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
PTCHD2	57540	broad.mit.edu	37	1	11591064	11591064	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:11591064C>T	uc001ash.3	+	16	3341	c.3203C>T	c.(3202-3204)CCG>CTG	p.P1068L		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1068	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTGGTGAAGCCGGGTGGGGCC	0.622			NA											41	75					0	0	0.007835	0	0
EYA3	2140	broad.mit.edu	37	1	28316211	28316211	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:28316211G>C	uc001bpi.1	-	15	1580	c.1415C>G	c.(1414-1416)TCC>TGC	p.S472C	EYA3_uc010ofs.1_Missense_Mutation_p.S419C|EYA3_uc010oft.1_Missense_Mutation_p.S426C|EYA3_uc001bpj.2_Missense_Mutation_p.S426C|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	472					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)|skin(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TCCATACCTGGACTGGATGAG	0.423			NA											43	65					0	0	0.00361	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370403	35370403	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:35370403G>T	uc001byc.2	-	1	582	c.582C>A	c.(580-582)GAC>GAA	p.D194E		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	194					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				GCCCATTATAGTCCCGCTTCC	0.597			NA											18	22					2.94398e-08	4.16858e-08	0.007413	1	0
RLF	6018	broad.mit.edu	37	1	40705790	40705790	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:40705790A>T	uc001cfc.3	+	8	5447	c.5416A>T	c.(5416-5418)AAT>TAT	p.N1806Y	RLF_uc001cfd.3_Missense_Mutation_p.N1497Y	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1806					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ACAGTCCAGTAATGATTTAAC	0.353			NA											6	35					0	0	0.001168	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501863	45501863	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:45501863C>A	uc001cnd.2	-	9	2231	c.2003G>T	c.(2002-2004)GGC>GTC	p.G668V		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	668							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					TTGACCCAGGCCCATCAGTGC	0.567			NA											24	36					7.87624e-14	1.23456e-13	0.00278	1	0
EPS8L3	79574	broad.mit.edu	37	1	110293370	110293370	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:110293370C>T	uc001dyr.1	-	18	1827	c.1682G>A	c.(1681-1683)CGC>CAC	p.R561H	EPS8L3_uc001dys.1_Missense_Mutation_p.R531H|EPS8L3_uc001dyq.1_Missense_Mutation_p.R562H|EPS8L3_uc009wfm.1_Missense_Mutation_p.R498H	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	561						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)		AGGTCTTATGCGAAGTAGCTG	0.607			NA											16	19					0	0	0.00499	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460446	113460446	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:113460446G>A	uc001ecx.2	-	4	1414	c.582C>T	c.(580-582)CTC>CTT	p.L194L	SLC16A1_uc001ecy.2_Silent_p.L194L|SLC16A1_uc001ecz.2_Silent_p.L194L	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	194	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	TTGGTCGCATGAGGGCTCCAG	0.488			NA											29	27					0	0	0.008361	0	0
ZNF697	90874	broad.mit.edu	37	1	120165529	120165529	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:120165529C>T	uc001ehy.1	-	3	1551	c.1437G>A	c.(1435-1437)ACG>ACA	p.T479T		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	479	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCTGCGTGAGCGTGGAGAAGT	0.652			NA											10	4					0	0	0.006214	0	0
PHGDH	26227	broad.mit.edu	37	1	120266064	120266064	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:120266064G>T	uc001ehz.2	+	3	583	c.356G>T	c.(355-357)AGG>ATG	p.R119M	PHGDH_uc009whl.2_Translation_Start_Site|PHGDH_uc009whm.2_Translation_Start_Site|PHGDH_uc001eia.2_Missense_Mutation_p.R119M|PHGDH_uc009whn.2_Missense_Mutation_p.R119M|PHGDH_uc001eib.2_Missense_Mutation_p.R85M	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	119					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	TGCCTGGCCAGGTAAGTCCCT	0.473			NA											22	39					8.04996e-18	1.29801e-17	0.001882	1	0
LCE3D	84648	broad.mit.edu	37	1	152552345	152552345	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:152552345G>T	uc001fab.2	-	2	125	c.68C>A	c.(67-69)CCA>CAA	p.P23Q		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	23					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TGGGCTCTTTGGGGGACACTT	0.612			NA											8	145					0.00307968	0.00348272	0.00308	1	0
LCE2B	26239	broad.mit.edu	37	1	152659578	152659578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:152659578C>T	uc001fai.2	+	2	313	c.259C>T	c.(259-261)CAG>TAG	p.Q87*		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	87	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCCGGCACCAGAGCCCCGA	0.667			NA											45	116					0	0	0.00874	0	0
LELP1	149018	broad.mit.edu	37	1	153177365	153177365	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:153177365G>A	uc001fbl.2	+	2	292	c.182G>A	c.(181-183)TGC>TAC	p.C61Y		NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	61	Cys/Pro-rich.									ovary(1)	1	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCTGCCCTGCCCCTCGCAG	0.592			NA											25	46					0	0	0.003954	0	0
BCAN	63827	broad.mit.edu	37	1	156622210	156622210	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:156622210G>A	uc001fpp.2	+	8	1804	c.1468G>A	c.(1468-1470)GGC>AGC	p.G490S	BCAN_uc001fpo.2_Missense_Mutation_p.G490S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	490					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCAGCCCGGGCCCTGAGGC	0.463			NA											3	16					0	0	0.004672	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156912554	156912554	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:156912554A>G	uc001fqo.2	-	32	4174	c.3134T>C	c.(3133-3135)ATC>ACC	p.I1045T	ARHGEF11_uc010phu.1_Missense_Mutation_p.I461T|ARHGEF11_uc001fqn.2_Missense_Mutation_p.I1085T	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1045	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGCAGATGATGAAGAAGGC	0.537			NA											3	98					0	0	0.000248	0	0
CD1E	913	broad.mit.edu	37	1	158326366	158326366	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:158326366G>A	uc001fse.2	+	5	1222	c.983G>A	c.(982-984)CGG>CAG	p.R328Q	CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.R238Q|CD1E_uc001fsj.2_Missense_Mutation_p.R183Q|CD1E_uc001fsc.2_Missense_Mutation_p.R139Q|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.R84Q|CD1E_uc001fsf.2_Missense_Mutation_p.R328Q|CD1E_uc001fry.2_Missense_Mutation_p.R273Q|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Missense_Mutation_p.R139Q|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Missense_Mutation_p.R229Q|CD1E_uc001frz.2_Missense_Mutation_p.R238Q|CD1E_uc009wsw.2_Intron	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	328					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)					GTTGACTCACGGTTAAAAAAA	0.303			NA											6	22					0	0	0.001168	0	0
CD1E	913	broad.mit.edu	37	1	158326382	158326382	+	Splice_Site	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:158326382G>C	uc001fse.2	+	5	1237	c.998_splice	c.e5+1	p.S333_splice	CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_Splice_Site|CD1E_uc001fsk.2_Splice_Site_p.S243_splice|CD1E_uc001fsj.2_Splice_Site_p.S188_splice|CD1E_uc001fsc.2_Splice_Site_p.S144_splice|CD1E_uc010pig.1_Splice_Site|CD1E_uc001fsa.2_Splice_Site_p.S89_splice|CD1E_uc001fsf.2_Splice_Site_p.S333_splice|CD1E_uc001fry.2_Splice_Site_p.S278_splice|CD1E_uc001fsg.2_Splice_Site|CD1E_uc001fsh.2_Splice_Site_p.S144_splice|CD1E_uc001fsi.2_Splice_Site|CD1E_uc009wsv.2_Splice_Site_p.S234_splice|CD1E_uc001frz.2_Splice_Site_p.S243_splice|CD1E_uc009wsw.2_Intron	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor						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)					AAAAACAGAGGTGAGCTTTTT	0.274			NA											5	20					0	0	0.000602	0	0
SPTA1	6708	broad.mit.edu	37	1	158590209	158590209	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:158590209G>C	uc001fst.1	-	44	6367	c.6168C>G	c.(6166-6168)AAC>AAG	p.N2056K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2056	Spectrin 20.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CACACCAGTTGTTCAAAGCTG	0.458			NA											12	30					0	0	0.00245	0	0
LMX1A	4009	broad.mit.edu	37	1	165182882	165182882	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:165182882C>A	uc001gcy.1	-	4	886	c.665G>T	c.(664-666)AGG>ATG	p.R222M	LMX1A_uc001gcz.1_Missense_Mutation_p.R222M|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	222	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CTATACCTTCCTGCAGGGCTT	0.562			NA											37	104					1.90571e-15	3.02936e-15	0.004289	1	0
C1orf129	80133	broad.mit.edu	37	1	170955788	170955788	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:170955788C>A	uc001ghg.2	+	10	946	c.816C>A	c.(814-816)ATC>ATA	p.I272I	C1orf129_uc009wvy.2_Silent_p.I79I|C1orf129_uc010plz.1_Silent_p.I272I	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	272							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGATAAAATCGCATCTGATG	0.453			NA											22	55					4.35082e-09	6.3473e-09	0.001523	1	0
TNR	7143	broad.mit.edu	37	1	175365760	175365760	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:175365760G>T	uc001gkp.1	-	3	1241	c.1160C>A	c.(1159-1161)CCA>CAA	p.P387Q	TNR_uc009wwu.1_Missense_Mutation_p.P387Q|TNR_uc010pmz.1_Silent_p.A352A	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	387	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GGTGAGACCTGGCTCCAGCTC	0.592			NA											21	48					1.00905e-13	1.5743e-13	0.008871	1	0
RALGPS2	55103	broad.mit.edu	37	1	178861370	178861370	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:178861370G>T	uc001glz.2	+	15	1591	c.1253G>T	c.(1252-1254)AGA>ATA	p.R418I	RALGPS2_uc010pnb.1_Intron	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	418					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						AACAGGAACAGATTATACCAT	0.393			NA											11	28					3.07112e-06	4.07467e-06	0.000978	1	0
FAM5C	339479	broad.mit.edu	37	1	190067160	190067160	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:190067160T>C	uc001gse.1	-	8	2521	c.2289A>G	c.(2287-2289)AAA>AAG	p.K763K	FAM5C_uc010pot.1_Silent_p.K661K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	763						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					AACTACATAATTTGGTCGTGT	0.378			NA											7	89					0	0	0.004482	0	0
KDM5B	10765	broad.mit.edu	37	1	202702680	202702680	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:202702680C>T	uc001gyf.2	-	23	3874	c.3758G>A	c.(3757-3759)CGA>CAA	p.R1253Q	KDM5B_uc009xag.2_Missense_Mutation_p.R1289Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R1095Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1253					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						AATCATATATCGAAGTGCATC	0.507			NA											7	85					0	0	0.001984	0	0
TMEM81	388730	broad.mit.edu	37	1	205053413	205053413	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:205053413G>C	uc001hbt.2	-	1	176	c.36C>G	c.(34-36)AGC>AGG	p.S12R		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	transmembrane protein 81 precursor	12						integral to membrane					0	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCAACCCCAGGCTCCCAAGGA	0.507			NA											18	70					0	0	0.008871	0	0
USH2A	7399	broad.mit.edu	37	1	216390757	216390757	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:216390757A>T	uc001hku.1	-	15	3516	c.3129T>A	c.(3127-3129)GAT>GAA	p.D1043E	USH2A_uc001hkv.2_Missense_Mutation_p.D1043E	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1043	Laminin EGF-like 10.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATTGTTGACATCCAAGTGGC	0.343			NA								HNSCC(13;0.011)			9	22					0	0	0.006214	0	0
DISP1	84976	broad.mit.edu	37	1	223178804	223178804	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:223178804T>C	uc001hnu.1	+	8	4212	c.4065T>C	c.(4063-4065)TTT>TTC	p.F1355F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1355					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CTAGGAATTTTTTCCTCCACC	0.512			NA											24	48					0	0	0.00278	0	0
TARBP1	6894	broad.mit.edu	37	1	234606997	234606997	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:234606997C>T	uc001hwd.2	-	3	1036	c.1036G>A	c.(1036-1038)GTT>ATT	p.V346I		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	346					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCTTTATAACATGTATCTAA	0.279			NA											7	10					0	0	0.004482	0	0
ACTN2	88	broad.mit.edu	37	1	236902780	236902780	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:236902780T>A	uc001hyf.2	+	10	1259	c.1055T>A	c.(1054-1056)CTG>CAG	p.L352Q	ACTN2_uc001hyg.2_Missense_Mutation_p.L144Q|ACTN2_uc009xgi.1_Missense_Mutation_p.L352Q|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.L40Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	352	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGACCAAGCTGCGGATCAGC	0.607			NA											13	44					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237947539	237947539	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:237947539T>C	uc001hyl.1	+	90	12647	c.12527T>C	c.(12526-12528)GTG>GCG	p.V4176A	RYR2_uc010pya.1_Missense_Mutation_p.V591A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4176					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATATTTGACGTGGTCAACGAA	0.502			NA											27	73					0	0	0.00632	0	0
NLRP3	114548	broad.mit.edu	37	1	247593036	247593036	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:247593036G>C	uc001icr.2	+	6	2444	c.2306G>C	c.(2305-2307)GGC>GCC	p.G769A	NLRP3_uc001ics.2_Missense_Mutation_p.G769A|NLRP3_uc001icu.2_Missense_Mutation_p.G769A|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.G767A	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	769					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGCATCCTGGCTGTAACATT	0.498			NA											4	71					0	0	0.000248	0	0
OR6F1	343169	broad.mit.edu	37	1	247875407	247875407	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:247875407G>T	uc001idj.1	-	1	651	c.651C>A	c.(649-651)TCC>TCA	p.S217S		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGTACACATAGGAGACAAAGG	0.542			NA											35	63					4.31634e-10	6.40795e-10	0.002445	1	0
TAF3	83860	broad.mit.edu	37	10	8007139	8007139	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:8007139A>G	uc010qbd.1	+	3	1666	c.1666A>G	c.(1666-1668)AAG>GAG	p.K556E		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	556	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						aagtaaggagaaggataaagt	0.189			NA											12	18					0	0	0.000978	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266839	18266839	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:18266839C>A	uc001ipo.2	+	5	1033	c.760C>A	c.(760-762)CAA>AAA	p.Q254K	SLC39A12_uc001ipn.2_Missense_Mutation_p.Q254K|SLC39A12_uc001ipp.2_Missense_Mutation_p.Q254K|SLC39A12_uc010qck.1_Missense_Mutation_p.Q120K	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	254	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						AGAACTAGACCAACTCCTCAA	0.338			NA											25	100					1.5548e-18	2.51907e-18	0.005443	1	0
MAP3K8	1326	broad.mit.edu	37	10	30728114	30728114	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:30728114G>T	uc001ivi.1	+	3	943	c.247G>T	c.(247-249)GAT>TAT	p.D83Y	MAP3K8_uc009xlf.1_Missense_Mutation_p.D83Y|MAP3K8_uc001ivj.1_Missense_Mutation_p.D83Y	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	83					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				AACTGTGGAGGATTTGCTTGC	0.408			NA											19	46					5.26018e-13	8.16903e-13	0.001882	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38651210	38651210	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:38651210G>A	uc010qex.1	+	3	357	c.282G>A	c.(280-282)GGG>GGA	p.G94G	HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Silent_p.G92G					SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);												0						TAAATGCTGGGATCATGCCTA	0.363			NA											14	33					0	0	0.00245	0	0
