mutation_p.V903F|MINK1_uc010vsp.1_Missense_Mutation_p.V456F	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	995	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						GGGTTCTGTGGTCAACGTGAA	0.607			NA											17	401					1.02788e-11	1.40328e-11	0.00499	1	0
EIF4A1	1973	broad.mit.edu	37	17	7480995	7480995	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:7480995C>G	uc002gho.1	+	16	2202	c.877C>G	c.(877-879)CAT>GAT	p.H293D	EIF4A1_uc002ghr.1_Missense_Mutation_p.H293D|EIF4A1_uc002ghq.1_Missense_Mutation_p.H293D|EIF4A1_uc002ghp.1_Missense_Mutation_p.H293D|SNORA67_uc010cml.1_5'Flank|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	293	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						CGAGAAGATGCATGCTCGAGA	0.547	Melanoma(120;278 1668 15796 27423 46368)		NA											11	140					0	0	0.010729	0	0
MYH13	8735	broad.mit.edu	37	17	10216590	10216590	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:10216590C>T	uc002gmk.1	-	30	4156	c.4066G>A	c.(4066-4068)GAA>AAA	p.E1356K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1356	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GCCTTGGCTTCCTGCTCCTCC	0.627			NA											14	129					0	0	0.001855	0	0
COX10	1352	broad.mit.edu	37	17	14110404	14110404	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:14110404C>T	uc002gof.3	+	7	1410	c.1206C>T	c.(1204-1206)GAC>GAT	p.D402D	COX10_uc010vvs.1_Silent_p.D185D|COX10_uc010vvt.1_Silent_p.D210D	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	402					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCTACGTGGACGCAGACCGCA	0.632			NA											6	72					0	0	0.001984	0	0
NCOR1	9611	broad.mit.edu	37	17	15935793	15935793	+	Silent	SNP	T	T	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:15935793T>G	uc002gpo.2	-	46	7380	c.7140A>C	c.(7138-7140)TCA>TCC	p.S2380S	NCOR1_uc002gpn.2_Silent_p.S2277S|NCOR1_uc002gpl.2_Silent_p.S394S|NCOR1_uc002gpm.2_Silent_p.S899S|NCOR1_uc010vwb.1_Silent_p.S964S|NCOR1_uc010coy.2_Silent_p.S1288S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2380	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAACTGAGTTGAGCCTGACA	0.428			NA											4	75					0	0	0.000602	0	0
MYO15A	51168	broad.mit.edu	37	17	18052870	18052870	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:18052870C>T	uc010vxh.1	+	34	7526	c.7188C>T	c.(7186-7188)GAC>GAT	p.D2396D		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2396	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GCCTCTTTGACCCTGTGCTGT	0.562			NA											5	60					0	0	0.000602	0	0
CYTSB	92521	broad.mit.edu	37	17	20013766	20013766	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:20013766G>A	uc002gwq.2	+	3	319	c.174G>A	c.(172-174)ACG>ACA	p.T58T	CYTSB_uc010cqx.2_Silent_p.T58T|CYTSB_uc002gwr.2_Silent_p.T58T|CYTSB_uc002gws.2_Silent_p.T58T	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	58						nucleus					0						GTGAGGACACGCTCAACAAGC	0.577			NA											4	91					0	0	0.009096	0	0
SPAG5	10615	broad.mit.edu	37	17	26905478	26905478	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:26905478G>A	uc002hbq.2	-	21	3359	c.3267C>T	c.(3265-3267)CTC>CTT	p.L1089L	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1089	Potential.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					GGGCCTCCTGGAGCACTTTGG	0.577			NA											6	84					0	0	0.001984	0	0
NF1	4763	broad.mit.edu	37	17	29528174	29528174	+	Silent	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:29528174T>C	uc002hgg.2	+	10	1515	c.1182T>C	c.(1180-1182)TTT>TTC	p.F394F	NF1_uc002hge.1_Silent_p.F394F|NF1_uc002hgf.1_Silent_p.F394F|NF1_uc002hgh.2_Silent_p.F394F|NF1_uc010csn.1_Silent_p.F254F	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	394					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAACACTTTAAGGTGAGAG	0.368			NA	D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			12	62					0	0	0.013537	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:39262103A>T	uc010wfp.1	+	1	463	c.463A>T	c.(463-465)AGC>TGC	p.S155C		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament					0						ccccagctgcagcatctccag	0.124			NA											3	21					0	0	0.009096	0	0
STAT3	6774	broad.mit.edu	37	17	40490754	40490754	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:40490754T>C	uc002hzl.1	-	6	785	c.545A>G	c.(544-546)CAA>CGA	p.Q182R	STAT3_uc002hzk.1_Missense_Mutation_p.Q182R|STAT3_uc002hzm.1_Missense_Mutation_p.Q182R|STAT3_uc010wgh.1_Missense_Mutation_p.Q84R|STAT3_uc002hzn.1_Missense_Mutation_p.Q182R	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	182					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTGCCTCCTTGACTCTTGAG	0.328			NA							Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome				29	82					0	0	0.00632	0	0
