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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
DNMBP	23268	broad.mit.edu	37	10	101646282	101646282	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101646282G>C	uc001kqj.2	-	c.3393C>G	c.(3391-3393)TTC>TTG	p.F1131L	DNMBP_uc010qpl.1_Missense_Mutation_p.F67L|DNMBP_uc001kqg.2_Missense_Mutation_p.F419L|DNMBP_uc001kqh.2_Missense_Mutation_p.F763L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1131	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)										0.477064	376.629981	376.732298	104	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101646282	101646282	4857	10	G	C	C	C	425	33	DNMBP	3	3
PDCD11	22984	broad.mit.edu	37	10	105191887	105191887	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105191887G>C	uc001kwy.1	+	c.3370G>C	c.(3370-3372)GAG>CAG	p.E1124Q		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1124					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)						545				0.387387	152.001837	153.234819	43	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105191887	105191887	12038	10	G	C	C	C	585	45	PDCD11	3	3
SORCS3	22986	broad.mit.edu	37	10	106970956	106970956	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106970956G>T	uc001kyi.1	+	c.2323G>T	c.(2323-2325)GCA>TCA	p.A775S	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	775	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.444444	57.769957	57.894031	20	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106970956	106970956	15432	10	G	T	T	T	442	34	SORCS3	2	2
ZDHHC6	64429	broad.mit.edu	37	10	114192186	114192186	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:114192186G>T	uc001kzv.2	-	c.1039C>A	c.(1039-1041)CCT>ACT	p.P347T	ZDHHC6_uc001kzw.2_Missense_Mutation_p.P343T	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	347						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)										0.226744	89.940256	101.729296	39	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114192186	114192186	18207	10	G	T	T	T	546	42	ZDHHC6	2	2
NRAP	4892	broad.mit.edu	37	10	115422452	115422452	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115422452C>G	uc001lal.3	-	c.241G>C	c.(241-243)GAG>CAG	p.E81Q	NRAP_uc001laj.2_Missense_Mutation_p.E81Q|NRAP_uc001lak.2_Missense_Mutation_p.E81Q	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	81	Nebulin 1.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.366667	158.869206	160.744876	44	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115422452	115422452	11043	10	C	G	G	G	416	32	NRAP	3	3
PNLIPRP1	5407	broad.mit.edu	37	10	118360714	118360714	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118360714G>T	uc001lco.1	+	c.1063_splice	c.e10+1	p.R355_splice	PNLIPRP1_uc001lcp.2_Splice_Site_SNP_p.R355_splice	NM_006229	NP_006220			pancreatic lipase-related protein 1 precursor						lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)										0.174603	25.284632	31.578748	11	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118360714	118360714	12576	10	G	T	T	T	520	40	PNLIPRP1	5	1
RGS10	6001	broad.mit.edu	37	10	121275047	121275047	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:121275047G>A	uc001leg.2	-	c.373C>T	c.(373-375)CTG>TTG	p.L125L	RGS10_uc001lee.2_Silent_p.L117L|RGS10_uc001lef.2_Silent_p.L111L	NM_001005339	NP_001005339	O43665	RGS10_HUMAN	regulator of G-protein signaling 10 isoform a	117	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)										0.534483	100.019538	100.078795	31	27	KEEP	---	---	---	---	capture		Silent	SNP	121275047	121275047	13767	10	G	A	A	A	425	33	RGS10	2	2
BTBD16	118663	broad.mit.edu	37	10	124043431	124043431	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124043431G>T	uc001lgc.1	+	c.233G>T	c.(232-234)GGG>GTG	p.G78V	BTBD16_uc001lgd.1_Missense_Mutation_p.G77V	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	78											0		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)												0.316667	50.898382	52.694573	19	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124043431	124043431	1573	10	G	T	T	T	559	43	BTBD16	2	2
DMBT1	1755	broad.mit.edu	37	10	124395614	124395614	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124395614C>T	uc001lgk.1	+	c.6269C>T	c.(6268-6270)TCT>TTT	p.S2090F	DMBT1_uc001lgl.1_Missense_Mutation_p.S2080F|DMBT1_uc001lgm.1_Missense_Mutation_p.S1462F|DMBT1_uc009xzz.1_Missense_Mutation_p.S2089F|DMBT1_uc010qtx.1_Missense_Mutation_p.S810F|DMBT1_uc009yab.1_Missense_Mutation_p.S793F|DMBT1_uc009yac.1_Missense_Mutation_p.S384F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2090	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				Ovarian(182;93 2026 18125 22222 38972)								0.230769	30.17456	33.627729	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124395614	124395614	4757	10	C	T	T	T	416	32	DMBT1	2	2