RBP3	5949	broad.mit.edu	37	10	48388863	48388863	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:48388863G>A	uc001jez.2	-	1	2129	c.2015C>T	c.(2014-2016)GCC>GTC	p.A672V		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	672	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TGTGCGGTAGGCGCCCTGGGC	0.662			NA											14	25					0	0	0.001855	0	0
FRMPD2	143162	broad.mit.edu	37	10	49452849	49452849	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:49452849C>A	uc001jgi.2	-	4	460	c.353G>T	c.(352-354)GGG>GTG	p.G118V	FRMPD2_uc001jgh.2_Intron|FRMPD2_uc001jgj.2_Intron	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	118	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		AACATGAAACCCTGCTGACCA	0.423			NA											13	19					1.61879e-10	2.42459e-10	0.001368	1	0
GRID1	2894	broad.mit.edu	37	10	87406989	87406989	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:87406989G>C	uc001kdl.1	-	13	2264	c.2163C>G	c.(2161-2163)TGC>TGG	p.C721W	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.C292W|uc001kdm.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	721	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GACTGGACACGCAGTTGTCAG	0.617			NA								Multiple Myeloma(13;0.14)			62	214					0	0	0.00361	0	0
PLCE1	51196	broad.mit.edu	37	10	95931199	95931199	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:95931199C>T	uc001kjk.2	+	4	2389	c.1755C>T	c.(1753-1755)ACC>ACT	p.T585T	PLCE1_uc010qnx.1_Silent_p.T585T|PLCE1_uc001kjm.2_Silent_p.T277T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	585	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CGATTCTTACCACTCAGAATG	0.483			NA											24	58					0	0	0.00333	0	0
C10orf28	27291	broad.mit.edu	37	10	99968469	99968469	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:99968469G>T	uc001kow.3	+	4	893	c.598G>T	c.(598-600)GAC>TAC	p.D200Y	C10orf28_uc001kox.3_Missense_Mutation_p.D200Y|C10orf28_uc001koy.3_Missense_Mutation_p.D200Y|C10orf28_uc009xvx.2_Missense_Mutation_p.D200Y|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	200							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		AGCATTTGAAGACAAAGATTT	0.388			NA											10	33					1.76689e-08	2.5338e-08	0.006214	1	0
C10orf76	79591	broad.mit.edu	37	10	103773783	103773783	+	Splice_Site	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:103773783T>A	uc009xwy.1	-	9	772	c.670_splice	c.e9-1	p.S224_splice		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591							integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ATTCACAGACTGTTAAATAAG	0.393			NA											5	65					0	0	0.000602	0	0
GBF1	8729	broad.mit.edu	37	10	104103885	104103885	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:104103885A>T	uc001kux.1	+	4	481	c.241A>T	c.(241-243)ATC>TTC	p.I81F	GBF1_uc001kuw.2_Missense_Mutation_p.I81F|GBF1_uc001kuy.1_Missense_Mutation_p.I81F|GBF1_uc001kuz.1_Missense_Mutation_p.I81F	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	81					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACTGGCCCTATCACTGGACT	0.458			NA											46	60					0	0	0.002522	0	0
CALHM2	51063	broad.mit.edu	37	10	105209508	105209508	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:105209508G>T	uc001kwz.2	-	2	577	c.191C>A	c.(190-192)CCC>CAC	p.P64H	CALHM2_uc001kxa.2_Missense_Mutation_p.P64H|CALHM2_uc001kxc.2_Missense_Mutation_p.P64H|CALHM2_uc001kxb.2_Missense_Mutation_p.P64H|CALHM2_uc001kxd.1_Missense_Mutation_p.P64H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	64	Helical; (Potential).					integral to membrane				skin(1)	1						CACCAGGGCGGGCACGCCGAT	0.667			NA											6	75					3.59834e-05	4.47468e-05	0.001168	1	0
C10orf81	79949	broad.mit.edu	37	10	115540429	115540429	+	Silent	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:115540429C>G	uc009xyc.1	+	13	1681	c.990C>G	c.(988-990)CCC>CCG	p.P330P	C10orf81_uc001lar.1_3'UTR|C10orf81_uc001las.1_Silent_p.P330P|C10orf81_uc001lau.1_Silent_p.P246P|C10orf81_uc001lav.2_5'Flank			Q5SXH7	CJ081_HUMAN	RecName: Full=PH domain-containing protein C10orf81;	426										central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		GTATGTGTCCCTCAAAATGCC	0.453			NA											15	20					0	0	0.003163	0	0
MKI67	4288	broad.mit.edu	37	10	129913665	129913665	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:129913665C>A	uc001lke.2	-	7	1202	c.1007G>T	c.(1006-1008)AGC>ATC	p.S336I	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	336					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGAGGAAAGCTGGCGCCCAC	0.483			NA											49	61					6.08268e-21	9.95079e-21	0.00361	1	0
OR52A4	390053	broad.mit.edu	37	11	5142144	5142144	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:5142144G>T	uc001lzz.1	-	1	665	c.665C>A	c.(664-666)TCC>TAC	p.S222Y		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTGAATATAGGAGAGGGTGAT	0.373			NA											8	16					0.00307968	0.00348272	0.00308	1	0
DCHS1	8642	broad.mit.edu	37	11	6648581	6648581	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:6648581C>A	uc001mem.1	-	14	6099	c.5689G>T	c.(5689-5691)GGT>TGT	p.G1897C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1897	Cadherin 18.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGCTGTACCGGCGCCCAGG	0.607			NA											5	10					0.000602214	0.000709602	0.000602	1	0
INSC	387755	broad.mit.edu	37	11	15212246	15212246	+	Splice_Site	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:15212246G>T	uc001mly.2	+	6	767	c.721_splice	c.e6-1	p.A241_splice	INSC_uc001mlz.2_Splice_Site_p.A194_splice|INSC_uc001mma.2_Splice_Site_p.A194_splice|INSC_uc010rcs.1_Splice_Site_p.A229_splice|INSC_uc001mmb.2_Splice_Site_p.A194_splice|INSC_uc001mmc.2_Splice_Site_p.A194_splice	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a						cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						TCTCTTCTTAGGCACTGGTGA	0.512			NA											37	87					4.62619e-21	7.605e-21	0.004289	1	0
Unknown	0	broad.mit.edu	37	11	30953443	30953443	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:30953443T>A	uc009yjk.1	-	10	1185	c.1116A>T	c.(1114-1116)AAA>AAT	p.K372N	uc009yjl.1_3'UTR					RecName: Full=Doublecortin domain-containing protein 5;												NA						TACAGATGGGTTTCTTCATGG	0.413			NA											13	26					0	0	0.001368	0	0
OR4P4	81300	broad.mit.edu	37	11	55406128	55406128	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:55406128C>G	uc010rij.1	+	1	295	c.295C>G	c.(295-297)CTC>GTC	p.L99V		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	99	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TATGATACAACTCTTTACCAC	0.443			NA											16	76					0	0	0.003163	0	0
OR9G9	504191	broad.mit.edu	37	11	56468651	56468651	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:56468651C>A	uc010rjn.1	+	1	788	c.788C>A	c.(787-789)TCT>TAT	p.S263Y		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCCCCAGATCTAGCTATTCT	0.433			NA											15	178					1.3612e-06	1.82759e-06	0.003163	1	0
MEN1	4221	broad.mit.edu	37	11	64575538	64575538	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:64575538G>T	uc001obj.2	-	3	567	c.494C>A	c.(493-495)GCT>GAT	p.A165D	MEN1_uc001obk.2_Missense_Mutation_p.A165D|MEN1_uc001obl.2_Missense_Mutation_p.A160D|MEN1_uc001obm.2_Missense_Mutation_p.A160D|MEN1_uc001obn.2_Missense_Mutation_p.A165D|MEN1_uc001obo.2_Missense_Mutation_p.A165D|MEN1_uc001obp.2_Missense_Mutation_p.A160D|MEN1_uc001obq.2_Missense_Mutation_p.A165D|MEN1_uc001obr.2_Missense_Mutation_p.A165D	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	165			A -> T (in MEN1).|A -> P (in MEN1; strong decrease in JUND- binding).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						CCCAACCACAGCAAAGGCCAC	0.602	Esophageal Squamous(1;83 158 15500 18603 18803 29295)		NA	D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				8	9					1.12685e-05	1.44391e-05	0.004482	1	0
CD248	57124	broad.mit.edu	37	11	66082510	66082510	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:66082510A>G	uc001ohm.1	-	1	2006	c.1989T>C	c.(1987-1989)GCT>GCC	p.A663A		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	663	Pro-rich.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CTGCTGTGGGAGCTGGTGAGG	0.647			NA											10	76					0	0	0.006214	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259973	71259973	+	Silent	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:71259973A>T	uc001oqs.1	+	1	508	c.270A>T	c.(268-270)TCA>TCT	p.S90S		NM_005553	NP_005544	P26371	KRA59_HUMAN	keratin associated protein 5-9	90	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament					0						GTTGCTCTTCAGGCTGTGGGT	0.632			NA											140	191					0	0	0.00361	0	0
LRRC32	2615	broad.mit.edu	37	11	76372307	76372307	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:76372307C>T	uc001oxq.3	-	3	573	c.330G>A	c.(328-330)GCG>GCA	p.A110A	LRRC32_uc001oxr.3_Silent_p.A110A|LRRC32_uc010rsf.1_Silent_p.A110A	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	110	LRR 3.|Extracellular (Potential).					integral to plasma membrane					0						CAGTGGCCATCGCCAGCCGGT	0.672			NA											23	99					0	0	0.001882	0	0
KCTD14	65987	broad.mit.edu	37	11	77727957	77727957	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:77727957C>A	uc001oyw.3	-	2	475	c.450G>T	c.(448-450)GAG>GAT	p.E150D		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	150						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GCACCATGAGCTCCAGGTTCT	0.552	NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)		NA											5	124					1.23904e-05	1.57568e-05	0.000602	1	0
GRM5	2915	broad.mit.edu	37	11	88337921	88337921	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:88337921C>A	uc001pcq.2	-	4	1559	c.1359G>T	c.(1357-1359)ACG>ACT	p.T453T	GRM5_uc009yvm.2_Silent_p.T453T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	453	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGAATAGGATCGTATCTCCAG	0.443			NA											26	21					7.92952e-12	1.21466e-11	0.003954	1	0
GRM5	2915	broad.mit.edu	37	11	88338052	88338052	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:88338052C>A	uc001pcq.2	-	4	1428	c.1228G>T	c.(1228-1230)GGG>TGG	p.G410W	GRM5_uc009yvm.2_Missense_Mutation_p.G410W	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	410	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTGTGGAGCCCATAGGCCATC	0.463			NA											38	30					2.75727e-19	4.48889e-19	0.004878	1	0
FAT3	120114	broad.mit.edu	37	11	92534237	92534237	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:92534237A>G	uc001pdj.3	+	9	8075	c.8058A>G	c.(8056-8058)CCA>CCG	p.P2686P		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2686	Cadherin 24.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGCATCCCAGTAAAGCACT	0.458			NA								TCGA Ovarian(4;0.039)			3	31					0	0	0.004672	0	0
DDI1	414301	broad.mit.edu	37	11	103907872	103907872	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:103907872C>G	uc001phr.2	+	1	565	c.322C>G	c.(322-324)CGT>GGT	p.R108G	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	108					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTCCAGCTCCCGTCCACAGCA	0.667			NA											47	45					0	0	0.00361	0	0
SNX19	399979	broad.mit.edu	37	11	130784585	130784585	+	Missense_Mutation	SNP	T	T	A	rs138524806	byFrequency	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:130784585T>A	uc001qgk.3	-	1	1798	c.1250A>T	c.(1249-1251)GAG>GTG	p.E417V	SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E417V|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	417					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TTCAGATGCCTCACCATCTTT	0.552			NA											9	17					0	0	0.000978	0	0
IGSF9B	22997	broad.mit.edu	37	11	133807324	133807324	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr11:133807324C>G	uc001qgx.3	-	5	857	c.626G>C	c.(625-627)CGA>CCA	p.R209P	IGSF9B_uc001qgy.1_Missense_Mutation_p.R51P	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	209	Ig-like 2.|Extracellular (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGTACGCTCGGCAGGTGTA	0.617			NA											10	8					0	0	0.001368	0	0
NTF3	4908	broad.mit.edu	37	12	5604005	5604005	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:5604005G>T	uc001qnl.3	+	1	708	c.625G>T	c.(625-627)GAT>TAT	p.D209Y	NTF3_uc001qnk.3_Missense_Mutation_p.D222Y	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	209					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						CAGGGGTATTGATGATAAACA	0.488	GBM(194;1104 2182 8339 9578 18493)		NA											4	54					0.000602214	0.000709602	0.000602	1	0
NCAPD2	9918	broad.mit.edu	37	12	6624087	6624087	+	Splice_Site	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:6624087G>A	uc001qoo.2	+	9	1033	c.987_splice	c.e9+1	p.E329_splice	NCAPD2_uc009zen.1_Splice_Site_p.E201_splice|NCAPD2_uc010sfd.1_Splice_Site_p.E284_splice	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2						cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GGATGGAGAAGTAGGTGGTCC	0.458			NA											29	49					0	0	0.002445	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:25398285C>A	uc001rgp.1	-	2	215	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			8	8					5.4927e-09	7.97862e-09	0.004482	1	0
TMEM117	84216	broad.mit.edu	37	12	44781917	44781917	+	Missense_Mutation	SNP	C	C	T	rs141562455		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:44781917C>T	uc001rod.2	+	8	1073	c.1007C>T	c.(1006-1008)CCG>CTG	p.P336L	TMEM117_uc001roe.2_Missense_Mutation_p.P232L|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	336						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATATCGGCCCGGGGCAGAAG	0.378			NA											4	32					0	0	0.000248	0	0
WNT10B	7480	broad.mit.edu	37	12	49359933	49359933	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:49359933C>A	uc001rss.2	-	5	1461	c.1115G>T	c.(1114-1116)TGC>TTC	p.C372F	WNT10B_uc001rst.2_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	372					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						CAGCACATAGCAGCACCAGTG	0.592			NA											18	53					9.7654e-05	0.000118807	0.007413	1	0
MLL2	8085	broad.mit.edu	37	12	49444044	49444044	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:49444044G>A	uc001rta.3	-	11	3327	c.3327C>T	c.(3325-3327)GCC>GCT	p.A1109A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1109	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCAGGGCTGGGGCAGGGCTGG	0.622			NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			3	19					0	0	0.000248	0	0
MMP19	4327	broad.mit.edu	37	12	56236185	56236185	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:56236185A>G	uc001sib.2	-	2	246	c.125T>C	c.(124-126)CTA>CCA	p.L42P	MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Missense_Mutation_p.L42P	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	42					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1						AGATCCTTCTAGAGGCTTCTG	0.453			NA											7	110					0	0	0.004482	0	0
NUP107	57122	broad.mit.edu	37	12	69115750	69115750	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:69115750G>C	uc001suf.2	+	16	1556	c.1441G>C	c.(1441-1443)GAA>CAA	p.E481Q	NUP107_uc001sug.2_Missense_Mutation_p.E328Q|NUP107_uc010stj.1_Missense_Mutation_p.E452Q	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	481					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACTCCCTAGAGAATATCTGGG	0.428			NA											24	34					0	0	0.004656	0	0