PRKCA	5578	broad.mit.edu	37	17	64684503	64684503	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:64684503G>T	uc002jfp.1	+	7	814	c.770G>T	c.(769-771)GGA>GTA	p.G257V	PRKCA_uc002jfo.1_Missense_Mutation_p.G128V	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	257	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GACTTCATGGGATCCCTTTCC	0.468			NA											10	72					2.17888e-05	2.67253e-05	0.006214	1	0
C17orf58	284018	broad.mit.edu	37	17	65989196	65989196	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr17:65989196A>G	uc002jgi.3	-	2	382	c.67T>C	c.(67-69)TCC>CCC	p.S23P	C17orf58_uc002jgj.3_Missense_Mutation_p.S23P	NM_181655	NP_858041	Q2M2W7	CQ058_HUMAN	hypothetical protein LOC284018 isoform a	23											0	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGCAGCTGGAGGAGTCCAGG	0.532			NA											3	74					0	0	0.004672	0	0
MOCOS	55034	broad.mit.edu	37	18	33785085	33785085	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:33785085A>G	uc002kzq.3	+	6	1087	c.1064A>G	c.(1063-1065)TAT>TGT	p.Y355C		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	355					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TTGGCTCAGTATACCTACGTG	0.478			NA											10	65					0	0	0.008291	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241580	60241581	+	Missense_Mutation	DNP	GT	GT	TC			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:60241580_60241581GT>TC	uc002lip.3	+	13	2266_2267	c.2266_2267GT>TC	c.(2266-2268)GTT>TCT	p.V756S	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.V226S	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	756					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						TCCTAGTCCTGTTGCTATTTCT	0.485			NA											4	70					0	0	0.004672	0	0
ZNF407	55628	broad.mit.edu	37	18	72775115	72775115	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:72775115C>G	uc002llw.2	+	8	5495	c.5438C>G	c.(5437-5439)TCC>TGC	p.S1813C		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCATTGTTTCCAAGTCGTAC	0.557			NA											6	104					0	0	0.001984	0	0
ZNF236	7776	broad.mit.edu	37	18	74587576	74587576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr18:74587576C>T	uc002lmi.2	+	6	988	c.790C>T	c.(790-792)CAG>TAG	p.Q264*	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Nonsense_Mutation_p.Q264*	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	264	C2H2-type 8.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGCCTTCTCTCAGAAAGGGAA	0.527			NA									OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	114					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9088564	9088564	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:9088564G>T	uc002mkp.2	-	1	3455	c.3251C>A	c.(3250-3252)CCA>CAA	p.P1084Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1084	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						GGACTGAGATGGAGATACTGA	0.448			NA											14	61					0.000151284	0.000178584	0.001855	1	0
CCDC123	84902	broad.mit.edu	37	19	33424561	33424561	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:33424561C>T	uc002nty.2	-	8	771	c.682G>A	c.(682-684)GCA>ACA	p.A228T	CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.A228T|CCDC123_uc002nua.2_Missense_Mutation_p.A228T	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	coiled-coil domain containing 123	228						centrosome|spindle pole					0	Esophageal squamous(110;0.137)					CTTTGACGTGCTCTACCAGTT	0.328			NA											10	148					0	0	0.006214	0	0
CHST8	64377	broad.mit.edu	37	19	34263411	34263411	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:34263411G>A	uc002nus.3	+	5	1223	c.718G>A	c.(718-720)GAC>AAC	p.D240N	CHST8_uc002nut.3_Missense_Mutation_p.D240N|CHST8_uc002nuu.2_Missense_Mutation_p.D240N	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	240	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					GGACACCTTCGACCGCCAGGG	0.627			NA											5	134					0	0	0.000602	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704794	41704794	+	Splice_Site	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:41704794G>T	uc002opw.2	+	5	889	c.834_splice	c.e5+1	p.Q278_splice	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						GATGGCACAGGTGTGGGAAGG	0.627			NA											11	43					3.07112e-06	3.85732e-06	0.010729	1	0