GPR26	2849	broad.mit.edu	37	10	125426265	125426265	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:125426265C>A	uc001lhh.2	+	c.342C>A	c.(340-342)TAC>TAA	p.Y114*		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	114	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity				0		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)												0.3	8.221477	8.578636	3	7	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125426265	125426265	6959	10	C	A	A	A	233	18	GPR26	5	2
FANK1	92565	broad.mit.edu	37	10	127697946	127697946	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127697946T>C	uc009yan.2	+	c.1055T>C	c.(1054-1056)GTA>GCA	p.V352A	FANK1_uc001ljh.3_Missense_Mutation_p.V326A|FANK1_uc001lji.2_3'UTR	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	326						cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)												0.238095	58.761575	64.022132	20	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127697946	127697946	5908	10	T	C	C	C	741	57	FANK1	4	4
JAKMIP3	282973	broad.mit.edu	37	10	133958651	133958651	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:133958651C>T	uc001lkx.3	+	c.1643C>T	c.(1642-1644)GCG>GTG	p.A548V	JAKMIP3_uc009yba.1_5'UTR	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)										0.25	14.03809	15.402081	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133958651	133958651	8246	10	C	T	T	T	351	27	JAKMIP3	1	1
OLAH	55301	broad.mit.edu	37	10	15107658	15107658	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15107658G>T	uc001int.2	+	c.637G>T	c.(637-639)GGA>TGA	p.G213*	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Nonsense_Mutation_p.G160*	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 1	160					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0														0.361702	97.020298	98.604282	34	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15107658	15107658	11256	10	G	T	T	T	611	47	OLAH	5	2
PCDH15	65217	broad.mit.edu	37	10	55700697	55700697	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55700697A>G	uc010qhy.1	-	c.3176T>C	c.(3175-3177)ATG>ACG	p.M1059T	PCDH15_uc010qhq.1_Missense_Mutation_p.M1059T|PCDH15_uc010qhr.1_Missense_Mutation_p.M1054T|PCDH15_uc010qhs.1_Missense_Mutation_p.M1066T|PCDH15_uc010qht.1_Missense_Mutation_p.M1061T|PCDH15_uc010qhu.1_Missense_Mutation_p.M1054T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.M1054T|PCDH15_uc010qhw.1_Missense_Mutation_p.M1017T|PCDH15_uc010qhx.1_Missense_Mutation_p.M983T|PCDH15_uc010qhz.1_Missense_Mutation_p.M1054T|PCDH15_uc010qia.1_Missense_Mutation_p.M1032T|PCDH15_uc001jju.1_Missense_Mutation_p.M1054T|PCDH15_uc010qib.1_Missense_Mutation_p.M1032T	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1054	Cadherin 10.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.132075	11.388858	18.358853	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55700697	55700697	11931	10	A	G	G	G	104	8	PCDH15	4	4
FBXO18	84893	broad.mit.edu	37	10	5955790	5955790	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5955790C>T	uc001iit.2	+	c.1445C>T	c.(1444-1446)TCT>TTT	p.S482F	FBXO18_uc001iir.2_Missense_Mutation_p.S357F|FBXO18_uc001iis.2_Missense_Mutation_p.S431F|FBXO18_uc009xig.2_Missense_Mutation_p.S357F	NM_032807	NP_116196	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 1	431					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3														0.322222	89.442362	91.968732	29	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5955790	5955790	5968	10	C	T	T	T	416	32	FBXO18	2	2
BICC1	80114	broad.mit.edu	37	10	60588570	60588570	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:60588570C>T	uc001jki.1	+	c.2844C>T	c.(2842-2844)ACC>ACT	p.T948T		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	948					multicellular organismal development		RNA binding			ovary(2)|lung(1)	3														0.25	41.676389	45.308584	16	48	KEEP	---	---	---	---	capture		Silent	SNP	60588570	60588570	1452	10	C	T	T	T	301	24	BICC1	2	2
CDK1	983	broad.mit.edu	37	10	62547906	62547906	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:62547906T>A	uc001jld.2	+	c.407T>A	c.(406-408)ATT>AAT	p.I136N	CDK1_uc010qii.1_3'UTR|CDK1_uc001jle.2_Non-coding_Transcript|CDK1_uc001jlf.2_Missense_Mutation_p.I136N|CDK1_uc001jlg.2_Intron	NM_001786	NP_001777	P06493	CDK1_HUMAN	cell division cycle 2 isoform 1	136	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1										52				0.504587	179.926193	179.928206	55	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62547906	62547906	3253	10	T	A	A	A	676	52	CDK1	3	3