KERA	11081	broad.mit.edu	37	12	91449763	91449763	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:91449763C>G	uc001tbl.2	-	2	915	c.296G>C	c.(295-297)TGG>TCG	p.W99S		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	99	LRR 2.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						TAGATTTATCCATCTTAGCTG	0.368			NA											27	56					0	0	0.003954	0	0
SSH1	54434	broad.mit.edu	37	12	109182463	109182463	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:109182463C>T	uc001tnm.2	-	15	2538	c.2451G>A	c.(2449-2451)CAG>CAA	p.Q817Q	SSH1_uc001tnl.2_Silent_p.Q505Q	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	817					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						AGCCTGCCTTCTGCAGCTGAA	0.587			NA											10	71					0	0	0.008291	0	0
OAS2	4939	broad.mit.edu	37	12	113445593	113445593	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:113445593G>T	uc001tuj.2	+	9	1880	c.1740G>T	c.(1738-1740)GGG>GGT	p.G580G	OAS2_uc001tui.1_Silent_p.G580G	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	580	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						GGGAGCAGGGGAGTGGAGTGC	0.517	Pancreas(199;709 2232 18410 33584 35052)		NA											8	126					1.12685e-05	1.44391e-05	0.004482	1	0
RNFT2	84900	broad.mit.edu	37	12	117271635	117271635	+	Silent	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:117271635G>C	uc009zwn.2	+	8	1154	c.921G>C	c.(919-921)CTG>CTC	p.L307L	RNFT2_uc001twb.3_Silent_p.L307L|RNFT2_uc001twa.3_Silent_p.L217L|RNFT2_uc001twc.3_Silent_p.L55L	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	transmembrane protein 118 isoform 1	307	Cytoplasmic (Potential).					integral to membrane	zinc ion binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TGAGCCAGCTGTTCCGATCCC	0.498			NA											19	29					0	0	0.008871	0	0
ANAPC5	51433	broad.mit.edu	37	12	121758194	121758194	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr12:121758194G>A	uc001uag.2	-	12	1631	c.1509C>T	c.(1507-1509)CAC>CAT	p.H503H	ANAPC5_uc010szu.1_Silent_p.H169H|ANAPC5_uc001uae.2_Silent_p.H67H|ANAPC5_uc010szv.1_Silent_p.H105H|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Silent_p.H391H|ANAPC5_uc001uai.1_Silent_p.H105H	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	503					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTACCTGGGCGTGCTGACTAT	0.353			NA											6	44					0	0	0.001984	0	0
RNF17	56163	broad.mit.edu	37	13	25433215	25433215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr13:25433215G>A	uc001upr.2	+	26	3728	c.3687G>A	c.(3685-3687)TGG>TGA	p.W1229*	RNF17_uc010tdd.1_Nonsense_Mutation_p.W1088*|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Nonsense_Mutation_p.W1225*|RNF17_uc001ups.2_Nonsense_Mutation_p.W1168*|RNF17_uc010aac.2_Nonsense_Mutation_p.W427*|RNF17_uc010aad.2_Nonsense_Mutation_p.W281*	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1229	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTATTTCTGGAAAAAAGGAG	0.373			NA											6	32					0	0	0.001168	0	0
SMAD9	4093	broad.mit.edu	37	13	37427691	37427691	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr13:37427691C>A	uc001uvw.2	-	6	1468	c.1125G>T	c.(1123-1125)AAG>AAT	p.K375N	SMAD9_uc001uvx.2_Missense_Mutation_p.K338N|SMAD9_uc010tep.1_Missense_Mutation_p.K168N	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	375	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CGCTGGGGATCTTGCAGACGG	0.567			NA											13	34					4.3838e-07	5.95702e-07	0.001855	1	0
MYCBP2	23077	broad.mit.edu	37	13	77831856	77831856	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr13:77831856T>C	uc001vkf.2	-	15	2103	c.2012A>G	c.(2011-2013)AAT>AGT	p.N671S	MYCBP2_uc010aev.2_Missense_Mutation_p.N75S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	671	RCC1 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGTCCTTTATTATTTACACC	0.383			NA											48	79					0	0	0.00361	0	0
RNF113B	140432	broad.mit.edu	37	13	98829015	98829015	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr13:98829015G>C	uc001vnk.2	-	1	507	c.476C>G	c.(475-477)CCC>CGC	p.P159R	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	159							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGTGTCCTTGGGCTTCAGGTA	0.647			NA											19	54					0	0	0.006122	0	0
OR4K2	390431	broad.mit.edu	37	14	20345265	20345265	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:20345265C>A	uc001vwh.1	+	1	839	c.839C>A	c.(838-840)CCC>CAC	p.P280H		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTTTACTCCCACTCTGAAC	0.378			NA											29	56					8.58068e-18	1.377e-17	0.007291	1	0
SLC7A8	23428	broad.mit.edu	37	14	23598917	23598917	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:23598917G>A	uc001wiz.2	-	9	1931	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	SLC7A8_uc001wiw.2_Missense_Mutation_p.T19M|SLC7A8_uc001wix.2_Missense_Mutation_p.T199M|SLC7A8_uc010tnk.1_Missense_Mutation_p.T178M|SLC7A8_uc010tnl.1_Missense_Mutation_p.T297M|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Intron	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	402	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TCCAGCAACCGTGACCCCATA	0.542			NA											22	149					0	0	0.00278	0	0
MYH7	4625	broad.mit.edu	37	14	23884616	23884616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:23884616C>A	uc001wjx.2	-	36	5363	c.5257G>T	c.(5257-5259)GAG>TAG	p.E1753*		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1753	Potential.		E -> K (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGGCCTTCTCCTCAGCATTC	0.577			NA											51	81					3.10996e-30	5.32009e-30	0.00361	1	0
SLC8A3	6547	broad.mit.edu	37	14	70634870	70634870	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:70634870C>T	uc001xly.2	-	2	1024	c.270G>A	c.(268-270)GGG>GGA	p.G90G	SLC8A3_uc001xlw.2_Silent_p.G90G|SLC8A3_uc001xlx.2_Silent_p.G90G|SLC8A3_uc001xlz.2_Silent_p.G90G|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	90	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGATGGACACCCCAAGGAACA	0.488			NA											4	41					0	0	0.000248	0	0
EML5	161436	broad.mit.edu	37	14	89087624	89087624	+	Silent	SNP	T	T	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:89087624T>G	uc001xxg.2	-	38	5221	c.5035A>C	c.(5035-5037)AGG>CGG	p.R1679R	EML5_uc001xxf.2_Silent_p.R466R|EML5_uc001xxd.2_5'Flank|EML5_uc001xxe.2_Silent_p.R28R	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1671						cytoplasm|microtubule				ovary(3)	3						TCAGCATTCCTTGTCCCAACA	0.398			NA											51	73					0	0	0.00361	0	0
FAM181A	90050	broad.mit.edu	37	14	94394694	94394694	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr14:94394694C>T	uc001ybz.1	+	3	556	c.249C>T	c.(247-249)ATC>ATT	p.I83I	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.I21I|FAM181A_uc001yca.1_Silent_p.I21I	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	83											0						CCAGCGACATCAAGGCAGCCC	0.597			NA											12	37					0	0	0.001368	0	0
OCA2	4948	broad.mit.edu	37	15	28231765	28231765	+	Missense_Mutation	SNP	C	C	G	rs140703213		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:28231765C>G	uc001zbh.3	-	12	1317	c.1207G>C	c.(1207-1209)GAA>CAA	p.E403Q	OCA2_uc010ayv.2_Missense_Mutation_p.E379Q	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	403	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AATCCCGTTTCTGAAAATATG	0.313			NA							Oculocutaneous_Albinism				34	61					0	0	0.00623	0	0
RYR3	6263	broad.mit.edu	37	15	33962744	33962744	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:33962744G>A	uc001zhi.2	+	38	5917	c.5847G>A	c.(5845-5847)GAG>GAA	p.E1949E	RYR3_uc010bar.2_Silent_p.E1949E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1949	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGAGGAGGAGGAGAGATGCC	0.403			NA											23	55					0	0	0.003954	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546597	34546597	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:34546597G>A	uc001zhw.2	-	8	1234	c.1070C>T	c.(1069-1071)GCC>GTC	p.A357V	SLC12A6_uc001zhv.2_Missense_Mutation_p.A306V|SLC12A6_uc001zhx.2_Missense_Mutation_p.A342V|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.A298V|SLC12A6_uc001zib.2_Missense_Mutation_p.A348V|SLC12A6_uc001zic.2_Missense_Mutation_p.A357V|SLC12A6_uc010bau.2_Missense_Mutation_p.A357V|SLC12A6_uc001zid.2_Missense_Mutation_p.A298V|SLC12A6_uc001zhu.2_Missense_Mutation_p.A169V	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	357	Helical; (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCATAGATGGCCAAGATGGA	0.458			NA											27	42					0	0	0.004656	0	0
ZFP106	64397	broad.mit.edu	37	15	42714782	42714782	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:42714782G>A	uc001zpw.2	-	15	5556	c.5221C>T	c.(5221-5223)CAT>TAT	p.H1741Y	ZFP106_uc001zpu.2_Missense_Mutation_p.H839Y|ZFP106_uc001zpv.2_Missense_Mutation_p.H926Y|ZFP106_uc001zpx.2_Missense_Mutation_p.H969Y	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1741	WD 5.					nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GTCACTGCATGATTGTGACCT	0.418			NA											14	31					0	0	0.001855	0	0
GABPB1	2553	broad.mit.edu	37	15	50595319	50595319	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:50595319T>C	uc001zyb.2	-	4	702	c.278A>G	c.(277-279)CAT>CGT	p.H93R	GABPB1_uc001zya.2_Missense_Mutation_p.H93R|GABPB1_uc010ufg.1_Missense_Mutation_p.H17R|GABPB1_uc001zyc.2_Missense_Mutation_p.H93R|GABPB1_uc001zyd.2_Missense_Mutation_p.H93R|GABPB1_uc001zye.2_Missense_Mutation_p.H93R|GABPB1_uc001zyf.2_Missense_Mutation_p.H93R	NM_005254	NP_005245	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta	93	ANK 3.				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)	1						ATCAGCACCATGCTACAAAAA	0.318			NA											17	16					0	0	0.006122	0	0
PAQR5	54852	broad.mit.edu	37	15	69692415	69692415	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:69692415C>T	uc002arz.2	+	8	1090	c.712C>T	c.(712-714)CTG>TTG	p.L238L	PAQR5_uc002asa.2_Silent_p.L238L	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	238	Extracellular (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			ovary(2)	2						CTCTGCACATCTGCCAGAACG	0.567			NA											19	136					0	0	0.007413	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74364587	74364587	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:74364587G>T	uc002axa.1	-	14	1606	c.1565C>A	c.(1564-1566)CCA>CAA	p.P522Q	uc010ulg.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	522	Potential.										0						CAGGTCCTCTGGGATGTTTGG	0.637			NA											6	146					3.99206e-14	6.28656e-14	0.007413	1	0
CHRNB4	1143	broad.mit.edu	37	15	78921352	78921352	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:78921352C>T	uc002bed.1	-	5	1407	c.1295G>A	c.(1294-1296)AGC>AAC	p.S432N	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.S250N	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	432	Cytoplasmic (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GGCGATGAAGCTGACACCTTC	0.572			NA											14	39					0	0	0.001855	0	0
AKAP13	11214	broad.mit.edu	37	15	86122780	86122780	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:86122780G>T	uc002blv.1	+	7	1651	c.1481G>T	c.(1480-1482)TGG>TTG	p.W494L	AKAP13_uc002blt.1_Missense_Mutation_p.W494L|AKAP13_uc002blu.1_Missense_Mutation_p.W494L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	494	RII-binding.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GCCACTGTTTGGAAGAATGTG	0.488	Melanoma(94;603 1453 3280 32295 32951)		NA											32	53					3.57733e-08	5.04418e-08	0.001786	1	0
AGBL1	123624	broad.mit.edu	37	15	86702217	86702217	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:86702217G>C	uc002blz.1	+	4	390	c.310G>C	c.(310-312)GTT>CTT	p.V104L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	104					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GCTTTTCAAGGTTATTACTCC	0.448			NA											27	72					0	0	0.004656	0	0
ACAN	176	broad.mit.edu	37	15	89398733	89398733	+	Missense_Mutation	SNP	C	C	A	rs141525827	by1000genomes	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:89398733C>A	uc010upo.1	+	12	3291	c.2917C>A	c.(2917-2919)CTC>ATC	p.L973I	ACAN_uc010upp.1_Missense_Mutation_p.L973I|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	973					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGAGACCTCAGTGGGCT	0.557			NA											100	186					6.51614e-51	1.14971e-50	0.00361	1	0
LRRC28	123355	broad.mit.edu	37	15	99828072	99828072	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:99828072G>A	uc002bva.1	+	5	456	c.301G>A	c.(301-303)GAA>AAA	p.E101K	LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Missense_Mutation_p.E101K|LRRC28_uc010uru.1_Missense_Mutation_p.E101K|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	101	LRR 4.										0	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CAATGCCTTAGAAATTGTTTG	0.388			NA											17	53					0	0	0.00499	0	0
LRRC28	123355	broad.mit.edu	37	15	99828097	99828097	+	Missense_Mutation	SNP	G	G	T	rs146950856	byFrequency	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr15:99828097G>T	uc002bva.1	+	5	481	c.326G>T	c.(325-327)CGT>CTT	p.R109L	LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Missense_Mutation_p.R109L|LRRC28_uc010uru.1_Missense_Mutation_p.R109L|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	109	LRR 4.										0	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GAAATTGGTCGTCTGAGAGCT	0.398			NA											12	50					7.03913e-09	1.01811e-08	0.001368	1	0
HBA2	3040	broad.mit.edu	37	16	223583	223583	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:223583C>T	uc002cfv.3	+	3	479	c.413C>T	c.(412-414)ACC>ATC	p.T138I	HBA2_uc002cfw.2_Intron	NM_000517	NP_000508	P69905	HBA_HUMAN	alpha 2 globin	138					hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding				0		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	ACCGTGCTGACCTCCAAATAC	0.677	GBM(107;1340 2104 14383 27419)		NA									OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	28					0	0	0.008291	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923360	9923360	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:9923360C>T	uc002czo.3	-	9	2475	c.1927G>A	c.(1927-1929)GCT>ACT	p.A643T	GRIN2A_uc010uym.1_Missense_Mutation_p.A643T|GRIN2A_uc010uyn.1_Missense_Mutation_p.A486T|GRIN2A_uc002czr.3_Missense_Mutation_p.A643T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	643	Helical; (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGTAGCTAGCCAGGAATATG	0.507			NA											18	52					0	0	0.006122	0	0
XYLT1	64131	broad.mit.edu	37	16	17294340	17294340	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:17294340T>G	uc002dfa.2	-	4	1170	c.1085A>C	c.(1084-1086)AAG>ACG	p.K362T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	362	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GCCTCTCACCTTGTCCACGTG	0.582			NA											6	89					0	0	0.001168	0	0
SLC7A5P2	387254	broad.mit.edu	37	16	21531505	21531505	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:21531505A>C	uc002djd.2	-	1	261	c.182T>G	c.(181-183)GTC>GGC	p.V61G	uc002diq.3_Intron|LOC100271836_uc002dja.2_RNA|LOC100271836_uc002djb.2_RNA	NR_002594				RecName: Full=Putative L-type amino acid transporter 1-like protein MLAS; AltName: Full=hLAT1 3-transmembrane protein MLAS;          Short=hLAT1 3TM MLAS;												0						CATGATGGCGACCACGATGAC	0.736			NA											5	47					0	0	0.001984	0	0
ZNF629	23361	broad.mit.edu	37	16	30793208	30793208	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:30793208C>A	uc002dzs.1	-	3	2649	c.2441G>T	c.(2440-2442)GGT>GTT	p.G814V		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CTCGCCCTCACCTTCCTGATC	0.612			NA											37	86					2.51541e-25	4.23847e-25	0.004878	1	0