PSG11	5680	broad.mit.edu	37	19	43523198	43523198	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:43523198C>A	uc002ovm.1	-	3	540	c.433G>T	c.(433-435)GAG>TAG	p.E145*	PSG11_uc002ouw.2_Nonsense_Mutation_p.E151*|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Nonsense_Mutation_p.E151*|PSG11_uc002ovn.1_Nonsense_Mutation_p.E151*|PSG11_uc002ovo.1_Nonsense_Mutation_p.E23*|PSG11_uc002ovp.1_Nonsense_Mutation_p.E23*	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	145					female pregnancy	extracellular region					0		Prostate(69;0.00682)				TTGGGAGTCTCCACTGTGCAG	0.507			NA											31	301					3.90053e-15	5.51696e-15	0.012213	1	0
GRLF1	2909	broad.mit.edu	37	19	47422502	47422502	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:47422502A>T	uc010ekv.2	+	1	570	c.570A>T	c.(568-570)AAA>AAT	p.K190N		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	190					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		AGCTTGCAAAAACAAAAAAGC	0.418			NA											5	82					0	0	0.000602	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55333080	55333080	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:55333080G>A	uc002qhk.3	+	5	779	c.716G>A	c.(715-717)AGC>AAC	p.S239N	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.S181N|KIR3DL1_uc010esf.2_Missense_Mutation_p.S144N|KIR3DL1_uc010yfo.1_Missense_Mutation_p.S181N|KIR3DL1_uc002qhl.3_Missense_Mutation_p.S239N	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	239	Extracellular (Potential).|Ig-like C2-type 3.				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GCAGGAGAGAGCGTGACCTTG	0.587			NA											6	131					0	0	0.004482	0	0
KIR2DS4	3809	broad.mit.edu	37	19	55351078	55351078	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr19:55351078C>G	uc002qhm.1	+	5	634	c.588C>G	c.(586-588)TAC>TAG	p.Y196*	KIR2DS4_uc010yfj.1_Missense_Mutation_p.T182R|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.T189R|KIR2DS4_uc002qhn.1_Intron	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	196	Extracellular (Potential).|Ig-like C2-type 2.					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GAGGGACCTACAGATGCTTCG	0.587			NA											7	298					0	0	0.001984	0	0
DCTN1	1639	broad.mit.edu	37	2	74605276	74605276	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:74605276C>G	uc002skx.2	-	2	441	c.130G>C	c.(130-132)GTG>CTG	p.V44L	DCTN1_uc002skw.1_Missense_Mutation_p.V27L|DCTN1_uc010ffd.2_Missense_Mutation_p.V44L|DCTN1_uc002sky.2_Missense_Mutation_p.V27L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	44					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						ACATAGGCCACAGTGCCTCGG	0.582			NA											11	104					0	0	0.010729	0	0
TTL	150465	broad.mit.edu	37	2	113260740	113260740	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:113260740A>G	uc002thu.2	+	5	1036	c.857A>G	c.(856-858)CAA>CGA	p.Q286R	TTL_uc010fkm.1_RNA	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	286	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATCTTACTACAAATCAAACAT	0.209			NA	T	ETV6	ALL								9	67					0	0	0.004482	0	0
RBMS1	5937	broad.mit.edu	37	2	161223815	161223815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:161223815C>A	uc002ubo.2	-	2	607	c.163G>T	c.(163-165)GGA>TGA	p.G55*	RBMS1_uc002ubj.2_Nonsense_Mutation_p.G22*|RBMS1_uc002ubk.2_Nonsense_Mutation_p.G22*|RBMS1_uc002ubl.2_Nonsense_Mutation_p.G53*|RBMS1_uc002ubn.2_Nonsense_Mutation_p.G55*|RBMS1_uc002ubi.3_Nonsense_Mutation_p.G55*|RBMS1_uc002ubm.2_Nonsense_Mutation_p.G22*|RBMS1_uc002ubp.2_Nonsense_Mutation_p.G55*|RBMS1_uc010fox.2_Nonsense_Mutation_p.G55*	NM_016836	NP_058520	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting	55					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding				0						TGATCCCATCCTGAgttgcta	0.448			NA											11	107					3.86212e-05	4.62865e-05	0.008291	1	0
ITGA6	3655	broad.mit.edu	37	2	173344444	173344444	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:173344444G>A	uc002uhp.1	+	10	1667	c.1464G>A	c.(1462-1464)GCG>GCA	p.A488A	ITGA6_uc010zdy.1_Silent_p.A369A|ITGA6_uc002uho.1_Silent_p.A488A|ITGA6_uc010fqm.1_Silent_p.A134A	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	527	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAAAACAGCGTGTGGGGCGC	0.488			NA											26	208					0	0	0.003954	0	0