CTNNA3	29119	broad.mit.edu	37	10	68280485	68280485	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:68280485G>A	uc009xpn.1	-	c.1421C>T	c.(1420-1422)GCG>GTG	p.A474V	CTNNA3_uc001jmw.2_Missense_Mutation_p.A474V|CTNNA3_uc001jmx.3_Missense_Mutation_p.A474V	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	474					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	5														0.417808	173.867979	174.72338	61	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68280485	68280485	4173	10	G	A	A	A	494	38	CTNNA3	1	1
SLC29A3	55315	broad.mit.edu	37	10	73121984	73121984	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73121984C>T	uc001jrr.3	+	c.1047C>T	c.(1045-1047)CTC>CTT	p.L349L	SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Silent_p.L203L|SLC29A3_uc001jrt.3_Silent_p.L143L|SLC29A3_uc001jru.3_Silent_p.L161L	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	349	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						Esophageal Squamous(200;1319 2142 18949 31248 39672)								0.396825	265.607414	267.965485	100	152	KEEP	---	---	---	---	capture		Silent	SNP	73121984	73121984	15033	10	C	T	T	T	366	29	SLC29A3	2	2
CC2D2B	387707	broad.mit.edu	37	10	97769676	97769676	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97769676C>A	uc010qop.1	+	c.116C>A	c.(115-117)TCT>TAT	p.S39Y	CC2D2B_uc001klk.2_Non-coding_Transcript|CC2D2B_uc001kll.2_Missense_Mutation_p.S39Y	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	39										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)										0.193548	37.089525	45.246515	18	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97769676	97769676	2849	10	C	A	A	A	416	32	CC2D2B	2	2
FAM55A	120400	broad.mit.edu	37	11	114401171	114401171	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114401171C>G	uc001ppa.2	-	c.133G>C	c.(133-135)GAA>CAA	p.E45Q	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.E187Q	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	187						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)										0.4	106.636219	107.29189	30	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114401171	114401171	5806	11	C	G	G	G	377	29	FAM55A	3	3
UBE4A	9354	broad.mit.edu	37	11	118250358	118250358	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118250358C>T	uc001psv.2	+	c.1790C>T	c.(1789-1791)TCC>TTC	p.S597F	UBE4A_uc001psw.2_Missense_Mutation_p.S590F	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	590					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|breast(1)|kidney(1)	4	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)										0.428571	105.444292	105.804184	36	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118250358	118250358	17440	11	C	T	T	T	390	30	UBE4A	2	2
OR6T1	219874	broad.mit.edu	37	11	123814374	123814374	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123814374G>T	uc010sab.1	-	c.172C>A	c.(172-174)CAG>AAG	p.Q58K		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)										0.171642	48.935853	62.595517	23	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123814374	123814374	11621	11	G	T	T	T	624	48	OR6T1	2	2
VSIG2	23584	broad.mit.edu	37	11	124621476	124621476	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124621476C>T	uc001qas.2	-	c.62G>A	c.(61-63)GGG>GAG	p.G21E	VSIG2_uc001qat.2_Missense_Mutation_p.G21E	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	21				Missing (in Ref. 1; AAD17522).		integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)										0.254902	33.002808	35.74888	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124621476	124621476	17792	11	C	T	T	T	286	22	VSIG2	2	2
PRDM10	56980	broad.mit.edu	37	11	129814846	129814846	+	Silent	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:129814846C>G	uc001qfm.2	-	c.582G>C	c.(580-582)CCG>CCC	p.P194P	PRDM10_uc001qfj.2_Silent_p.P108P|PRDM10_uc001qfk.2_Silent_p.P108P|PRDM10_uc001qfl.2_Silent_p.P108P|PRDM10_uc010sbx.1_Silent_p.P108P|PRDM10_uc001qfn.2_Silent_p.P194P|PRDM10_uc009zct.1_Silent_p.P226P	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)										0.467742	103.498664	103.55144	29	33	KEEP	---	---	---	---	capture		Silent	SNP	129814846	129814846	12893	11	C	G	G	G	392	31	PRDM10	3	3
QSER1	79832	broad.mit.edu	37	11	32990614	32990614	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32990614G>T	uc001mty.2	+	c.4743G>T	c.(4741-4743)ATG>ATT	p.M1581I	QSER1_uc001mtz.1_Missense_Mutation_p.M1342I|QSER1_uc001mua.2_Missense_Mutation_p.M1086I	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1581										ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.208955	32.910662	38.166456	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32990614	32990614	13340	11	G	T	T	T	585	45	QSER1	2	2