ZNF423	23090	broad.mit.edu	37	16	49671140	49671140	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:49671140G>C	uc002efs.2	-	5	2221	c.1923C>G	c.(1921-1923)TTC>TTG	p.F641L	ZNF423_uc010vgn.1_Missense_Mutation_p.F524L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	641	C2H2-type 14.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CAAAGTTGGAGAACTTGAGGT	0.582			NA											4	44					0	0	0.000602	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416636	57416636	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr16:57416636A>T	uc002eli.2	+	3	953	c.886A>T	c.(886-888)ACC>TCC	p.T296S		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	296	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						CTCAGAAGGGACCCCCAGCAG	0.657			NA											7	67					0	0	0.004482	0	0
GEMIN4	50628	broad.mit.edu	37	17	650493	650493	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:650493C>T	uc002frs.1	-	2	909	c.790G>A	c.(790-792)GTG>ATG	p.V264M	GEMIN4_uc010vqa.1_Silent_p.P176P	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	264					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCCAGATACACGGTTGCAGAC	0.612			NA											6	178					0	0	0.001168	0	0
DERL2	51009	broad.mit.edu	37	17	5389496	5389496	+	Splice_Site	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:5389496C>A	uc002gcc.1	-	1	4	c.-12_splice	c.e1-1		MIS12_uc002gcd.2_5'Flank|MIS12_uc002gce.2_5'Flank	NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Der1-like domain family, member 2						endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding				0						CCCACCGTCGCCTGCCCCACC	0.592			NA											4	2					0.000602214	0.000709602	0.000602	1	0
MYH2	4620	broad.mit.edu	37	17	10427153	10427153	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:10427153G>T	uc010coi.2	-	36	5352	c.5224C>A	c.(5224-5226)CAA>AAA	p.Q1742K	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1742K|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1742	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CCTTGCATTTGGGAAATATCT	0.423			NA											5	79					0.00116845	0.00135315	0.001168	1	0
MYH2	4620	broad.mit.edu	37	17	10432354	10432354	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:10432354C>A	uc010coi.2	-	27	3525	c.3397G>T	c.(3397-3399)GCC>TCC	p.A1133S	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1133S|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1133	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GCCCGGGAGGCCCGCTCTGCC	0.602			NA											17	60					8.10497e-08	1.13335e-07	0.001523	1	0
MYH3	4621	broad.mit.edu	37	17	10536009	10536009	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:10536009C>A	uc002gmq.1	-	33	4817	c.4740G>T	c.(4738-4740)AAG>AAT	p.K1580N		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1580	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCTCTTCATCCTTCTCGGCGA	0.498			NA											13	216					5.50884e-06	7.19565e-06	0.001368	1	0
CCDC144A	9720	broad.mit.edu	37	17	16593728	16593728	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:16593728G>T	uc002gqk.1	+	1	90	c.14G>T	c.(13-15)GGT>GTT	p.G5V		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	5											0						GCCTCCTGGGGTGGAGAAAAG	0.642			NA											5	15					5.9392e-07	8.03819e-07	0.001168	1	0
KIAA0100	9703	broad.mit.edu	37	17	26966412	26966412	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:26966412C>T	uc002hbu.2	-	11	1249	c.1150G>A	c.(1150-1152)GAA>AAA	p.E384K	KIAA0100_uc002hbv.2_Missense_Mutation_p.E384K	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	384						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TGAGAGAATTCCTGGTGCCGG	0.478			NA											20	31					0	0	0.007413	0	0
CCL23	6368	broad.mit.edu	37	17	34340812	34340812	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:34340812T>A	uc002hkt.1	-	3	294	c.223A>T	c.(223-225)AAC>TAC	p.N75Y	CCL23_uc002hks.1_Missense_Mutation_p.N92Y	NM_145898	NP_665905	P55773	CCL23_HUMAN	small inducible cytokine A23 isoform CKbeta8	75					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	CACTCGCTGTTCGTTTCAAAG	0.522			NA											20	22					0	0	0.007413	0	0
PLXDC1	57125	broad.mit.edu	37	17	37296019	37296019	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:37296019G>C	uc002hrg.2	-	2	355	c.143C>G	c.(142-144)GCC>GGC	p.A48G	PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	48	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						GCTCTCTCGGGCTCTCCGGTT	0.662			NA											33	38					0	0	0.003755	0	0
BZRAP1	9256	broad.mit.edu	37	17	56400737	56400737	+	Silent	SNP	C	C	A	rs140181266		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:56400737C>A	uc002ivx.3	-	7	1897	c.1026G>T	c.(1024-1026)TCG>TCT	p.S342S	BZRAP1_uc010dcs.2_Silent_p.S282S|BZRAP1_uc010wnt.1_Silent_p.S342S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	342						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTGAGCTCCGATTCCTGAG	0.582			NA											13	153					4.3838e-07	5.95702e-07	0.001855	1	0
FASN	2194	broad.mit.edu	37	17	80042140	80042140	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:80042140G>A	uc002kdu.2	-	28	5006	c.4889C>T	c.(4888-4890)CCG>CTG	p.P1630L	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1630					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAGGAAGTCCGGTGACAGCAG	0.652	Colon(59;314 1043 11189 28578 32273)		NA											9	11					0	0	0.004482	0	0
FASN	2194	broad.mit.edu	37	17	80051597	80051597	+	Missense_Mutation	SNP	C	C	A	rs145409565		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr17:80051597C>A	uc002kdu.2	-	4	448	c.331G>T	c.(331-333)GTG>TTG	p.V111L		NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	111	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAGCCGCTCACGCCCACCCAG	0.662	Colon(59;314 1043 11189 28578 32273)		NA											23	61					1.96895e-08	2.81159e-08	0.00278	1	0
RBBP8	5932	broad.mit.edu	37	18	20572830	20572830	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr18:20572830C>T	uc002ktw.2	+	11	1371	c.1040C>T	c.(1039-1041)TCC>TTC	p.S347F	RBBP8_uc002kty.2_Missense_Mutation_p.S347F|RBBP8_uc002ktz.2_Missense_Mutation_p.S347F|RBBP8_uc002kua.2_Missense_Mutation_p.S347F|RBBP8_uc002ktx.1_Missense_Mutation_p.S347F	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	347					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ACAAGTTTGTCCCCTTCTCTT	0.358			NA						Direct_reversal_of_damage|Homologous_recombination					15	40					0	0	0.004007	0	0
ASXL3	80816	broad.mit.edu	37	18	31323767	31323767	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr18:31323767G>T	uc010dmg.1	+	12	4010	c.3955G>T	c.(3955-3957)GAT>TAT	p.D1319Y	ASXL3_uc002kxq.2_Missense_Mutation_p.D1026Y	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1319	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AAGCTCCATGGATGATAAGCA	0.453			NA											72	132					4.38816e-42	7.70214e-42	0.00361	1	0
FHOD3	80206	broad.mit.edu	37	18	34298499	34298499	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr18:34298499A>G	uc002kzt.1	+	15	2759	c.2662A>G	c.(2662-2664)ACT>GCT	p.T888A	FHOD3_uc002kzs.1_Missense_Mutation_p.T905A|FHOD3_uc010dmz.1_Missense_Mutation_p.T620A|FHOD3_uc010dna.1_Missense_Mutation_p.T208A	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	888	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCCCACATTCACTAAGAAAAA	0.507			NA											25	74					0	0	0.003954	0	0
CDH19	28513	broad.mit.edu	37	18	64202248	64202248	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr18:64202248G>T	uc002lkc.1	-	8	1449	c.1311C>A	c.(1309-1311)AAC>AAA	p.N437K	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.N437K|CDH19_uc002lkd.2_Missense_Mutation_p.N437K	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	437	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				TAATACTTAGGTTGTACCAAG	0.328			NA											21	36					8.10497e-08	1.13335e-07	0.001523	1	0
C3	718	broad.mit.edu	37	19	6712321	6712321	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:6712321C>G	uc002mfm.2	-	11	1278	c.1216G>C	c.(1216-1218)GTG>CTG	p.V406L		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	406					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGTTTGGCCACGCCATCTCCC	0.617			NA											25	19					0	0	0.00333	0	0
PDE4A	5141	broad.mit.edu	37	19	10577915	10577915	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:10577915C>T	uc002moj.2	+	15	2387	c.2279C>T	c.(2278-2280)TCG>TTG	p.S760L	PDE4A_uc002mok.2_Missense_Mutation_p.S734L|PDE4A_uc002mol.2_Missense_Mutation_p.S699L|PDE4A_uc002mom.2_Missense_Mutation_p.S521L|PDE4A_uc002mon.2_Missense_Mutation_p.S215L|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	760					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GCCCAGGAGTCGTTGGAAGTT	0.607			NA											5	58					0	0	0.000602	0	0
SMARCA4	6597	broad.mit.edu	37	19	11141507	11141507	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:11141507G>T	uc002mqf.3	+	25	3768	c.3484G>T	c.(3484-3486)GGC>TGC	p.G1162C	SMARCA4_uc010dxp.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxo.2_Missense_Mutation_p.G1162C|SMARCA4_uc002mqg.1_Missense_Mutation_p.G1162C|SMARCA4_uc010dxq.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxr.2_Missense_Mutation_p.G1162C|SMARCA4_uc002mqj.3_Missense_Mutation_p.G1162C|SMARCA4_uc010dxs.2_Missense_Mutation_p.G1162C|SMARCA4_uc010dxt.1_Missense_Mutation_p.G382C|SMARCA4_uc002mqh.3_Missense_Mutation_p.G285C|SMARCA4_uc002mqi.1_Missense_Mutation_p.G365C	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1162	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607			NA	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				11	8					3.86212e-05	4.76752e-05	0.008291	1	0
FAM129C	199786	broad.mit.edu	37	19	17653058	17653058	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:17653058G>T	uc010xpr.1	+	11	1515	c.1377G>T	c.(1375-1377)CTG>CTT	p.L459L	FAM129C_uc010xpq.1_Silent_p.L459L|FAM129C_uc002ngy.3_Silent_p.L185L|FAM129C_uc010xpu.1_Silent_p.L185L|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Silent_p.L185L|FAM129C_uc002nhb.2_Silent_p.L58L	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	459											0						TTGGCTTTCTGGGGATGCAGA	0.607			NA											14	130					1.49906e-05	1.89207e-05	0.00245	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36279099	36279099	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:36279099G>A	uc002obs.1	+	21	3234	c.3149G>A	c.(3148-3150)CGG>CAG	p.R1050Q	ARHGAP33_uc002obt.1_Missense_Mutation_p.R1047Q|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R799Q	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1211					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CAGAAACAACGGGCACCCTGG	0.697			NA											5	75					0	0	0.001168	0	0
CLIP3	25999	broad.mit.edu	37	19	36508329	36508329	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:36508329G>T	uc010eeq.1	-	11	1757	c.1475C>A	c.(1474-1476)CCC>CAC	p.P492H	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.P492H	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	492	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGTCCCCGGGGGAATCAGT	0.572			NA											5	75					0.000602214	0.000709602	0.000602	1	0
IL28B	282617	broad.mit.edu	37	19	39734506	39734506	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:39734506G>T	uc010xut.1	-	4	454	c.450C>A	c.(448-450)CGC>CGA	p.R150R	IL28B_uc010xuu.1_Silent_p.R150R	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	150					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AATGGTGGAGGCGGCCCCGGG	0.692			NA											22	91					2.98393e-07	4.08774e-07	0.00278	1	0
IL28B	282617	broad.mit.edu	37	19	39735475	39735475	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:39735475G>A	uc010xut.1	-	1	137	c.133C>T	c.(133-135)CTG>TTG	p.L45L	IL28B_uc010xuu.1_Silent_p.L45L	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	45					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTGGAGACAGGGACTTGAAC	0.632			NA											17	38					0	0	0.006122	0	0
ZNF226	7769	broad.mit.edu	37	19	44680673	44680673	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:44680673A>G	uc002oyp.2	+	6	1402	c.1258A>G	c.(1258-1260)AAA>GAA	p.K420E	ZNF226_uc002oyq.2_Missense_Mutation_p.K303E|ZNF226_uc002oyr.2_Missense_Mutation_p.K303E|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.K420E|ZNF226_uc002oyt.2_Missense_Mutation_p.K420E	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	420	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				GAAACCATACAAATGTGAGGA	0.418	Pancreas(115;581 1665 13228 19278 50070)		NA											24	48					0	0	0.002299	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183951	48183951	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:48183951G>T	uc002phh.3	+	6	1718	c.1524G>T	c.(1522-1524)CAG>CAT	p.Q508H	GLTSCR1_uc002phi.3_Missense_Mutation_p.Q266H	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	508							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CAGGTGGACAGCTCATCGCGA	0.731			NA											27	27					3.65163e-15	5.77746e-15	0.00632	1	0
NLRP12	91662	broad.mit.edu	37	19	54312855	54312855	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:54312855C>A	uc002qch.3	-	3	2278	c.2058G>T	c.(2056-2058)ACG>ACT	p.T686T	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.T686T|NLRP12_uc002qcj.3_Silent_p.T686T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.T686T	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	686					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCACCAACAGCGTGTGCGCTC	0.517			NA											6	21					8.12818e-05	9.92463e-05	0.001984	1	0
CNOT3	4849	broad.mit.edu	37	19	54656017	54656017	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:54656017T>C	uc002qdj.1	+	14	1971	c.1660T>C	c.(1660-1662)TCT>CCT	p.S554P	CNOT3_uc010yel.1_Missense_Mutation_p.S554P|CNOT3_uc002qdi.2_Missense_Mutation_p.S467P|CNOT3_uc002qdk.1_Missense_Mutation_p.S554P|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.S9P	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	554	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCCATCAGCTCTGGCATTGA	0.652			NA											22	49					0	0	0.001882	0	0
LILRA2	11027	broad.mit.edu	37	19	55085802	55085802	+	Silent	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:55085802A>T	uc002qgg.3	+	3	194	c.105A>T	c.(103-105)CCA>CCT	p.P35P	LILRA2_uc010ern.2_Silent_p.P35P|LILRA2_uc002qgf.2_Silent_p.P35P|LILRA2_uc010yfe.1_Silent_p.P35P|LILRA2_uc010yff.1_Silent_p.P23P|LILRA2_uc010ero.2_Silent_p.P23P|LILRA2_uc010yfg.1_Silent_p.P35P	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	35	Extracellular (Potential).|Ig-like C2-type 1.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GGGCTGAGCCAGGCTCTGTGA	0.547			NA											6	126					0	0	0.001168	0	0
PTPRH	5794	broad.mit.edu	37	19	55713663	55713663	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:55713663A>G	uc002qjq.2	-	6	987	c.914T>C	c.(913-915)GTG>GCG	p.V305A	PTPRH_uc010esv.2_Missense_Mutation_p.V127A|PTPRH_uc002qjs.2_Missense_Mutation_p.V312A	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	305	Extracellular (Potential).|Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGAGCCTCCACTGTCAGGTT	0.552			NA											16	43					0	0	0.00499	0	0
BRSK1	84446	broad.mit.edu	37	19	55798406	55798406	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:55798406G>T	uc002qkg.2	+	2	445	c.168G>T	c.(166-168)ACG>ACT	p.T56T	BRSK1_uc002qkf.2_Silent_p.T72T	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	56	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACTGCATCACGGGTCAGAAGG	0.637			NA											7	86					1.12685e-05	1.44391e-05	0.004482	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704114	56704114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:56704114A>T	uc010ygh.1	-	1	308	c.308T>A	c.(307-309)TTA>TAA	p.L103*		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	103	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CACCTTGACTAAGACCTGGAG	0.542			NA											7	67					0	0	0.004482	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187634	58187634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:58187634G>T	uc002qpu.2	+	3	818	c.121G>T	c.(121-123)GAG>TAG	p.E41*		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	41					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGATTTCTGAGTTCTCAAG	0.398			NA											11	33					6.40141e-05	7.84464e-05	0.000978	1	0