HOXD10	3236	broad.mit.edu	37	2	176983731	176983731	+	Silent	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:176983731T>C	uc002ukj.2	+	2	865	c.795T>C	c.(793-795)AGT>AGC	p.S265S		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	265						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CTGCAAAGAGTGGCAGAAAGA	0.413			NA											5	69					0	0	0.001168	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr20:29625885A>T	uc010ztl.1	+	2	71	c.39A>T	c.(37-39)AAA>AAT	p.K13N	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						TCGCCCTGAAATCTGGCTATG	0.353			NA											5	100					0	0	0.00308	0	0
LAMA5	3911	broad.mit.edu	37	20	60904066	60904066	+	Silent	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr20:60904066G>C	uc002ycq.2	-	34	4348	c.4281C>G	c.(4279-4281)CTC>CTG	p.L1427L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1427	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGAGGGAGAGGGAAGCAG	0.652			NA											7	51					0	0	0.001984	0	0
TOM1	10043	broad.mit.edu	37	22	35728979	35728979	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr22:35728979A>G	uc003ann.2	+	9	1030	c.905A>G	c.(904-906)GAA>GGA	p.E302G	TOM1_uc011ami.1_Missense_Mutation_p.E269G|TOM1_uc011amj.1_Missense_Mutation_p.E145G|TOM1_uc003ans.2_Missense_Mutation_p.E145G|TOM1_uc011amk.1_Missense_Mutation_p.E264G|TOM1_uc003anp.2_Missense_Mutation_p.E302G|TOM1_uc011aml.1_Missense_Mutation_p.E257G|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.E296G|TOM1_uc003anr.2_Missense_Mutation_p.E145G	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	302	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						TGTAGGTTTGAACGGTTCCGA	0.438			NA											6	98					0	0	0.001984	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996129	43996129	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr22:43996129C>A	uc003bdy.1	-	23	2911	c.2696G>T	c.(2695-2697)GGA>GTA	p.G899V	EFCAB6_uc003bdz.1_Missense_Mutation_p.G747V|EFCAB6_uc010gzi.1_Missense_Mutation_p.G747V|EFCAB6_uc010gzj.1_Missense_Mutation_p.G125V	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	899	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGCCCTTTTCCCTCGGTGTC	0.428			NA											24	99					5.35356e-11	7.18383e-11	0.00278	1	0
RFTN1	23180	broad.mit.edu	37	3	16411656	16411656	+	Silent	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:16411656T>C	uc003cay.2	-	6	1239	c.957A>G	c.(955-957)TTA>TTG	p.L319L	RFTN1_uc010hes.2_Silent_p.L283L	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	319						plasma membrane				ovary(3)|central_nervous_system(1)	4						TCATGTGCTCTAACCAGTTGG	0.517			NA											29	170					0	0	0.009535	0	0
USP4	7375	broad.mit.edu	37	3	49335338	49335338	+	Silent	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:49335338A>T	uc003cwq.2	-	13	1735	c.1656T>A	c.(1654-1656)GGT>GGA	p.G552G	USP4_uc003cwo.2_Silent_p.G264G|USP4_uc003cwp.2_Silent_p.G282G|USP4_uc003cwr.2_Silent_p.G505G	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	552					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGTGGTTTAAACCTTCATCCA	0.433			NA											8	47					0	0	0.004482	0	0
DNAH1	25981	broad.mit.edu	37	3	52416426	52416426	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:52416426G>A	uc011bef.1	+	50	8157	c.7896G>A	c.(7894-7896)GCG>GCA	p.A2632A	DNAH1_uc003ddv.2_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2632	AAA 4 (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)		TGCTCAAGGCGGGCCTACAGA	0.592			NA											16	134					0	0	0.003163	0	0
EPHA6	285220	broad.mit.edu	37	3	96533506	96533506	+	Silent	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:96533506G>T	uc010how.1	+	1	82	c.39G>T	c.(37-39)CCG>CCT	p.P13P	EPHA6_uc003drp.1_Silent_p.P13P	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	Error:Variant_position_missing_in_Q9UF33_after_alignment						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						GGAGCTCCCCGGCGCCGCAGG	0.721			NA											5	31					0.000602214	0.000695203	0.000602	1	0
CCDC14	64770	broad.mit.edu	37	3	123633720	123633720	+	Missense_Mutation	SNP	C	C	A	rs148584055	by1000genomes	TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr3:123633720C>A	uc011bjx.1	-	13	2859	c.2768G>T	c.(2767-2769)CGT>CTT	p.R923L	CCDC14_uc003egv.3_Missense_Mutation_p.R564L|CCDC14_uc003egx.3_Missense_Mutation_p.R723L|CCDC14_uc010hrt.2_Missense_Mutation_p.R882L|CCDC14_uc003egy.3_Missense_Mutation_p.R723L|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	923						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTGTTCATCACGAGAAGTGAA	0.433			NA											5	28					0.00116845	0.00131033	0.001168	1	0