ALX4	60529	broad.mit.edu	37	11	44286612	44286612	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44286612G>A	uc001myb.2	-	c.1028C>T	c.(1027-1029)GCC>GTC	p.A343V		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	343					hair follicle development		transcription regulator activity				0														0.233333	12.815131	14.767686	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44286612	44286612	561	11	G	A	A	A	546	42	ALX4	2	2
OR5M9	390162	broad.mit.edu	37	11	56230566	56230566	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230566G>T	uc010rjj.1	-	c.312C>A	c.(310-312)GCC>GCA	p.A104A		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.425743	133.809097	134.294593	43	58	KEEP	---	---	---	---	capture		Silent	SNP	56230566	56230566	11587	11	G	T	T	T	496	39	OR5M9	1	1
OR52E4	390081	broad.mit.edu	37	11	5905694	5905694	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5905694C>G	uc010qzs.1	+	c.172C>G	c.(172-174)CAC>GAC	p.H58D	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.363636	199.749845	202.451347	60	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5905694	5905694	11526	11	C	G	G	G	221	17	OR52E4	3	3
OR5AN1	390195	broad.mit.edu	37	11	59132388	59132388	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59132388G>A	uc010rks.1	+	c.457G>A	c.(457-459)GGC>AGC	p.G153S		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.26178	122.240514	132.066525	50	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59132388	59132388	11553	11	G	A	A	A	611	47	OR5AN1	2	2
OR56A1	120796	broad.mit.edu	37	11	6048374	6048374	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6048374G>T	uc010qzw.1	-	c.561C>A	c.(559-561)GCC>GCA	p.A187A		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.423423	141.099877	141.669236	47	64	KEEP	---	---	---	---	capture		Silent	SNP	6048374	6048374	11543	11	G	T	T	T	600	47	OR56A1	2	2
CD6	923	broad.mit.edu	37	11	60785317	60785317	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60785317C>T	uc001nqq.2	+	c.1669C>T	c.(1669-1671)CAC>TAC	p.H557Y	CD6_uc001nqp.2_Missense_Mutation_p.H557Y|CD6_uc001nqr.2_Missense_Mutation_p.H525Y|CD6_uc001nqs.2_Non-coding_Transcript|CD6_uc001nqt.2_Missense_Mutation_p.H516Y	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	557	Cytoplasmic (Potential).				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						Pancreas(169;904 2017 4767 38890 42505)								0.463636	146.508428	146.63554	51	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60785317	60785317	3156	11	C	T	T	T	377	29	CD6	2	2
DPF2	5977	broad.mit.edu	37	11	65113779	65113779	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65113779G>T	uc001odn.2	+	c.1008G>T	c.(1006-1008)TGG>TGT	p.W336C	DPF2_uc001odm.2_Missense_Mutation_p.W322C|DPF2_uc010roe.1_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	322	PHD-type 1.				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1														0.142857	10.392769	16.41584	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65113779	65113779	4901	11	G	T	T	T	546	42	DPF2	2	2
CARNS1	57571	broad.mit.edu	37	11	67191644	67191644	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67191644C>T	uc001olc.3	+	c.2473C>T	c.(2473-2475)CGG>TGG	p.R825W	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc009yrp.2_Missense_Mutation_p.R686W	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	ATP-grasp domain containing 1	686	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding				0														0.540541	62.107735	62.161612	20	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67191644	67191644	2775	11	C	T	T	T	399	31	CARNS1	1	1
OR2AG2	338755	broad.mit.edu	37	11	6789756	6789756	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6789756C>T	uc001meq.1	-	c.433G>A	c.(433-435)GTG>ATG	p.V145M		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.450704	96.932843	97.075596	32	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6789756	6789756	11391	11	C	T	T	T	234	18	OR2AG2	2	2
TPCN2	219931	broad.mit.edu	37	11	68835056	68835056	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68835056C>T	uc001oos.2	+	c.812C>T	c.(811-813)ACG>ATG	p.T271M	TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Missense_Mutation_p.T186M|TPCN2_uc010rqg.1_Missense_Mutation_p.T271M	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	271						integral to membrane|lysosomal membrane	calcium channel activity|voltage-gated ion channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)											0.494253	125.417644	125.420161	43	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68835056	68835056	16940	11	C	T	T	T	247	19	TPCN2	1	1