ZNF606	80095	broad.mit.edu	37	19	58490705	58490705	+	Missense_Mutation	SNP	C	C	G	rs138065835		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:58490705C>G	uc002qqw.2	-	7	1961	c.1343G>C	c.(1342-1344)CGG>CCG	p.R448P	ZNF606_uc010yhp.1_Missense_Mutation_p.R358P	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	448	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGTGTGAGTCCGTTCATGTTT	0.353			NA											6	22					0	0	0.001168	0	0
C2orf71	388939	broad.mit.edu	37	2	29295617	29295617	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:29295617G>T	uc002rmt.1	-	1	1511	c.1511C>A	c.(1510-1512)GCC>GAC	p.A504D		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	504					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TTCCTGCCAGGCACACAGACT	0.562			NA											31	91					2.81731e-10	4.20104e-10	0.002096	1	0
CYP26B1	56603	broad.mit.edu	37	2	72360433	72360433	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:72360433C>G	uc002sih.1	-	5	865	c.865G>C	c.(865-867)GGG>CGG	p.G289R	CYP26B1_uc010yra.1_Missense_Mutation_p.G272R|CYP26B1_uc010yrb.1_Missense_Mutation_p.G214R	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	289					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						TCCAGGGTCCCGTCCTGCAGG	0.632			NA											10	20					0	0	0.001368	0	0
CCT7	10574	broad.mit.edu	37	2	73461511	73461511	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:73461511T>A	uc002siz.2	+	1	107	c.5T>A	c.(4-6)ATG>AAG	p.M2K	C2orf7_uc002siy.2_5'Flank|CCT7_uc002sja.2_Missense_Mutation_p.M2K|CCT7_uc010yrf.1_5'UTR|CCT7_uc010feu.2_Missense_Mutation_p.M2K|CCT7_uc010yrg.1_5'UTR|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Missense_Mutation_p.M2K	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	2					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0						TCCAAAATGATGGTGAGTGGC	0.627			NA											12	21					0	0	0.000978	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530196	80530196	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:80530196C>A	uc002sok.1	-	2	1019	c.749G>T	c.(748-750)AGC>ATC	p.S250I	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	250	LRR 7.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GTCCAGCGAGCTGACCACAAT	0.592			NA								HNSCC(69;0.2)			12	58					0.000978159	0.00114857	0.000978	1	0
GPR17	2840	broad.mit.edu	37	2	128409091	128409091	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:128409091A>T	uc010yzn.1	+	4	1477	c.866A>T	c.(865-867)CAC>CTC	p.H289L	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.H289L|GPR17_uc010yzo.1_Missense_Mutation_p.H261L|GPR17_uc002tpd.2_Missense_Mutation_p.H261L	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	289	Extracellular (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TACGTGCTGCACTACCGCAGC	0.652			NA											18	33					0	0	0.00499	0	0
RAB6C	84084	broad.mit.edu	37	2	130738011	130738011	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:130738011T>C	uc002tpx.1	+	1	777	c.323T>C	c.(322-324)ATT>ACT	p.I108T	uc002tpw.1_RNA	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	108					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1	Colorectal(110;0.1)					ACAAAGTGGATTGATGATGTC	0.433			NA											21	196					0	0	0.00632	0	0
PKP4	8502	broad.mit.edu	37	2	159533379	159533379	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:159533379G>T	uc002tzv.2	+	20	3516	c.3256G>T	c.(3256-3258)GGC>TGC	p.G1086C	PKP4_uc002tzw.2_Intron|PKP4_uc002tzx.2_Missense_Mutation_p.G743C|PKP4_uc002uaa.2_Intron|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.G267C|PKP4_uc002uad.2_RNA|PKP4_uc002uae.1_Missense_Mutation_p.G173C	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	1086					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						CCTGTACCCTGGTAAGACGCC	0.517			NA								HNSCC(62;0.18)			30	42					3.69857e-22	6.13998e-22	0.008361	1	0
XIRP2	129446	broad.mit.edu	37	2	168074801	168074801	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:168074801A>G	uc002udx.2	+	4	867	c.849A>G	c.(847-849)AGA>AGG	p.R283R	XIRP2_uc010fpn.2_Silent_p.R316R|XIRP2_uc010fpo.2_Silent_p.R283R|XIRP2_uc010fpp.2_Silent_p.R283R|XIRP2_uc002udy.2_Silent_p.R108R|XIRP2_uc010fpq.2_Silent_p.R61R|XIRP2_uc010fpr.2_Silent_p.R61R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	108					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATCAGAACAGATCTGAGCAGG	0.408			NA											6	36					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179578033	179578033	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:179578033A>G	uc010zfg.1	-	90	23320	c.23096T>C	c.(23095-23097)GTT>GCT	p.V7699A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4360A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8626							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCATTACAACTGAGGAGCC	0.393			NA											4	11					0	0	0.000248	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190619958	190619958	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:190619958A>T	uc002uqz.1	-	3	1084	c.550T>A	c.(550-552)TCA>ACA	p.S184T	OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Missense_Mutation_p.S184T	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	184					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			AGAAAATCTGAAACTCCTTGA	0.348			NA											28	22					0	0	0.007291	0	0
PTH2R	5746	broad.mit.edu	37	2	209309504	209309504	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:209309504A>G	uc002vdb.2	+	7	958	c.745A>G	c.(745-747)ACA>GCA	p.T249A	PTH2R_uc010zjb.1_Missense_Mutation_p.T260A	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	249	Helical; Name=3; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CTTCCTGGCTACAAATTATTA	0.383			NA											9	120					0	0	0.006214	0	0
ERBB4	2066	broad.mit.edu	37	2	212248356	212248356	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:212248356C>A	uc002veg.1	-	28	4009	c.3911G>T	c.(3910-3912)CGG>CTG	p.R1304L	ERBB4_uc002veh.1_Missense_Mutation_p.R1288L|ERBB4_uc010zji.1_Missense_Mutation_p.R1294L|ERBB4_uc010zjj.1_Missense_Mutation_p.R1278L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1304	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACAGTATTCCGGTGTCTGTA	0.532			NA								TSP Lung(8;0.080)			12	42					7.93312e-07	1.06938e-06	0.00245	1	0
SLC11A1	6556	broad.mit.edu	37	2	219249930	219249930	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:219249930C>T	uc002vhv.2	+	4	674	c.334C>T	c.(334-336)CGT>TGT	p.R112C	SLC11A1_uc010zkb.1_Missense_Mutation_p.R112C|SLC11A1_uc010fvp.1_Missense_Mutation_p.R112C|SLC11A1_uc010fvq.1_Missense_Mutation_p.R45C|SLC11A1_uc010zkc.1_Missense_Mutation_p.R45C|SLC11A1_uc002vhu.1_Translation_Start_Site|SLC11A1_uc002vhw.2_Translation_Start_Site|SLC11A1_uc010fvr.2_5'Flank	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	112	Cytoplasmic (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGGCTGCACGTCTGGGCGT	0.642			NA											7	114					0	0	0.001984	0	0
PTPRN	5798	broad.mit.edu	37	2	220162011	220162011	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:220162011A>G	uc002vkz.2	-	14	2121	c.2032T>C	c.(2032-2034)TGG>CGG	p.W678R	PTPRN_uc010zlc.1_Missense_Mutation_p.W588R|PTPRN_uc002vla.2_Missense_Mutation_p.W649R	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	678	Cytoplasmic (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCCTCGCACCAGGACGGGGTG	0.657			NA											20	43					0	0	0.008871	0	0
GPR35	2859	broad.mit.edu	37	2	241569575	241569575	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:241569575T>G	uc002vzs.1	+	1	781	c.206T>G	c.(205-207)CTG>CGG	p.L69R	GPR35_uc010fzh.1_Missense_Mutation_p.L100R|GPR35_uc010fzi.1_Missense_Mutation_p.L100R	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	69	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GACCTCTGCCTGCTGTGCACC	0.632			NA											18	28					0	0	0.008871	0	0
SIRPD	128646	broad.mit.edu	37	20	1532359	1532360	+	Missense_Mutation	DNP	CC	CC	AA	rs141059543		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:1532359_1532360CC>AA	uc002wfi.2	-	2	442_443	c.398_399GG>TT	c.(397-399)CGG>CTT	p.R133L		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	signal-regulatory protein delta precursor	133	Ig-like V-type.					extracellular region				ovary(1)|kidney(1)|skin(1)	3						CCTGAGTGCCCCGACCTGATTG	0.421			NA											16	34					0	0	0.004672	0	0
SIRPA	140885	broad.mit.edu	37	20	1895888	1895888	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:1895888G>T	uc002wfq.2	+	3	583	c.223G>T	c.(223-225)GGC>TGC	p.G75C	SIRPA_uc010zps.1_Missense_Mutation_p.G55C|SIRPA_uc002wfr.2_Missense_Mutation_p.G75C|SIRPA_uc002wfs.2_Missense_Mutation_p.G75C|SIRPA_uc002wft.2_Missense_Mutation_p.G75C	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	75	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AGCTGGACCAGGCCGGGAATT	0.537	GBM(155;1668 1920 5945 42733 48121)		NA											4	64					2.56e-06	3.42349e-06	0.000248	1	0
SLC32A1	140679	broad.mit.edu	37	20	37356572	37356572	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:37356572C>A	uc002xjc.2	+	2	1131	c.868C>A	c.(868-870)CGC>AGC	p.R290S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	290	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ATCGCGGGCGCGCGACTGGGC	0.532			NA											19	34					2.35188e-11	3.58635e-11	0.006122	1	0
SEMG2	6407	broad.mit.edu	37	20	43850431	43850431	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:43850431A>G	uc010ggz.2	+	2	215	c.158A>G	c.(157-159)GAC>GGC	p.D53G	SEMG2_uc002xnk.2_Missense_Mutation_p.D53G|SEMG2_uc002xnl.2_Missense_Mutation_p.D53G	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	53					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGACAAAAAGACCAACAACAT	0.388			NA											16	37					0	0	0.003163	0	0
CDH22	64405	broad.mit.edu	37	20	44806656	44806656	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:44806656G>T	uc002xrm.2	-	10	2245	c.1844C>A	c.(1843-1845)GCC>GAC	p.A615D	CDH22_uc010ghk.1_Missense_Mutation_p.A615D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	615	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CATGACAAAGGCCGTGGTGTT	0.652			NA											5	21					1.23904e-05	1.57568e-05	0.000602	1	0
KCNG1	3755	broad.mit.edu	37	20	49621081	49621081	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:49621081C>T	uc002xwa.3	-	3	1332	c.1037G>A	c.(1036-1038)CGG>CAG	p.R346Q		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	346	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GCGCAGCGCCCGCAGCACGCG	0.736			NA											9	8					0	0	0.006214	0	0
ATP9A	10079	broad.mit.edu	37	20	50329578	50329578	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:50329578C>A	uc002xwg.1	-	4	363	c.363G>T	c.(361-363)GCG>GCT	p.A121A	ATP9A_uc010gih.1_Silent_p.A106A	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	121	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TCTCCTCCACCGCCTCACGGA	0.627			NA											6	20					0.00116845	0.00135315	0.001168	1	0
CDH26	60437	broad.mit.edu	37	20	58569452	58569452	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr20:58569452C>T	uc002ybe.2	+	11	1874	c.1574C>T	c.(1573-1575)CCG>CTG	p.P525L	CDH26_uc002ybf.1_Missense_Mutation_p.P105L|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.P39L|CDH26_uc002ybh.2_5'Flank|CDH26_uc002ybi.2_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	525	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCAGAGGATCCGGACCTGGAG	0.542			NA											3	32					0	0	0.004672	0	0
TIAM1	7074	broad.mit.edu	37	21	32493002	32493002	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr21:32493002T>C	uc002yow.1	-	29	4932	c.4460A>G	c.(4459-4461)CAG>CGG	p.Q1487R	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.Q1427R	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1487					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AAGATCAAACTGCTCCTCTAC	0.547			NA											17	26					0	0	0.00499	0	0
MX1	4599	broad.mit.edu	37	21	42807878	42807878	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr21:42807878G>A	uc002yzh.2	+	8	1167	c.220G>A	c.(220-222)GCC>ACC	p.A74T	MX1_uc002yzi.2_Missense_Mutation_p.A74T|MX1_uc010goq.2_Missense_Mutation_p.A74T	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	74					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCCAGCCATCGCCGTCATCGG	0.602			NA											5	60					0	0	0.000602	0	0
PRODH	5625	broad.mit.edu	37	22	18918540	18918540	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:18918540C>A	uc010grl.2	-	2	459	c.445G>T	c.(445-447)GAC>TAC	p.D149Y	PRODH_uc002zoj.3_Missense_Mutation_p.D39Y|PRODH_uc002zol.3_Missense_Mutation_p.D39Y|PRODH_uc002zok.3_Missense_Mutation_p.D149Y	NM_016335	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase 1	149					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)	1					L-Proline(DB00172)	GGGCTCAGGTCCTCCTCCACT	0.627			NA											20	45					1.9806e-07	2.7355e-07	0.002299	1	0
ZNRF3	84133	broad.mit.edu	37	22	29445929	29445929	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:29445929G>T	uc003aeg.2	+	8	1625	c.1460G>T	c.(1459-1461)CGC>CTC	p.R487L	ZNRF3_uc003aeh.1_Missense_Mutation_p.R487L	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	587	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						TCCACCTTCCGCAGCTCCCTC	0.637			NA											24	92					2.21704e-12	3.42725e-12	0.00278	1	0
APOL5	80831	broad.mit.edu	37	22	36122751	36122751	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:36122751T>C	uc003aof.2	+	3	636	c.636T>C	c.(634-636)CAT>CAC	p.H212H		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	212					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						CAACATCACATGAGGCTTTCG	0.448			NA											39	116					0	0	0.005524	0	0
EIF3D	8664	broad.mit.edu	37	22	36912753	36912753	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:36912753G>A	uc003apq.2	-	11	1191	c.1075C>T	c.(1075-1077)CGT>TGT	p.R359C	EIF3D_uc011amr.1_Missense_Mutation_p.R186C|EIF3D_uc003apr.2_Missense_Mutation_p.R359C|EIF3D_uc011ams.1_Missense_Mutation_p.R262C|EIF3D_uc011amt.1_Missense_Mutation_p.R310C	NM_003753	NP_003744	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3	359						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			pancreas(1)	1						GTGACCTACCGGTACGCAACA	0.502			NA											8	132					0	0	0.00308	0	0
SCUBE1	80274	broad.mit.edu	37	22	43614412	43614412	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:43614412G>T	uc003bdt.1	-	15	1828	c.1740C>A	c.(1738-1740)GCC>GCA	p.A580A		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	580					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTTGATGGCGGCCTGCAGGC	0.612			NA											63	74					6.8682e-38	1.19927e-37	0.00361	1	0
SCUBE1	80274	broad.mit.edu	37	22	43616542	43616542	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:43616542C>A	uc003bdt.1	-	14	1689	c.1601G>T	c.(1600-1602)AGG>ATG	p.R534M		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	534					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCACGGCGCCTCTTCTTGGA	0.582			NA											12	58					0.00010058	0.000121926	0.001368	1	0
SHANK3	85358	broad.mit.edu	37	22	51160827	51160827	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:51160827G>T	uc003bne.1	+	22	4614	c.4614G>T	c.(4612-4614)CTG>CTT	p.L1538L	SHANK3_uc003bnf.1_Silent_p.L985L|SHANK3_uc010hbg.1_Silent_p.L720L	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1538										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGGGCAGCCTGCTGGACCCTG	0.642			NA											12	24					3.07112e-06	4.07467e-06	0.000978	1	0