HTRA3	94031	broad.mit.edu	37	4	8307713	8307713	+	Silent	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:8307713T>C	uc003gla.2	+	9	1416	c.1212T>C	c.(1210-1212)GAT>GAC	p.D404D		NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	404	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						GCATCCAAGATGGTGACATCA	0.652			NA											4	73					0	0	0.001168	0	0
ENAM	10117	broad.mit.edu	37	4	71510435	71510435	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:71510435G>C	uc011caw.1	+	9	3573	c.3292G>C	c.(3292-3294)GAG>CAG	p.E1098Q		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	1098					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			CACATTGGTTGAGTTAGCTAC	0.428			NA											6	78					0	0	0.001168	0	0
Unknown	0	broad.mit.edu	37	4	88814431	88814431	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:88814431A>T	uc010iko.1	+	4	1058	c.1058A>T	c.(1057-1059)CAG>CTG	p.Q353L						SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;												NA						AAGGAGACACAGAAGTCCACC	0.522			NA											6	89					0	0	0.001168	0	0
TBCK	93627	broad.mit.edu	37	4	106967751	106967751	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:106967751G>A	uc010ilv.2	-	26	3023	c.2658C>T	c.(2656-2658)CTC>CTT	p.L886L	TBCK_uc003hyb.2_Silent_p.L629L|TBCK_uc003hye.2_Silent_p.L847L|TBCK_uc003hyc.2_Silent_p.L823L|TBCK_uc003hyd.2_Silent_p.L714L|TBCK_uc003hyf.2_Silent_p.L886L	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	886	Rhodanese.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						ATGGGATGGTGAGGAGGCCTG	0.423			NA											7	54					0	0	0.001984	0	0
RXFP1	59350	broad.mit.edu	37	4	159572994	159572994	+	Silent	SNP	A	A	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:159572994A>T	uc003ipz.2	+	18	2143	c.2061A>T	c.(2059-2061)CCA>CCT	p.P687P	RXFP1_uc011cja.1_Silent_p.P582P|RXFP1_uc010iqo.2_Silent_p.P639P|RXFP1_uc011cjb.1_Silent_p.P585P|RXFP1_uc010iqk.2_Silent_p.P555P|RXFP1_uc011cjc.1_Silent_p.P606P|RXFP1_uc011cjd.1_Silent_p.P606P|RXFP1_uc010iql.2_Silent_p.P531P|RXFP1_uc011cje.1_Silent_p.P714P|RXFP1_uc010iqm.2_Silent_p.P654P|RXFP1_uc011cjf.1_Silent_p.P556P|RXFP1_uc010iqn.2_Silent_p.P632P	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	687	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CCACAAGACCATTTAAAGAAA	0.363			NA											12	79					0	0	0.010729	0	0
CASP3	836	broad.mit.edu	37	4	185552921	185552921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr4:185552921G>A	uc003iwh.2	-	6	744	c.481C>T	c.(481-483)CAG>TAG	p.Q161*	CASP3_uc003iwg.2_Nonsense_Mutation_p.Q161*|CASP3_uc003iwi.2_Nonsense_Mutation_p.Q161*	NM_004346	NP_004337	P42574	CASP3_HUMAN	caspase 3 preproprotein	161					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			kidney(1)	1		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GACATTACCTGAATAATGAAA	0.338			NA											6	65					0	0	0.001984	0	0
TRIO	7204	broad.mit.edu	37	5	14387678	14387678	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:14387678G>A	uc003jff.2	+	22	3708	c.3702G>A	c.(3700-3702)CGG>CGA	p.R1234R	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.R1185R|TRIO_uc003jfh.1_Silent_p.R883R	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1234					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TCTCTCTGCGGATGGAGAAGT	0.438			NA											4	131					0	0	0.009096	0	0
CDH10	1008	broad.mit.edu	37	5	24488011	24488011	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:24488011C>T	uc003jgr.1	-	12	2460	c.2128G>A	c.(2128-2130)GTC>ATC	p.V710I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	710	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AAATCCCGGACGTCCGTGTTA	0.468			NA								HNSCC(23;0.051)			11	96					0	0	0.008291	0	0
CDH6	1004	broad.mit.edu	37	5	31316327	31316327	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:31316327A>G	uc003jhe.1	+	9	1729	c.1403A>G	c.(1402-1404)CAA>CGA	p.Q468R	CDH6_uc003jhd.1_Missense_Mutation_p.Q468R	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	468	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						AATCCAAAGCAAAGTAGTCGA	0.373			NA											7	64					0	0	0.00308	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772817	140772817	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:140772817C>T	uc003lkd.1	+	1	1335	c.437C>T	c.(436-438)GCG>GTG	p.A146V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A146V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	146	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGAAATCGCGGTTCCTGGA	0.448			NA											5	93					0	0	0.001168	0	0