ZNF214	7761	broad.mit.edu	37	11	7022088	7022088	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7022088C>T	uc001mfa.2	-	c.826G>A	c.(826-828)GGA>AGA	p.G276R	ZNF214_uc010ray.1_Missense_Mutation_p.G276R|ZNF214_uc009yfh.1_Missense_Mutation_p.G276R	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	276	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		Ovarian(22;251 657 736 21522 46864)								0.429379	241.180231	241.948258	76	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7022088	7022088	18361	11	C	T	T	T	299	23	ZNF214	1	1
ODZ4	26011	broad.mit.edu	37	11	78433860	78433860	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78433860G>T	uc001ozl.3	-	c.3653C>A	c.(3652-3654)CCC>CAC	p.P1218H		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1218	Extracellular (Potential).|NHL 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.241379	33.620784	37.160015	14	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78433860	78433860	11242	11	G	T	T	T	559	43	ODZ4	2	2
SYTL2	54843	broad.mit.edu	37	11	85428555	85428555	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85428555T>C	uc001pbb.2	-	c.2600A>G	c.(2599-2601)AAG>AGG	p.K867R	SYTL2_uc010rtg.1_Intron|SYTL2_uc010rth.1_Intron|SYTL2_uc010rti.1_Missense_Mutation_p.K545R|SYTL2_uc010rtj.1_Missense_Mutation_p.K497R|SYTL2_uc001pav.2_5'Flank|SYTL2_uc010rte.1_5'UTR|SYTL2_uc001pax.2_5'UTR|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_5'UTR|SYTL2_uc001pay.2_Intron|SYTL2_uc001paw.2_5'UTR|SYTL2_uc009yvj.2_Non-coding_Transcript|SYTL2_uc001pbd.2_Missense_Mutation_p.K867R|SYTL2_uc001pbc.2_Intron|SYTL2_uc010rtf.1_Intron	NM_206927	NP_996810	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform c	538					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)										0.380711	279.383155	281.840673	75	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85428555	85428555	16004	11	T	C	C	C	728	56	SYTL2	4	4
FAT3	120114	broad.mit.edu	37	11	92534618	92534618	+	Silent	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92534618C>G	uc001pdj.3	+	c.8439C>G	c.(8437-8439)GTC>GTG	p.V2813V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2813	Extracellular (Potential).|Cadherin 25.				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)									TCGA Ovarian(4;0.039)			0.269231	21.611995	22.862525	7	19	KEEP	---	---	---	---	capture		Silent	SNP	92534618	92534618	5927	11	C	G	G	G	405	32	FAT3	3	3
UHRF1BP1L	23074	broad.mit.edu	37	12	100451895	100451895	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100451895G>A	uc001tgq.2	-	c.3160C>T	c.(3160-3162)CCA>TCA	p.P1054S	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.P704S	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1054										ovary(1)	1														0.390805	196.733746	198.55895	68	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100451895	100451895	17527	12	G	A	A	A	533	41	UHRF1BP1L	2	2
DEPDC4	120863	broad.mit.edu	37	12	100660779	100660779	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100660779G>A	uc009ztv.1	-	c.76C>T	c.(76-78)CAG>TAG	p.Q26*	SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.2_5'Flank|DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.2_Nonsense_Mutation_p.Q26*|DEPDC4_uc001thj.1_Nonsense_Mutation_p.Q26*|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	26					intracellular signal transduction						0														0.350877	160.741769	164.099017	60	111	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100660779	100660779	4620	12	G	A	A	A	585	45	DEPDC4	5	2
UTP20	27340	broad.mit.edu	37	12	101702085	101702085	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101702085G>A	uc001tia.1	+	c.2118G>A	c.(2116-2118)GTG>GTA	p.V706V		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	706					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.319728	133.284905	137.524015	47	100	KEEP	---	---	---	---	capture		Silent	SNP	101702085	101702085	17664	12	G	A	A	A	600	47	UTP20	2	2
C12orf42	374470	broad.mit.edu	37	12	103700057	103700057	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:103700057A>T	uc001tjt.2	-	c.326T>A	c.(325-327)GTC>GAC	p.V109D	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.V109D|C12orf42_uc001tju.2_Missense_Mutation_p.V14D	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	109										ovary(1)|central_nervous_system(1)	2														0.264706	21.960096	23.661641	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103700057	103700057	1732	12	A	T	T	T	130	10	C12orf42	3	3