IL17RC	84818	broad.mit.edu	37	3	9975223	9975223	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:9975223G>T	uc003bua.2	+	19	2558	c.2322G>T	c.(2320-2322)GCG>GCT	p.A774A	CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_Silent_p.A703A|IL17RC_uc011atp.1_Silent_p.A529A|IL17RC_uc003bud.2_Silent_p.A244A|IL17RC_uc003bub.2_Silent_p.A688A|IL17RC_uc010hct.2_Silent_p.A690A|IL17RC_uc010hcu.2_Silent_p.A673A|IL17RC_uc010hcv.2_Silent_p.A671A|IL17RC_uc011atq.1_3'UTR|IL17RC_uc003buc.2_Silent_p.A231A|IL17RC_uc003bue.2_Silent_p.A326A|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	774	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GGACTCCCGCGCCGGGACGCG	0.687			NA											7	8					0.00198382	0.00226626	0.001984	1	0
CAND2	23066	broad.mit.edu	37	3	12856747	12856747	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:12856747G>C	uc003bxk.2	+	8	1163	c.1114G>C	c.(1114-1116)GAT>CAT	p.D372H	CAND2_uc003bxj.2_Missense_Mutation_p.D279H	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	372	HEAT 9.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						CCTGCTGCCCGATTTCCACTG	0.602	GBM(43;676 868 1633 6395 37496)		NA											6	53					0	0	0.001168	0	0
SCN11A	11280	broad.mit.edu	37	3	38938351	38938351	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:38938351C>A	uc011ays.1	-	14	2587	c.2388G>T	c.(2386-2388)GTG>GTT	p.V796V	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	796	II.|Helical; Name=S6 of repeat II; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTTTTCCTATCACCGTGATCA	0.353			NA											12	15					0.00136819	0.00157905	0.001368	1	0
ROBO2	6092	broad.mit.edu	37	3	77607285	77607285	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:77607285G>T	uc003dpy.3	+	9	2065	c.1422G>T	c.(1420-1422)CAG>CAT	p.Q474H	ROBO2_uc003dpz.2_Missense_Mutation_p.Q478H|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.Q478H	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	474	Ig-like C2-type 5.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCACACTGCAGATTAAGAATT	0.378			NA											7	37					5.18039e-06	6.84624e-06	0.00308	1	0
GPR156	165829	broad.mit.edu	37	3	119886746	119886746	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:119886746C>A	uc011bjf.1	-	9	1578	c.1578G>T	c.(1576-1578)AGG>AGT	p.R526S	GPR156_uc011bjg.1_Missense_Mutation_p.R522S	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	526	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		TCTCCAGATGCCTCTGTCTCT	0.577			NA											55	110					5.47352e-35	9.50813e-35	0.00361	1	0
CHCHD6	84303	broad.mit.edu	37	3	126423156	126423156	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:126423156A>C	uc003ejf.1	+	1	39	c.1A>C	c.(1-3)ATG>CTG	p.M1L	CHCHD6_uc010hsj.1_Missense_Mutation_p.M1L	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain	1											0						GCATCTCGCCATGGGGAGCAC	0.522			NA											4	12					0	0	0.000248	0	0
ABTB1	80325	broad.mit.edu	37	3	127395174	127395174	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:127395174G>A	uc003ejt.2	+	5	468	c.380G>A	c.(379-381)CGG>CAG	p.R127Q	ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.R102Q|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	127	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						AAGCCATTCCGGGTGCATCGC	0.582			NA											23	91					0	0	0.00333	0	0
SI	6476	broad.mit.edu	37	3	164732923	164732923	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:164732923A>G	uc003fei.2	-	33	4049	c.3987T>C	c.(3985-3987)ATT>ATC	p.I1329I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1329	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGCCCAACAAATGTCATTGG	0.318			NA								HNSCC(35;0.089)			12	16					0	0	0.00245	0	0
BCL6	604	broad.mit.edu	37	3	187449674	187449674	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:187449674A>G	uc003frp.3	-	4	663	c.206T>C	c.(205-207)CTT>CCT	p.L69P	BCL6_uc011bsf.1_Missense_Mutation_p.L69P|BCL6_uc010hza.2_Intron|BCL6_uc003frq.1_Missense_Mutation_p.L69P	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	69	BTB.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GATCACACTAAGGTTGCATTT	0.438			NA	T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								3	24					0	0	0.004672	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082037	193082037	+	Silent	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:193082037C>G	uc011bsq.1	-	2	96	c.96G>C	c.(94-96)CGG>CGC	p.R32R		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	32					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGAAGGCTTTCCGTACATTGT	0.463			NA											28	113					0	0	0.008361	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982247	9982247	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:9982247T>A	uc003gmc.2	-	5	711	c.650A>T	c.(649-651)CAG>CTG	p.Q217L	SLC2A9_uc003gmd.2_Missense_Mutation_p.Q188L	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	217	Helical; Name=5; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						GCCCAGAAGCTGCCCAGTGAA	0.567			NA											21	28					0	0	0.002299	0	0
RFC1	5981	broad.mit.edu	37	4	39291518	39291518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:39291518G>A	uc003gty.1	-	24	3447	c.3313C>T	c.(3313-3315)CAA>TAA	p.Q1105*	RFC1_uc003gtx.1_Nonsense_Mutation_p.Q1104*	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	1105					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TCATCAGATTGAGAGTCATCT	0.398	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)		NA											20	89					0	0	0.007413	0	0
GABRA4	2557	broad.mit.edu	37	4	46930594	46930594	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:46930594C>T	uc003gxg.2	-	9	1452	c.1313G>A	c.(1312-1314)CGT>CAT	p.R438H		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	438	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCATTTGCACGGCTGAATGG	0.463	Ovarian(6;283 369 8234 12290 33402)		NA											5	69					0	0	0.001168	0	0
SRP72	6731	broad.mit.edu	37	4	57344766	57344766	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:57344766A>T	uc003hbv.2	+	8	816	c.776A>T	c.(775-777)GAT>GTT	p.D259V	SRP72_uc010ihe.2_Intron|SRP72_uc003hbw.1_Missense_Mutation_p.D64V	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	259	TPR 3.				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AGACCAACAGATGTGGGATTA	0.348			NA											15	26					0	0	0.003163	0	0
STAP1	26228	broad.mit.edu	37	4	68436850	68436850	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:68436850T>A	uc003hde.3	+	2	251	c.169T>A	c.(169-171)TAT>AAT	p.Y57N	STAP1_uc003hdf.2_Missense_Mutation_p.Y57N	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	57	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm					0						TCTTTTCTTTTATACCGACAA	0.313			NA											38	107					0	0	0.003214	0	0
HNRPDL	9987	broad.mit.edu	37	4	83350667	83350667	+	Silent	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:83350667G>C	uc003hmr.2	-	1	712	c.177C>G	c.(175-177)CGC>CGG	p.R59R	ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Silent_p.R59R	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	59					regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				CGGTGACGTGGCGCTGGGCCC	0.647			NA											3	3					0	0	0.004672	0	0
UNC5C	8633	broad.mit.edu	37	4	96163625	96163625	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:96163625G>T	uc003htp.1	-	7	1217	c.1063C>A	c.(1063-1065)CTC>ATC	p.L355I	UNC5C_uc010ilc.1_Missense_Mutation_p.L355I|UNC5C_uc003htq.2_Missense_Mutation_p.L355I	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	355	Extracellular (Potential).|TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCAAGACGAGGCCGTCGCAG	0.542			NA											8	15					1.06961e-07	1.4895e-07	0.00308	1	0
CENPE	1062	broad.mit.edu	37	4	104116363	104116363	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:104116363C>A	uc003hxb.1	-	5	475	c.385G>T	c.(385-387)GTA>TTA	p.V129L	CENPE_uc003hxc.1_Missense_Mutation_p.V129L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	129	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATGTAAGATACACGTAAGAGA	0.318			NA											10	14					2.17888e-05	2.72967e-05	0.006214	1	0
TBCK	93627	broad.mit.edu	37	4	107168317	107168317	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:107168317C>A	uc010ilv.2	-	10	1275	c.910G>T	c.(910-912)GAT>TAT	p.D304Y	TBCK_uc003hyb.2_Missense_Mutation_p.D47Y|TBCK_uc003hye.2_Missense_Mutation_p.D265Y|TBCK_uc003hyc.2_Missense_Mutation_p.D241Y|TBCK_uc003hyd.2_Missense_Mutation_p.D132Y|TBCK_uc003hyf.2_Missense_Mutation_p.D304Y	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	304						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						TGACTGATATCCTCAGGCAGA	0.358			NA											7	27					0.00198382	0.00226626	0.001984	1	0
SORBS2	8470	broad.mit.edu	37	4	186544274	186544274	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:186544274G>A	uc003iyl.2	-	13	3155	c.2297C>T	c.(2296-2298)CCA>CTA	p.P766L	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.P866L|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.P670L|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.P880L|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	766						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGAACATCTGGCAGCAGCTC	0.557	Esophageal Squamous(153;41 2433 9491 36028)		NA											9	167					0	0	0.006214	0	0
FAT1	2195	broad.mit.edu	37	4	187524999	187524999	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr4:187524999C>A	uc003izf.2	-	19	10869	c.10681G>T	c.(10681-10683)GGT>TGT	p.G3561C		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3561	Extracellular (Potential).|Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATGACGCCACCTGAGTATTCT	0.473	Colon(197;1040 2055 4143 4984 49344)		NA								HNSCC(5;0.00058)			12	32					5.50884e-06	7.19565e-06	0.001368	1	0
CDH18	1016	broad.mit.edu	37	5	19473781	19473781	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:19473781G>A	uc003jgc.2	-	12	2304	c.1927C>T	c.(1927-1929)CCC>TCC	p.P643S	CDH18_uc003jgd.2_Missense_Mutation_p.P643S|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	643	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGATCAAGGGCTCTTTTTTG	0.443			NA											15	226					0	0	0.003163	0	0
CDH12	1010	broad.mit.edu	37	5	21751882	21751882	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:21751882G>A	uc010iuc.2	-	12	2807	c.2349C>T	c.(2347-2349)GGC>GGT	p.G783G	CDH12_uc011cno.1_Silent_p.G743G|CDH12_uc003jgk.2_Silent_p.G783G|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	783	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TCTCTTCTTCGCCAAACATGT	0.448			NA								HNSCC(59;0.17)			6	84					0	0	0.001984	0	0
OXCT1	5019	broad.mit.edu	37	5	41739555	41739555	+	Silent	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:41739555C>G	uc003jmn.2	-	16	1789	c.1458G>C	c.(1456-1458)CTG>CTC	p.L486L	OXCT1_uc011cpo.1_Silent_p.L89L|OXCT1_uc011cpp.1_Silent_p.L89L	NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	486					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	AGAGCTCAATCAGAGTCAACC	0.413			NA											3	81					0	0	0.004672	0	0
MGC42105	167359	broad.mit.edu	37	5	43280133	43280133	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:43280133A>G	uc003jno.2	+	4	1494	c.613A>G	c.(613-615)ACC>GCC	p.T205A		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	205	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						TGTATTCTATACCAGTAATAC	0.378			NA											17	42					0	0	0.00499	0	0
HCN1	348980	broad.mit.edu	37	5	45645551	45645551	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:45645551C>A	uc003jok.2	-	2	610	c.585G>T	c.(583-585)AGG>AGT	p.R195S		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	195	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CAGTCCCAGTCCTAAAATTCA	0.373			NA											15	33					1.49906e-05	1.89207e-05	0.00245	1	0
ENC1	8507	broad.mit.edu	37	5	73931234	73931234	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:73931234C>A	uc003kdc.3	-	2	2208	c.1077G>T	c.(1075-1077)TGG>TGT	p.W359C	ENC1_uc011css.1_Missense_Mutation_p.W286C	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	359	Kelch 2.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TATCATAAACCCAGACATCTT	0.542			NA											40	68					2.52637e-11	3.83508e-11	0.005524	1	0
CMYA5	202333	broad.mit.edu	37	5	79025142	79025142	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:79025142A>G	uc003kgc.2	+	2	626	c.554A>G	c.(553-555)TAT>TGT	p.Y185C		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	185						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAAGTCATATACTGGCATT	0.368			NA											12	26					0	0	0.000978	0	0
FBN2	2201	broad.mit.edu	37	5	127666351	127666351	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:127666351C>A	uc003kuu.2	-	33	4698	c.4259G>T	c.(4258-4260)AGC>ATC	p.S1420I	FBN2_uc003kuv.2_Missense_Mutation_p.S1387I	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1420	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCATTGATGCTACACTGGTG	0.468			NA											5	33					0.000602214	0.000709602	0.000602	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563531	140563531	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:140563531C>A	uc003liv.2	+	1	2552	c.1397C>A	c.(1396-1398)CCC>CAC	p.P466H	PCDHB16_uc010jfw.1_Missense_Mutation_p.P138H	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	466	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAACAGCCCCGCCCTGCAC	0.607			NA											17	178					1.99824e-07	2.74859e-07	0.00499	1	0
PPP2R2B	5521	broad.mit.edu	37	5	146070757	146070757	+	Silent	SNP	T	T	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:146070757T>A	uc003loe.2	-	4	906	c.381A>T	c.(379-381)CCA>CCT	p.P127P	PPP2R2B_uc010jgm.2_Silent_p.P116P|PPP2R2B_uc003log.3_Silent_p.P127P|PPP2R2B_uc003lof.3_Silent_p.P127P|PPP2R2B_uc003loi.3_Silent_p.P130P|PPP2R2B_uc003loh.3_Silent_p.P127P|PPP2R2B_uc003loj.3_Silent_p.P107P|PPP2R2B_uc003lok.3_Silent_p.P116P|PPP2R2B_uc011dbu.1_Silent_p.P133P|PPP2R2B_uc011dbv.1_Silent_p.P185P	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	127	WD 2.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTAGCCTTCTGGCCTCTTAT	0.517			NA											31	58					0	0	0.002836	0	0
FAM71B	153745	broad.mit.edu	37	5	156589500	156589500	+	Silent	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:156589500G>C	uc003lwn.2	-	2	1876	c.1776C>G	c.(1774-1776)TCC>TCG	p.S592S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	592						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGTCTTCTCGGATGTCATAG	0.512			NA											78	187					0	0	0.00361	0	0
GABRG2	2566	broad.mit.edu	37	5	161576310	161576310	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:161576310G>T	uc003lyz.3	+	8	1477	c.1119G>T	c.(1117-1119)AAG>AAT	p.K373N	GABRG2_uc010jjc.2_Missense_Mutation_p.K413N|GABRG2_uc003lyy.3_Missense_Mutation_p.K373N|GABRG2_uc011dej.1_Missense_Mutation_p.K278N	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	373	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATAAAAAGAAGAAAAACCCTG	0.388			NA											6	39					4.096e-09	6.00153e-09	0.001168	1	0
ODZ2	57451	broad.mit.edu	37	5	167589629	167589629	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:167589629C>A	uc010jjd.2	+	13	2409	c.2409C>A	c.(2407-2409)GAC>GAA	p.D803E	ODZ2_uc003lzr.3_Missense_Mutation_p.D580E|ODZ2_uc003lzt.3_Missense_Mutation_p.D176E|ODZ2_uc010jje.2_Missense_Mutation_p.D74E|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCTGCCCTGACTTGTGCAACG	0.617			NA											12	23					5.50884e-06	7.19565e-06	0.001368	1	0
TRIM52	84851	broad.mit.edu	37	5	180687006	180687006	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr5:180687006T>C	uc003mnp.2	-	1	1114	c.809A>G	c.(808-810)TAC>TGC	p.Y270C	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	270						intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TCTCACCTGGTACTCCTGCAC	0.542			NA											56	157					0	0	0.00361	0	0