KIF4B	285643	broad.mit.edu	37	5	154396603	154396603	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr5:154396603G>T	uc010jih.1	+	1	3344	c.3184G>T	c.(3184-3186)GGC>TGC	p.G1062C		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1062	Interaction with PRC1 (By similarity).|Globular (By similarity).				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)			tgatggtgatggcgacagtga	0.383			NA											10	46					0.000442599	0.000514727	0.006214	1	0
HIVEP1	3096	broad.mit.edu	37	6	12125124	12125124	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:12125124A>C	uc003nac.2	+	4	5275	c.5096A>C	c.(5095-5097)AAC>ACC	p.N1699T	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1699					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCTTTGCCAAACCCAGAGAAG	0.368			NA											3	102					0	0	0.004672	0	0
RGL2	5863	broad.mit.edu	37	6	33260318	33260318	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:33260318T>C	uc003odv.2	-	17	2144	c.2011A>G	c.(2011-2013)ACA>GCA	p.T671A	RGL2_uc003odu.2_Missense_Mutation_p.T231A|RGL2_uc010jur.2_Missense_Mutation_p.T231A|RGL2_uc003odw.2_Missense_Mutation_p.T589A	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	671	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						TCCTGGCTTGTCACCTGGCAG	0.483			NA											9	88					0	0	0.004482	0	0
DST	667	broad.mit.edu	37	6	56504285	56504285	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:56504285C>G	uc003pdf.2	-	20	2751	c.2723G>C	c.(2722-2724)AGA>ACA	p.R908T	DST_uc003pcz.3_Missense_Mutation_p.R730T|DST_uc011dxj.1_Missense_Mutation_p.R759T|DST_uc011dxk.1_Missense_Mutation_p.R770T|DST_uc011dxl.1_Missense_Mutation_p.R759T|DST_uc003pcy.3_Missense_Mutation_p.R404T|DST_uc003pdb.2_Missense_Mutation_p.R404T|DST_uc003pdc.3_Missense_Mutation_p.R404T|DST_uc003pdd.3_Missense_Mutation_p.R404T|DST_uc003pde.2_Missense_Mutation_p.R846T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	730	Spectrin 1.				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)			GTTGGTGTTTCTCTCACTCCA	0.353			NA											22	125					0	0	0.014323	0	0
LCA5	167691	broad.mit.edu	37	6	80198869	80198869	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:80198869C>G	uc003pix.2	-	7	1598	c.1163G>C	c.(1162-1164)AGA>ACA	p.R388T	LCA5_uc003piy.2_Missense_Mutation_p.R388T	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	388					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTTTCTTCTCTTTCCATAAT	0.358			NA											17	89					0	0	0.004007	0	0
SMPD2	6610	broad.mit.edu	37	6	109764084	109764084	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:109764084C>T	uc003pti.2	+	7	1015	c.621C>T	c.(619-621)TTC>TTT	p.F207F	PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	207					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTCGGGACTTCAAGGTGAGGA	0.542			NA											15	79					0	0	0.003163	0	0
AKAP12	9590	broad.mit.edu	37	6	151673899	151673899	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr6:151673899C>T	uc011eep.1	+	4	4613	c.4373C>T	c.(4372-4374)TCT>TTT	p.S1458F	AKAP12_uc003qoe.2_Missense_Mutation_p.S1458F|AKAP12_uc003qof.2_Missense_Mutation_p.S1360F|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.S1353F	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1458					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGAAATCCTCTGAAAAAAAT	0.478	Melanoma(141;1616 1805 10049 24534 51979)		NA											4	76					0	0	0.009096	0	0
THSD7A	221981	broad.mit.edu	37	7	11464415	11464415	+	Nonsense_Mutation	SNP	G	G	C			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:11464415G>C	uc003ssf.3	-	15	3543	c.3291C>G	c.(3289-3291)TAC>TAG	p.Y1097*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1097	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACCCATAGGTACTGGTTGC	0.512			NA								HNSCC(18;0.044)			11	148					0	0	0.008291	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066750	18066750	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:18066750A>G	uc003stz.2	-	1	737	c.656T>C	c.(655-657)GTA>GCA	p.V219A		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	219	Binding of phosphoribosylpyrophosphate (Potential).				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CATGTCATCTACAAGGATAGC	0.448			NA											20	97					0	0	0.010504	0	0