SLC41A2	84102	broad.mit.edu	37	12	105321916	105321916	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105321916T>A	uc001tla.2	-	c.390A>T	c.(388-390)TTA>TTT	p.L130F		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	130	Extracellular.					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)	1						Esophageal Squamous(195;176 2919 4272 35572)								0.399317	349.622281	352.21771	117	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105321916	105321916	15127	12	T	A	A	A	738	57	SLC41A2	3	3
ISCU	23479	broad.mit.edu	37	12	108959109	108959109	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108959109G>A	uc010sxc.1	+	c.241G>A	c.(241-243)GAA>AAA	p.E81K	ISCU_uc010sxa.1_Missense_Mutation_p.E81K|ISCU_uc010sxb.1_Missense_Mutation_p.E81K|ISCU_uc001tnc.3_Missense_Mutation_p.E56K|ISCU_uc009zuy.2_Missense_Mutation_p.E56K|ISCU_uc010sxd.1_Missense_Mutation_p.E81K	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme isoform	81					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold				0														0.252874	52.202728	57.031789	22	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108959109	108959109	8156	12	G	A	A	A	585	45	ISCU	2	2
MYO1H	283446	broad.mit.edu	37	12	109853404	109853404	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109853404G>T	uc010sxn.1	+	c.1528G>T	c.(1528-1530)GAG>TAG	p.E510*		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.411765	19.520823	19.636683	7	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	109853404	109853404	10470	12	G	T	T	T	429	33	MYO1H	5	2
TAS2R13	50838	broad.mit.edu	37	12	11061032	11061032	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11061032C>G	uc001qzg.1	-	c.866G>C	c.(865-867)AGA>ACA	p.R289T	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	289	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)	1														0.106227	47.461435	89.500202	29	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11061032	11061032	16089	12	C	G	G	G	416	32	TAS2R13	3	3
C12orf51	283450	broad.mit.edu	37	12	112622801	112622801	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112622801G>T	uc009zwc.2	-	c.8703C>A	c.(8701-8703)TCC>TCA	p.S2901S		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.222222	9.68987	10.967916	4	14	KEEP	---	---	---	---	capture		Silent	SNP	112622801	112622801	1740	12	G	T	T	T	444	35	C12orf51	2	2
MED13L	23389	broad.mit.edu	37	12	116413452	116413452	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:116413452G>A	uc001tvw.2	-	c.5456C>T	c.(5455-5457)GCG>GTG	p.A1819V		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1819					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)						497				0.316456	66.404503	68.740717	25	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116413452	116413452	9820	12	G	A	A	A	494	38	MED13L	1	1
MLXIP	22877	broad.mit.edu	37	12	122625515	122625515	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122625515C>G	uc001ubq.2	+	c.2523C>G	c.(2521-2523)ATC>ATG	p.I841M	MLXIP_uc001ubt.2_Missense_Mutation_p.I448M	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	841	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding|transcription regulator activity			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		Esophageal Squamous(105;787 1493 16200 18566 52466)								0.445946	120.273058	120.460203	33	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122625515	122625515	10026	12	C	G	G	G	369	29	MLXIP	3	3
IL31	386653	broad.mit.edu	37	12	122657100	122657100	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122657100A>T	uc001ubv.2	-	c.354T>A	c.(352-354)GAT>GAA	p.D118E	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	118						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)										0.371585	217.659086	220.307787	68	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122657100	122657100	7991	12	A	T	T	T	102	8	IL31	3	3
POLE	5426	broad.mit.edu	37	12	133237666	133237666	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133237666C>G	uc001uks.1	-	c.2949G>C	c.(2947-2949)AAG>AAC	p.K983N	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.K956N	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	983					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)										0.344828	417.699465	425.097439	120	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133237666	133237666	12624	12	C	G	G	G	415	32	POLE	3	3
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>A	uc001rgp.1	-	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript	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(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	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)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.5	42.688648	42.688648	15	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	A	A	A	234	18	KRAS	2	2