SYCP2L	221711	broad.mit.edu	37	6	10911057	10911057	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:10911057G>T	uc003mzo.2	+	12	1169	c.873G>T	c.(871-873)AGG>AGT	p.R291S	SYCP2L_uc011din.1_Missense_Mutation_p.R132S|SYCP2L_uc010jow.2_Intron	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	291						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TATTTTGCAGGGTGTATTCAT	0.408			NA											24	90					6.44725e-10	9.52949e-10	0.002299	1	0
HIVEP1	3096	broad.mit.edu	37	6	12161872	12161872	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:12161872G>A	uc003nac.2	+	8	6867	c.6688G>A	c.(6688-6690)GAG>AAG	p.E2230K	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2230					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)				GAGTACTGACGAGGATGTCAG	0.572			NA											14	15					0	0	0.001855	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169149	32169149	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:32169149G>A	uc003obb.2	-	22	4023	c.3884C>T	c.(3883-3885)CCC>CTC	p.P1295L	NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1295	Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GGCCAGGGAGGGCCCCCACTC	0.642			NA											13	28					0	0	0.001368	0	0
DST	667	broad.mit.edu	37	6	56501375	56501375	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:56501375C>T	uc003pdf.2	-	22	2969	c.2941G>A	c.(2941-2943)GAG>AAG	p.E981K	DST_uc003pcz.3_Missense_Mutation_p.E803K|DST_uc011dxj.1_Missense_Mutation_p.E832K|DST_uc011dxk.1_Missense_Mutation_p.E843K|DST_uc003pcy.3_Missense_Mutation_p.E477K|DST_uc003pdb.2_Missense_Mutation_p.E477K|DST_uc003pdc.3_Missense_Mutation_p.E477K|DST_uc003pdd.3_Missense_Mutation_p.E477K	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	803					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)			GCTGTGTTCTCCTTTATGTGC	0.418			NA											5	93					0	0	0.000602	0	0
COL9A1	1297	broad.mit.edu	37	6	70942411	70942411	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:70942411C>A	uc003pfg.3	-	36	2537	c.2378G>T	c.(2377-2379)GGA>GTA	p.G793V	COL9A1_uc003pfe.3_Missense_Mutation_p.G342V|COL9A1_uc003pff.3_Missense_Mutation_p.G550V	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	793	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						GCCAGGCCTTCCAGGAAGCCC	0.567			NA											9	30					0.000274275	0.000328935	0.004482	1	0
EEF1A1	1915	broad.mit.edu	37	6	74228319	74228319	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:74228319G>A	uc003phi.2	-	5	824	c.787C>T	c.(787-789)CCT>TCT	p.P263S	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.P253S|EEF1A1_uc003phf.2_Missense_Mutation_p.P263S|EEF1A1_uc003phg.2_Missense_Mutation_p.P263S|EEF1A1_uc003phh.2_Missense_Mutation_p.P109S|EEF1A1_uc003phj.2_Missense_Mutation_p.P263S|EEF1A1_uc003phk.2_Missense_Mutation_p.P263S|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	263						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						CGGCCAACAGGAACAGTACCA	0.413			NA									OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	47					0	0	0.00308	0	0
PHIP	55023	broad.mit.edu	37	6	79735767	79735767	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:79735767T>C	uc003pir.2	-	8	941	c.715A>G	c.(715-717)ATG>GTG	p.M239V	PHIP_uc011dyp.1_Missense_Mutation_p.M239V	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	239	WD 2.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GCTGCTATCATGGTATTCTCA	0.433			NA											21	43					0	0	0.001523	0	0
ZNF292	23036	broad.mit.edu	37	6	87965604	87965604	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:87965604A>G	uc003plm.3	+	8	2298	c.2257A>G	c.(2257-2259)ATA>GTA	p.I753V		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	753	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATATATCTGTATACAGATGAA	0.378			NA											8	20					0	0	0.00308	0	0
MED23	9439	broad.mit.edu	37	6	131924232	131924232	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:131924232G>A	uc003qcs.1	-	16	2043	c.1869C>T	c.(1867-1869)CTC>CTT	p.L623L	MED23_uc003qcq.2_Silent_p.L629L|MED23_uc011eca.1_Silent_p.L264L|MED23_uc003qct.1_Silent_p.L629L|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	623					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GATGACTCAGGAGCTGAACTC	0.423			NA											18	40					0	0	0.007413	0	0
UNC93A	54346	broad.mit.edu	37	6	167721398	167721399	+	Splice_Site	DNP	GG	GG	TT			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr6:167721398_167721399GG>TT	uc003qvq.2	+	7	1283	c.1108_splice	c.e7+1	p.A370_splice	UNC93A_uc003qvr.2_Splice_Site_p.A328_splice	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1							integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAAAACAATGGTGAGTCCCCA	0.609			NA											11	28					0	0	0.004672	0	0
ITGB8	3696	broad.mit.edu	37	7	20441744	20441744	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:20441744G>T	uc003suu.2	+	10	2387	c.1682G>T	c.(1681-1683)TGT>TTT	p.C561F	ITGB8_uc011jyh.1_Missense_Mutation_p.C426F	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	561	III.|Cysteine-rich tandem repeats.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						GGAAATCTGTGTGCTGGTGAG	0.333			NA											17	32					9.16793e-09	1.32034e-08	0.00499	1	0
HOXA10	3206	broad.mit.edu	37	7	27213368	27213368	+	Silent	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:27213368G>T	uc011jzm.1	-	1	588	c.558C>A	c.(556-558)GCC>GCA	p.A186A	HOXA10_uc003syw.3_Intron	NM_018951	NP_061824	P31260	HXA10_HUMAN	homeobox A10 isoform a	186					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAGCCAGTTCGGCGGCGGTGG	0.672			NA											6	12					0.00116845	0.00135315	0.001168	1	0
AMPH	273	broad.mit.edu	37	7	38500890	38500890	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:38500890G>T	uc003tgu.2	-	11	1079	c.1010C>A	c.(1009-1011)CCT>CAT	p.P337H	AMPH_uc003tgv.2_Missense_Mutation_p.P337H|AMPH_uc003tgt.2_Missense_Mutation_p.P90H	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	337					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						TACCTGGGAAGGTGTTGTCAC	0.502			NA											51	91					1.32667e-27	2.25802e-27	0.00361	1	0
C7orf10	79783	broad.mit.edu	37	7	40277289	40277289	+	Silent	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:40277289G>C	uc003thn.1	+	7	585	c.540G>C	c.(538-540)TCG>TCC	p.S180S	C7orf10_uc003thm.1_Silent_p.S150S|C7orf10_uc003tho.1_Silent_p.S180S	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	187							transferase activity			ovary(2)	2						CTGTTGCCTCGGCTGTTTCTG	0.428			NA											18	50					0	0	0.007413	0	0
TNS3	64759	broad.mit.edu	37	7	47436483	47436483	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:47436483T>C	uc003tnv.2	-	16	1305	c.938A>G	c.(937-939)AAC>AGC	p.N313S	TNS3_uc003tnw.2_Missense_Mutation_p.N313S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	313						focal adhesion	protein binding			ovary(4)	4						ACCGTGGTCGTTGTACAAGTG	0.527			NA											6	85					0	0	0.001168	0	0
POM121L12	285877	broad.mit.edu	37	7	53103448	53103449	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:53103448_53103449CC>AA	uc003tpz.2	+	1	100_101	c.84_85CC>AA	c.(82-87)GCCCTG>GCAATG	p.L29M		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	29											0						GCCCCGACGCCCTGGCGGCTCC	0.703			NA											12	27					0	0	0.004672	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628952	84628952	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:84628952T>C	uc003uic.2	-	17	2178	c.2138A>G	c.(2137-2139)TAC>TGC	p.Y713C	SEMA3D_uc010led.2_Missense_Mutation_p.Y713C|SEMA3D_uc003uib.2_Missense_Mutation_p.Y352C	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	713					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						GTAGTCTTTGTATCTCAACCG	0.488	Ovarian(63;442 1191 17318 29975 31528)		NA											18	44					0	0	0.006122	0	0
MUC17	140453	broad.mit.edu	37	7	100679577	100679577	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:100679577G>T	uc003uxp.1	+	3	4933	c.4880G>T	c.(4879-4881)AGT>ATT	p.S1627I	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1627	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACTCCTAGTGAAGGAAGT	0.493			NA											71	244					2.36135e-34	4.0809e-34	0.00361	1	0
LAMB4	22798	broad.mit.edu	37	7	107708521	107708521	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:107708521C>G	uc010ljo.1	-	19	2470	c.2386G>C	c.(2386-2388)GGG>CGG	p.G796R	LAMB4_uc003vey.2_Missense_Mutation_p.G796R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	796	Laminin EGF-like 6.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CAGCAGCGCCCGACCACAAGA	0.567			NA											7	174					0	0	0.001984	0	0
TMEM168	64418	broad.mit.edu	37	7	112407566	112407566	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:112407566C>G	uc003vgn.2	-	5	2172	c.1780G>C	c.(1780-1782)GAA>CAA	p.E594Q	TMEM168_uc010lju.2_Missense_Mutation_p.E594Q|TMEM168_uc011kmr.1_Missense_Mutation_p.E210Q	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	594						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2						CAGTTATATTCTACCCAGTCT	0.433			NA											13	29					0	0	0.00245	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192477	132192477	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:132192477G>C	uc003vra.3	-	2	1205	c.976C>G	c.(976-978)CTT>GTT	p.L326V	PLXNA4_uc003vrc.2_Missense_Mutation_p.L326V|PLXNA4_uc003vrb.2_Missense_Mutation_p.L326V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	326	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGGACTCCAAGGGTCCTGCCA	0.587			NA											17	27					0	0	0.007413	0	0
EPHB6	2051	broad.mit.edu	37	7	142561001	142561001	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:142561001G>T	uc011kst.1	+	5	803	c.16G>T	c.(16-18)GCT>TCT	p.A6S	EPHB6_uc011ksu.1_Missense_Mutation_p.A6S|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	6						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TACTGAAGGGGCTGCCCAGTT	0.607			NA											4	24					0.00024832	0.000298871	0.000248	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146825897	146825897	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:146825897C>A	uc003weu.1	+	7	1568	c.1052C>A	c.(1051-1053)GCC>GAC	p.A351D		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	351	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGATCTTGCCAGAAGGAAG	0.393			NA								HNSCC(39;0.1)			20	73					2.89027e-11	4.3678e-11	0.002299	1	0
MLL3	58508	broad.mit.edu	37	7	151970862	151970862	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr7:151970862C>A	uc003wla.2	-	7	1159	c.940G>T	c.(940-942)GCC>TCC	p.A314S		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	314					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGGTGCCGGCTCCTGCAGCA	0.438	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								6	153					3.59834e-05	4.47468e-05	0.001168	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37756794	37756794	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:37756794C>A	uc003xkm.1	-	1	210	c.166G>T	c.(166-168)GTG>TTG	p.V56L	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.V56L	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	56	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CGCTCCGACACGGAGGTGGCG	0.751			NA											9	27					0.00448238	0.00505205	0.004482	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70744733	70744733	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:70744733G>T	uc003xyl.2	-	2	883	c.176C>A	c.(175-177)CCG>CAG	p.P59Q	SLCO5A1_uc010lzb.2_Missense_Mutation_p.P59Q|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.P59Q|SLCO5A1_uc010lzc.2_Missense_Mutation_p.P59Q	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	59	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCCAAAGGCCGGGTTGGCGTC	0.657			NA									OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	46					9.31168e-06	1.2116e-05	0.001855	1	0
KCNB2	9312	broad.mit.edu	37	8	73849655	73849655	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:73849655A>T	uc003xzb.2	+	3	2653	c.2065A>T	c.(2065-2067)AGT>TGT	p.S689C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	689	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGGGCTACATAGTCCTTTGCA	0.512			NA											25	48					0	0	0.003954	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776363	77776363	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:77776363C>A	uc003yav.2	+	11	10665	c.10278C>A	c.(10276-10278)CAC>CAA	p.H3426Q		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3422	C2H2-type 20.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAGCTTGCACAAAGAGAAAA	0.448			NA								HNSCC(33;0.089)			18	39					5.01169e-05	6.16402e-05	0.00499	1	0
LRRCC1	85444	broad.mit.edu	37	8	86025216	86025216	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:86025216A>G	uc003ycw.2	+	4	580	c.426A>G	c.(424-426)CTA>CTG	p.L142L	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_5'UTR|LRRCC1_uc003ycx.2_Silent_p.L49L|LRRCC1_uc003ycy.2_Silent_p.L122L	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	142	LRR 5.				cell division|mitosis	centriole|nucleus					0						ATATTGATCTACATAGTAATC	0.343			NA											20	24					0	0	0.002299	0	0
RAD54B	25788	broad.mit.edu	37	8	95392404	95392404	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:95392404T>G	uc003ygk.2	-	12	2314	c.2216A>C	c.(2215-2217)GAC>GCC	p.D739A	RAD54B_uc010may.1_Missense_Mutation_p.D546A	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CCAATCAATGTCATAGAGAAT	0.249			NA						Direct_reversal_of_damage|Homologous_recombination					17	26					0	0	0.004007	0	0
PTDSS1	9791	broad.mit.edu	37	8	97296350	97296350	+	Silent	SNP	A	A	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:97296350A>T	uc003yht.1	+	3	387	c.285A>T	c.(283-285)CGA>CGT	p.R95R	PTDSS1_uc003yhu.1_Intron	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CGTTCACTCGACCTCATCCAG	0.353			NA											4	67					0	0	0.000248	0	0
POP1	10940	broad.mit.edu	37	8	99142321	99142321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:99142321G>A	uc003yij.3	+	5	702	c.602G>A	c.(601-603)TGG>TAG	p.W201*	POP1_uc011lgv.1_Nonsense_Mutation_p.W201*|POP1_uc003yik.2_Nonsense_Mutation_p.W201*	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	201					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAGAACATTTGGTTAGAAACT	0.448			NA											24	31					0	0	0.00278	0	0
VPS13B	157680	broad.mit.edu	37	8	100829872	100829872	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:100829872G>A	uc003yiv.2	+	45	8388	c.8277G>A	c.(8275-8277)CGG>CGA	p.R2759R	VPS13B_uc003yiw.2_Silent_p.R2734R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2759					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGTAGTTCGGGAACATTTTG	0.423	Colon(161;2205 2542 7338 31318)		NA											22	44					0	0	0.002299	0	0
HAS2	3037	broad.mit.edu	37	8	122641356	122641356	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:122641356T>C	uc003yph.2	-	2	763	c.225A>G	c.(223-225)CTA>CTG	p.L75L		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	75	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGGGTTTCTAGGGATTTTT	0.413			NA											34	184					0	0	0.002836	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957227	143957227	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:143957227C>A	uc003yxi.2	-	6	1029	c.1022G>T	c.(1021-1023)CGC>CTC	p.R341L	CYP11B1_uc010mex.2_Missense_Mutation_p.R17L|CYP11B1_uc003yxh.2_Missense_Mutation_p.R57L|CYP11B1_uc003yxj.2_Missense_Mutation_p.R341L|CYP11B1_uc010mey.2_Missense_Mutation_p.R412L	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	341					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTCTCCTGGCGCAGGGCCTG	0.642			NA							Familial_Hyperaldosteronism_type_I				52	108					7.47603e-22	1.23501e-21	0.00361	1	0