FKBP9	11328	broad.mit.edu	37	7	33044805	33044805	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:33044805G>A	uc003tdh.2	+	10	1736	c.1555G>A	c.(1555-1557)GCC>ACC	p.A519T	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.A572T|FKBP9_uc011kam.1_Missense_Mutation_p.A287T	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	519	EF-hand 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			GTACATTCACGCCCAGGTGGC	0.537			NA											4	83					0	0	0.004482	0	0
POLD2	5425	broad.mit.edu	37	7	44157303	44157303	+	Silent	SNP	T	T	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:44157303T>A	uc010kxz.2	-	5	1031	c.381A>T	c.(379-381)ATA>ATT	p.I127I	POLD2_uc003tke.3_Silent_p.I127I|POLD2_uc010kya.2_Silent_p.I127I|POLD2_uc003tkf.3_Silent_p.I127I	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	127					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						CATCTGGGTGTATGTATTTAC	0.522			NA											5	24					0	0	0.001168	0	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:55259515T>G	uc003tqk.2	+	21	2819	c.2573T>G	c.(2572-2574)CTG>CGG	p.L858R	EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	858	Cytoplasmic (Potential).|Protein kinase.		L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537		L858R(NCIH1975_LUNG)	8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	93					0	0	0.001855	0	0
FKBP9L	360132	broad.mit.edu	37	7	55750500	55750500	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:55750500C>T	uc010kzl.2	-	6	704	c.604G>A	c.(604-606)GCC>ACC	p.A202T	FKBP9L_uc010kzk.2_Missense_Mutation_p.A91T|FKBP9L_uc003tqt.2_Missense_Mutation_p.A91T|FKBP9L_uc011kcs.1_Missense_Mutation_p.A91T	NR_003949				SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8);												0						GCCACCTGGGCGTGAATGTAC	0.532			NA											10	38					0	0	0.001855	0	0
TRIM56	81844	broad.mit.edu	37	7	100732051	100732051	+	Silent	SNP	C	C	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:100732051C>G	uc003uxq.2	+	3	1689	c.1458C>G	c.(1456-1458)GGC>GGG	p.G486G	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	486					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGGCTCTGGCCTCCTCCCCA	0.632	Ovarian(89;1092 1379 22756 38989 39611)		NA											6	140					0	0	0.00308	0	0
LAMB1	3912	broad.mit.edu	37	7	107600230	107600230	+	Silent	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:107600230G>A	uc003vew.2	-	19	2699	c.2364C>T	c.(2362-2364)AAC>AAT	p.N788N	LAMB1_uc003vev.2_Silent_p.N812N|LAMB1_uc003vex.2_Silent_p.N788N	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	788	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGGCCTCCGTTGGGATCAC	0.562			NA											4	37					0	0	0.000602	0	0
UBN2	254048	broad.mit.edu	37	7	138943367	138943367	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr7:138943367C>T	uc011kqr.1	+	4	797	c.797C>T	c.(796-798)CCC>CTC	p.P266L	UBN2_uc003vuv.2_5'UTR	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	266	Lys-rich.									ovary(1)|skin(1)	2						CACAAGCCACCCAAGGTGAGT	0.363			NA											4	50					0	0	0.009096	0	0
DLC1	10395	broad.mit.edu	37	8	13251147	13251148	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:13251147_13251148CG>AA	uc003wwm.2	-	4	1672_1673	c.1228_1229CG>TT	c.(1228-1230)CGA>TTA	p.R410L	DLC1_uc003wwn.2_Missense_Mutation_p.R410L|DLC1_uc011kxy.1_Missense_Mutation_p.R410L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	410					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CAAATTTACTCGTGTCTGATTT	0.421			NA											9	95					0	0	0.004672	0	0
CLVS1	157807	broad.mit.edu	37	8	62289213	62289213	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:62289213C>T	uc003xuh.2	+	3	829	c.505C>T	c.(505-507)CTA>TTA	p.L169L	CLVS1_uc003xug.2_Silent_p.S167S|CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Silent_p.L169L	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	169	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						ATTGGAAGTCCTAATCGAAGA	0.443			NA											14	73					0	0	0.001855	0	0
CSMD3	114788	broad.mit.edu	37	8	113585738	113585738	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:113585738A>G	uc003ynu.2	-	24	4193	c.4034T>C	c.(4033-4035)GTG>GCG	p.V1345A	CSMD3_uc003yns.2_Missense_Mutation_p.V617A|CSMD3_uc003ynt.2_Missense_Mutation_p.V1305A|CSMD3_uc011lhx.1_Missense_Mutation_p.V1241A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1345	Extracellular (Potential).|CUB 7.					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						ACTGGTATACACAAGTTGAAA	0.368			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	64					0	0	0.008291	0	0