ITPR2	3709	broad.mit.edu	37	12	26749907	26749907	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26749907C>T	uc001rhg.2	-	c.4163G>A	c.(4162-4164)GGG>GAG	p.G1388E		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1388	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.729508	605.957051	617.610034	178	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26749907	26749907	8225	12	C	T	T	T	286	22	ITPR2	2	2
PRMT8	56341	broad.mit.edu	37	12	3686040	3686040	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:3686040G>T	uc001qmf.2	+	c.716G>T	c.(715-717)TGG>TTG	p.W239L	PRMT8_uc009zed.2_Missense_Mutation_p.W230L|PRMT8_uc009zee.1_Non-coding_Transcript|PRMT8_uc001qmg.2_Missense_Mutation_p.W53L	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	239					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)											0.746667	1815.84987	1857.447351	560	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3686040	3686040	12985	12	G	T	T	T	611	47	PRMT8	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43846211	43846211	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43846211C>A	uc010skx.1	-	c.1945G>T	c.(1945-1947)GGC>TGC	p.G649C		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	649	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.195122	34.650163	41.759473	16	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43846211	43846211	267	12	C	A	A	A	273	21	ADAMTS20	2	2
OR10AD1	121275	broad.mit.edu	37	12	48596695	48596695	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48596695G>A	uc001rrl.1	-	c.381C>T	c.(379-381)ATC>ATT	p.I127I		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.415094	63.427822	63.764181	22	31	KEEP	---	---	---	---	capture		Silent	SNP	48596695	48596695	11302	12	G	A	A	A	421	33	OR10AD1	2	2
GLS2	27165	broad.mit.edu	37	12	56881845	56881845	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56881845G>C	uc001slj.2	-	c.58C>G	c.(58-60)CGA>GGA	p.R20G	GLS2_uc009zos.2_Non-coding_Transcript|GLS2_uc001slk.2_5'UTR|GLS2_uc009zot.2_5'UTR|GLS2_uc001sll.2_Non-coding_Transcript	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	20					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)	1					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.692308	29.672794	30.099306	9	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56881845	56881845	6732	12	G	C	C	C	493	38	GLS2	3	3
ATP5B	506	broad.mit.edu	37	12	57037225	57037225	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57037225C>T	uc001slr.2	-	c.754G>A	c.(754-756)GAA>AAA	p.E252K		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	252					angiogenesis|ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1														0.296651	161.453119	169.191154	62	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57037225	57037225	1167	12	C	T	T	T	377	29	ATP5B	2	2
PRIM1	5557	broad.mit.edu	37	12	57136825	57136825	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57136825C>T	uc001smd.2	-	c.694G>A	c.(694-696)GAT>AAT	p.D232N	PRIM1_uc001sme.1_Non-coding_Transcript|PRIM1_uc009zoz.1_Non-coding_Transcript	NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1	232					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding				0														0.4	12.697803	12.78534	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57136825	57136825	12933	12	C	T	T	T	416	32	PRIM1	2	2
GLI1	2735	broad.mit.edu	37	12	57863398	57863398	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57863398T>G	uc001snx.2	+	c.1493T>G	c.(1492-1494)CTT>CGT	p.L498R	GLI1_uc009zpq.2_Missense_Mutation_p.L370R	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	498					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of gene-specific transcription|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	promoter binding|transcription activator activity|zinc ion binding			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	14			GBM - Glioblastoma multiforme(3;3.99e-32)			Pancreas(157;841 1936 10503 41495 50368)				277				0.158333	35.44787	48.801878	19	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57863398	57863398	6705	12	T	G	G	G	728	56	GLI1	4	4
IFFO1	25900	broad.mit.edu	37	12	6658970	6658970	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6658970G>A	uc010sfe.1	-	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	IFFO1_uc001qoy.2_Non-coding_Transcript|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Silent_p.C18C|IFFO1_uc001qpe.1_Non-coding_Transcript|IFFO1_uc001qpf.1_Silent_p.C341C|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Silent_p.C341C|IFFO1_uc001qpd.1_Silent_p.C341C|IFFO1_uc001qpg.2_5'Flank	NM_001039670	NP_001034759	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 4	341						intermediate filament					0														0.771739	228.063722	234.294763	71	21	KEEP	---	---	---	---	capture		Silent	SNP	6658970	6658970	7810	12	G	A	A	A	490	38	IFFO1	1	1