APBA1	320	broad.mit.edu	37	9	72055918	72055918	+	Silent	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:72055918A>G	uc004ahh.2	-	11	2571	c.2295T>C	c.(2293-2295)AAT>AAC	p.N765N		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	765	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						TTACAATTCCATTCTGGACGC	0.403			NA											8	63					0	0	0.008291	0	0
RPSAP9	653162	broad.mit.edu	37	9	79013852	79013852	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:79013852A>G	uc011lsj.1	+	1	338	c.238A>G	c.(238-240)AGG>GGG	p.R80G		NR_026890				SubName: Full=Laminin receptor-like protein LAMRL5;												0						TATATCCTCCAGGAATACTGG	0.498			NA											6	25					0	0	0.001168	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267540	79267540	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:79267540G>C	uc010mpk.2	-	11	8540	c.8416C>G	c.(8416-8418)CCA>GCA	p.P2806A	PRUNE2_uc011lsk.1_Missense_Mutation_p.P55A|PRUNE2_uc011lsl.1_Missense_Mutation_p.P70A|PRUNE2_uc011lsm.1_Missense_Mutation_p.P70A|PRUNE2_uc004akj.3_Missense_Mutation_p.P259A|PRUNE2_uc010mpl.1_Missense_Mutation_p.P259A	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2806					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TTGATATTTGGGGCTGTGAGC	0.393			NA											57	73					0	0	0.00361	0	0
TBC1D2	55357	broad.mit.edu	37	9	101014106	101014106	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:101014106C>A	uc011lvb.1	-	2	652	c.472G>T	c.(472-474)GCC>TCC	p.A158S	TBC1D2_uc004ayq.2_Missense_Mutation_p.A158S|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A158S	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	158	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCAGCCAGGGCGGCATCAGGG	0.637			NA											7	55					0.00198382	0.00226626	0.001984	1	0
HSPA5	3309	broad.mit.edu	37	9	128000949	128000949	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:128000949G>C	uc004bpn.2	-	6	1410	c.1154C>G	c.(1153-1155)TCC>TGC	p.S385C		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	385					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	TATGCCACGGGATGGTTCCTT	0.463			NA								Prostate(1;0.17)			26	17					0	0	0.003954	0	0
AIF1L	83543	broad.mit.edu	37	9	133986984	133986984	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:133986984G>T	uc004cab.1	+	3	199	c.94G>T	c.(94-96)GAG>TAG	p.E32*	AIF1L_uc004cad.1_Nonsense_Mutation_p.E58*|AIF1L_uc004cae.1_Nonsense_Mutation_p.E32*|AIF1L_uc004cac.1_RNA|AIF1L_uc011mce.1_Nonsense_Mutation_p.E37*	NM_031426	NP_113614	Q9BQI0	AIF1L_HUMAN	ionized calcium binding adapter molecule 2	32						actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding				0						ACCTCTTTAGGAGTTTCTGTG	0.547	Esophageal Squamous(95;611 1423 5044 34794 42333)		NA											84	124					1.58411e-63	2.80971e-63	0.00361	1	0
NOTCH1	4851	broad.mit.edu	37	9	139391157	139391157	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:139391157C>A	uc004chz.2	-	34	7034	c.7034G>T	c.(7033-7035)GGC>GTC	p.G2345V		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2345	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCTACCATGCCATGCTGCAG	0.682			NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			8	71					2.17888e-05	2.72967e-05	0.006214	1	0
SHOX	6473	broad.mit.edu	37	X	595382	595382	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:595382G>A	uc004cph.1	+	3	998	c.307G>A	c.(307-309)GAC>AAC	p.D103N	SHOX_uc004cpi.2_Missense_Mutation_p.D103N	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	103					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGCGCGAGGACGTGAAGTC	0.622	Ovarian(95;18 1419 12424 14056 28266)		NA											16	25					0	0	0.008871	0	0
EIF1AX	1964	broad.mit.edu	37	X	20148716	20148716	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:20148716T>C	uc004czt.2	-	6	555	c.347A>G	c.(346-348)AAT>AGT	p.N116S		NM_001412	NP_001403	P47813	IF1AX_HUMAN	X-linked eukaryotic translation initiation	116						cytosol	translation initiation factor activity			ovary(1)	1						ATCAGTTTCATTGATTTTAGC	0.328			NA											14	4					0	0	0.00245	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999035	27999035	+	Silent	SNP	C	C	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:27999035C>T	uc004dbx.1	-	1	532	c.417G>A	c.(415-417)TTG>TTA	p.L139L		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	139										ovary(3)|skin(1)	4						TCCACTCCTCCAACGCCTGAT	0.498			NA											8	7					0	0	0.00308	0	0
FAM47C	442444	broad.mit.edu	37	X	37028396	37028396	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:37028396G>A	uc004ddl.1	+	1	1927	c.1913G>A	c.(1912-1914)CGG>CAG	p.R638Q		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	638										ovary(3)	3						CCCAAGACTCGGATGTACAGT	0.647			NA											43	33					0	0	0.00361	0	0
RBM10	8241	broad.mit.edu	37	X	47034417	47034417	+	Splice_Site	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:47034417G>A	uc004dhf.2	+	6	882	c.503_splice	c.e6-1	p.G168_splice	RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Splice_Site_p.G91_splice|RBM10_uc004dhh.2_Splice_Site_p.G168_splice|RBM10_uc010nhq.2_Splice_Site_p.G91_splice|RBM10_uc004dhi.2_Splice_Site_p.G233_splice	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						GCTGTCTCCAGGTCAGAGCCG	0.532	Melanoma(171;120 2705 19495 39241)		NA											20	8					0	0	0.001882	0	0
ITIH5L	347365	broad.mit.edu	37	X	54781507	54781507	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:54781507G>T	uc004dtj.2	-	9	3175	c.3145C>A	c.(3145-3147)CTG>ATG	p.L1049M		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1049					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GCTCCTCCCAGGATCTCCTCA	0.483			NA											35	15					1.43246e-33	2.46296e-33	0.007835	1	0
LAS1L	81887	broad.mit.edu	37	X	64749694	64749694	+	Silent	SNP	C	C	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:64749694C>A	uc004dwa.1	-	5	651	c.579G>T	c.(577-579)CTG>CTT	p.L193L	LAS1L_uc004dwc.1_Silent_p.L193L|LAS1L_uc004dwd.1_Silent_p.L151L	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	193						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						AGGTCTCTCTCAGGCTGTTCT	0.517			NA											42	30					4.0492e-12	6.23096e-12	0.006999	1	0
TEX11	56159	broad.mit.edu	37	X	69890292	69890292	+	Silent	SNP	G	G	A	rs148392671		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:69890292G>A	uc004dyl.2	-	17	1522	c.1360C>T	c.(1360-1362)CTG>TTG	p.L454L	TEX11_uc004dyk.2_Silent_p.L129L|TEX11_uc004dym.2_Silent_p.L439L	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	testis expressed sequence 11 isoform 1	454							protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)					GTGAAGTCCAGATCCATTTCA	0.353			NA											19	3					0	0	0.001523	0	0
ATRX	546	broad.mit.edu	37	X	76891476	76891476	+	Silent	SNP	T	T	C			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:76891476T>C	uc004ecp.3	-	16	4861	c.4629A>G	c.(4627-4629)GAA>GAG	p.E1543E	ATRX_uc004ecq.3_Silent_p.E1505E|ATRX_uc004eco.3_Silent_p.E1328E	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1543					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)	CTTTGGTTTCTTCATCTTCAT	0.333			NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						13	7					0	0	0.001368	0	0
TEX13A	56157	broad.mit.edu	37	X	104464957	104464957	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:104464957G>T	uc004ema.2	-	2	237	c.125C>A	c.(124-126)TCC>TAC	p.S42Y	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.S42Y	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	42						intracellular	zinc ion binding			ovary(2)	2						CTTCTCCCAGGATAAGGATAT	0.567			NA											11	23					1.61879e-10	2.42459e-10	0.001368	1	0
COL4A6	1288	broad.mit.edu	37	X	107418907	107418907	+	Missense_Mutation	SNP	C	C	A	rs140519216	byFrequency	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:107418907C>A	uc004enw.3	-	29	2913	c.2810G>T	c.(2809-2811)CGT>CTT	p.R937L	COL4A6_uc004env.3_Missense_Mutation_p.R936L|COL4A6_uc011msn.1_Missense_Mutation_p.R936L|COL4A6_uc010npk.2_Missense_Mutation_p.R936L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	937	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						AGTACCAGCACGTCCAGATGG	0.428	Melanoma(87;1895 1945 2589 7165)		NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				41	7					7.05121e-23	1.17637e-22	0.002522	1	0
DCX	1641	broad.mit.edu	37	X	110654013	110654013	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:110654013G>A	uc004epd.2	-	1	362	c.190C>T	c.(190-192)CCG>TCG	p.P64S	DCX_uc011msv.1_Missense_Mutation_p.P64S|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	64					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						TGGAACTTCGGGCTAAATACA	0.423			NA											11	98					0	0	0.000978	0	0
AMOT	154796	broad.mit.edu	37	X	112024174	112024174	+	Silent	SNP	G	G	A			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:112024174G>A	uc004epr.2	-	9	2413	c.2413C>T	c.(2413-2415)CTG>TTG	p.L805L	AMOT_uc004eps.2_Silent_p.L396L|AMOT_uc011mtc.1_Silent_p.L45L|hsa-mir-4329|MI0015901_5'Flank	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	805					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						GAGCCAGTCAGGGTGGATGAG	0.527			NA											5	83					0	0	0.000602	0	0
USP26	83844	broad.mit.edu	37	X	132160640	132160640	+	Missense_Mutation	SNP	G	G	T	rs144039408		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chrX:132160640G>T	uc010nrm.1	-	6	2079	c.1609C>A	c.(1609-1611)CAG>AAG	p.Q537K	USP26_uc011mvf.1_Missense_Mutation_p.Q537K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	537					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)					ATGACTTCCTGGTCATTCTTC	0.403	NSCLC(104;342 1621 36940 47097 52632)		NA											42	36					9.73076e-26	1.64787e-25	0.006999	1	0
HIAT1	64645	broad.mit.edu	37	1	100544036	100544037	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr1:100544036_100544037delCC	uc001dst.2	+	10	1034_1035	c.1034_1035delCC	c.(1033-1035)GCCfs	p.A345fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	345	Helical; Name=10; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GCAGTAGCAGCCATGTCTAGCA	0.426			NA											7	80	---	---	---	---	NA	NA	NA	NA	NA
KIAA1462	57608	broad.mit.edu	37	10	30315934	30315935	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr10:30315934_30315935delAA	uc001iux.2	-	2	3201_3202	c.3142_3143delTT	c.(3142-3144)TTAfs	p.L1048fs	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Frame_Shift_Del_p.L910fs|KIAA1462_uc009xle.1_Frame_Shift_Del_p.L1048fs	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1048										ovary(4)	4						CACAGACCGTAAGTCTGGAGCT	0.589			NA											35	131	---	---	---	---	NA	NA	NA	NA	NA
STK11	6794	broad.mit.edu	37	19	1221270	1221279	+	Frame_Shift_Del	DEL	GAGAACATCG	GAGAACATCG	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	GAGAACATCG	GAGAACATCG	-	-	GAGAACATCG	GAGAACATCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr19:1221270_1221279delGAGAACATCG	uc002lrl.1	+	6	1908_1917	c.793_802delGAGAACATCG	c.(793-804)GAGAACATCGGGfs	p.E265fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	265_268	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(2)|p.Y246fs*3(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGTTGTTTGAGAACATCGGGAAGGGGAG	0.605			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			8	14	---	---	---	---	NA	NA	NA	NA	NA
GTDC1	79712	broad.mit.edu	37	2	144709595	144709595	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:144709595delT	uc002tvp.2	-	11	1526	c.1247delA	c.(1246-1248)CAGfs	p.Q416fs	GTDC1_uc002tvo.2_Frame_Shift_Del_p.R368fs|GTDC1_uc002tvq.2_Frame_Shift_Del_p.Q298fs|GTDC1_uc002tvr.2_Frame_Shift_Del_p.Q331fs|GTDC1_uc010fnn.2_Frame_Shift_Del_p.Q416fs|GTDC1_uc002tvs.2_Frame_Shift_Del_p.Q384fs|GTDC1_uc010fno.2_Frame_Shift_Del_p.Q287fs	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	416					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GCAGAAATTCTGGAGCCTTTT	0.333			NA											24	42	---	---	---	---	NA	NA	NA	NA	NA
PLCL1	5334	broad.mit.edu	37	2	198966044	198966044	+	Frame_Shift_Del	DEL	G	G	-	rs77860458	byFrequency	TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr2:198966044delG	uc010fsp.2	+	4	3246	c.2955delG	c.(2953-2955)GCGfs	p.A985fs	PLCL1_uc002uuv.3_Frame_Shift_Del_p.A906fs	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	985					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TAGAAATGGCGGACACAGTCC	0.318			NA											37	57	---	---	---	---	NA	NA	NA	NA	NA
MICAL3	57553	broad.mit.edu	37	22	18389298	18389318	+	Splice_Site	DEL	ACAGGAGCAAAGCTTACCTTG	ACAGGAGCAAAGCTTACCTTG	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	ACAGGAGCAAAGCTTACCTTG	ACAGGAGCAAAGCTTACCTTG	-	-	ACAGGAGCAAAGCTTACCTTG	ACAGGAGCAAAGCTTACCTTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr22:18389298_18389318delACAGGAGCAAAGCTTACCTTG	uc002zng.3	-	2	617	c.264_splice	c.e2+1	p.K88_splice	MICAL3_uc011agl.1_Splice_Site_p.K88_splice|MICAL3_uc002znh.2_Splice_Site_p.K88_splice|MICAL3_uc002znk.1_Splice_Site_p.K88_splice|MICAL3_uc002znl.1_Splice_Site|MICAL3_uc010grf.2_Splice_Site_p.K88_splice|MICAL3_uc011agm.1_Splice_Site_p.K88_splice	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		CCAGGGCCCAACAGGAGCAAAGCTTACCTTGGTGTTAGTGC	0.498			NA											24	104	---	---	---	---	NA	NA	NA	NA	NA
EPHA6	285220	broad.mit.edu	37	3	97251210	97251210	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr3:97251210delG	uc010how.1	+	11	2252	c.2209delG	c.(2209-2211)GGAfs	p.G737fs	EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Frame_Shift_Del_p.G103fs|EPHA6_uc003drs.3_Frame_Shift_Del_p.G129fs|EPHA6_uc003drr.3_Frame_Shift_Del_p.G129fs|EPHA6_uc003drt.2_Frame_Shift_Del_p.G129fs|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	642	ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						AGGTGAATTTGGAGAAGTCTG	0.388			NA											8	63	---	---	---	---	NA	NA	NA	NA	NA
LZTS1	11178	broad.mit.edu	37	8	20110819	20110819	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr8:20110819delC	uc003wzr.2	-	2	734	c.623delG	c.(622-624)GGCfs	p.G208fs	LZTS1_uc010ltg.1_Frame_Shift_Del_p.G208fs	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	208					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GTGGGCGGAGCCCCCAAAACG	0.637			NA											47	82	---	---	---	---	NA	NA	NA	NA	NA
CDKN2A	1029	broad.mit.edu	37	9	21974782	21974783	+	Frame_Shift_Ins	INS	-	-	GA	rs138677674		TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:21974782_21974783insGA	uc003zpk.2	-	1	256_257	c.44_45insTC	c.(43-45)TGGfs	p.W15fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Ins_p.W15fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	15	ANK 1.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(23)|p.W15*(7)|p.S12fs*6(1)|p.L16fs*9(1)|p.W15L(1)|p.S7_A19del(1)|p.M9_A20>X(1)|p.S12fs*20(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTGGCCAGCCAGTCAGCCGA	0.757			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	26	---	---	---	---	NA	NA	NA	NA	NA
ZNF484	83744	broad.mit.edu	37	9	95609868	95609871	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-78-7148-01A-11D-2036-08	TCGA-78-7148-10A-01D-2036-08	TACT	TACT	-	-	TACT	TACT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3061bb3-7a2d-4aa1-8b7b-420e97395323	8d191fa8-2509-4103-ac4a-d2bf44dedffb	g.chr9:95609868_95609871delTACT	uc004asu.1	-	5	1347_1350	c.1198_1201delAGTA	c.(1198-1203)AGTATGfs	p.S400fs	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Frame_Shift_Del_p.S402fs|ZNF484_uc010mrb.1_Frame_Shift_Del_p.S364fs|ZNF484_uc004asv.1_Frame_Shift_Del_p.S364fs	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	400_401	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCTGATGCATACTTAGTGTTGAT	0.338			NA											14	22	---	---	---	---	NA	NA	NA	NA	NA