KLHL38	340359	broad.mit.edu	37	8	124664241	124664241	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr8:124664241G>T	uc003yqs.1	-	1	950	c.926C>A	c.(925-927)ACC>AAC	p.T309N		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	309	Kelch 1.										0						CCATTGGCCGGTCTGTTTGCT	0.577			NA											8	60					0.00307968	0.00342915	0.00308	1	0
RABEPK	10244	broad.mit.edu	37	9	127969979	127969979	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr9:127969979G>T	uc004bpi.2	+	4	363	c.190G>T	c.(190-192)GAC>TAC	p.D64Y	RABEPK_uc004bph.1_Missense_Mutation_p.D64Y|RABEPK_uc004bpj.2_Missense_Mutation_p.D64Y|RABEPK_uc004bpk.2_Missense_Mutation_p.D64Y|RABEPK_uc004bpl.1_Missense_Mutation_p.D64Y|RABEPK_uc004bpm.2_Missense_Mutation_p.D64Y	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	64	Kelch 1.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						AAGCTTCTCAGACGTGCACAC	0.522			NA											29	104					3.73148e-12	5.13896e-12	0.007291	1	0
SETX	23064	broad.mit.edu	37	9	135205442	135205442	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr9:135205442T>G	uc004cbk.2	-	10	1726	c.1543A>C	c.(1543-1545)ACA>CCA	p.T515P	SETX_uc004cbj.2_Missense_Mutation_p.T134P|SETX_uc010mzt.2_Missense_Mutation_p.T134P	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	515					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATCATTGCTGTTCCTTTGGAG	0.438			NA											14	156					0	0	0.00245	0	0
ZFX	7543	broad.mit.edu	37	X	24228471	24228471	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:24228471A>G	uc004dbf.2	+	9	1654	c.1396A>G	c.(1396-1398)AAC>GAC	p.N466D	ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Missense_Mutation_p.N505D|ZFX_uc010nfz.2_Missense_Mutation_p.N122D	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	466	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						TTACACTACCAACAAGAAGAT	0.448	Esophageal Squamous(20;306 562 7346 32868 37983)		NA											15	80					0	0	0.003163	0	0
ATRX	546	broad.mit.edu	37	X	76776888	76776888	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:76776888G>A	uc004ecp.3	-	33	7296	c.7064C>T	c.(7063-7065)TCA>TTA	p.S2355L	ATRX_uc004ecq.3_Missense_Mutation_p.S2317L|ATRX_uc004eco.3_Missense_Mutation_p.S2140L	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2355					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TACTACAGCTGAAATTATATC	0.373			NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						4	81					0	0	0.000602	0	0
COL4A5	1287	broad.mit.edu	37	X	107911555	107911555	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:107911555A>G	uc004enz.1	+	41	3813	c.3611A>G	c.(3610-3612)AAG>AGG	p.K1204R	COL4A5_uc011mso.1_Missense_Mutation_p.K1204R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1204	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						ATAGGCCAAAAGGGTGATGGA	0.448			NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				3	63					0	0	0.009096	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337280	144337280	+	Silent	SNP	C	C	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chrX:144337280C>T	uc004fcb.2	+	2	165	c.165C>T	c.(163-165)TGC>TGT	p.C55C		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	SPANX-N1 protein	55											0	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGTTTTGCTACAGGAAAG	0.433			NA											13	141					0	0	0.001855	0	0
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr12:55794772_55794773insT	uc010spl.1	+	1	460_461	c.460_461insT	c.(460-462)ATTfs	p.I154fs		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTTCTCATTATTTTTCCCCCC	0.436			NA											7	313	---	---	---	---	NA	NA	NA	NA	NA
MYL1	4632	broad.mit.edu	37	2	211179668	211179668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6835-01A-11D-1855-08	TCGA-91-6835-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8120c5eb-2917-4053-a5e5-aad53ff45da9	46fde1ad-2cea-483b-ae64-f1226a732b9a	g.chr2:211179668delG	uc002vec.2	-	1	228	c.99delC	c.(97-99)CCCfs	p.P33fs		NM_079420	NP_524144	P05976	MYL1_HUMAN	fast skeletal myosin alkali light chain 1	33					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			ovary(1)	1				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTTCTTCTTTGGGTTTggctg	0.323			NA											39	314	---	---	---	---	NA	NA	NA	NA	NA