PTPRB	5787	broad.mit.edu	37	12	71016248	71016249	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71016248_71016249GG>AT	uc001swc.3	-	c.629_630CC>AT	c.(628-630)CCC>CAT	p.P210H	PTPRB_uc001swa.3_Missense_Mutation_p.P210H|PTPRB_uc001swd.3_Missense_Mutation_p.P209H|PTPRB_uc009zrr.1_Missense_Mutation_p.P89H|PTPRB_uc001swe.2_Missense_Mutation_p.P210H	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.273585	68.820718	73.722867	29	77	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	71016248	71016249	13253	12	GG	AT	AT	AT	600	47	PTPRB	2	2
LGR5	8549	broad.mit.edu	37	12	71978259	71978259	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71978259C>T	uc001swl.2	+	c.2469C>T	c.(2467-2469)TTC>TTT	p.F823F	LGR5_uc001swm.2_Silent_p.F799F|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	823	Helical; Name=7; (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.335484	134.035891	137.755752	52	103	KEEP	---	---	---	---	capture		Silent	SNP	71978259	71978259	9083	12	C	T	T	T	376	29	LGR5	2	2
PPFIA2	8499	broad.mit.edu	37	12	82070623	82070623	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:82070623C>A	uc001szo.1	-	c.250G>T	c.(250-252)GAT>TAT	p.D84Y	PPFIA2_uc010suj.1_Non-coding_Transcript|PPFIA2_uc009zsi.1_Non-coding_Transcript	NM_003625	NP_003616	O75334	LIPA2_HUMAN	PTPRF interacting protein alpha 2	84	Potential.				cell-matrix adhesion	cell surface|cytoplasm	protein binding			ovary(3)|lung(2)|pancreas(1)	6														0.3	31.182653	32.613234	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82070623	82070623	12740	12	C	A	A	A	390	30	PPFIA2	2	2
DIS3	22894	broad.mit.edu	37	13	73346338	73346338	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:73346338C>T	uc001vix.3	-	c.1462G>A	c.(1462-1464)GAT>AAT	p.D488N	DIS3_uc001viy.3_Missense_Mutation_p.D458N|DIS3_uc001viz.2_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	488					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding				0		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)							Multiple Myeloma(4;0.011)			0.277778	39.099905	41.500627	15	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73346338	73346338	4714	13	C	T	T	T	403	31	DIS3	1	1
AHNAK2	113146	broad.mit.edu	37	14	105411354	105411354	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105411354G>C	uc010axc.1	-	c.10434C>G	c.(10432-10434)TTC>TTG	p.F3478L	AHNAK2_uc001ypx.2_Missense_Mutation_p.F3378L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3478						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.518657	514.237189	514.318173	139	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105411354	105411354	418	14	G	C	C	C	581	45	AHNAK2	3	3
OR11H6	122748	broad.mit.edu	37	14	20692096	20692096	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20692096C>A	uc010tlc.1	+	c.228C>A	c.(226-228)CCC>CCA	p.P76P		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)										0.234848	75.152763	83.645494	31	101	KEEP	---	---	---	---	capture		Silent	SNP	20692096	20692096	11335	14	C	A	A	A	262	21	OR11H6	2	2
RNASE12	493901	broad.mit.edu	37	14	21058864	21058864	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21058864T>C	uc001vxt.2	-	c.19A>G	c.(19-21)ATT>GTT	p.I7V	RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	7						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)										0.518519	263.663351	263.704075	70	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21058864	21058864	13879	14	T	C	C	C	676	52	RNASE12	4	4
EDDM3B	64184	broad.mit.edu	37	14	21238647	21238647	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21238647G>T	uc001vyd.2	+	c.338G>T	c.(337-339)AGC>ATC	p.S113I		NM_022360	NP_071755	P56851	EP3B_HUMAN	human epididymis-specific 3 beta precursor	113					spermatid development	extracellular region				ovary(1)	1														0.480392	150.466986	150.501233	49	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21238647	21238647	5097	14	G	T	T	T	442	34	EDDM3B	2	2
MYH7	4625	broad.mit.edu	37	14	23883231	23883231	+	Silent	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23883231G>C	uc001wjx.2	-	c.5640C>G	c.(5638-5640)CGC>CGG	p.R1880R		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1880	Potential.				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)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.171053	32.629707	40.4026	13	63	KEEP	---	---	---	---	capture		Silent	SNP	23883231	23883231	10434	14	G	C	C	C	535	42	MYH7	3	3
NYNRIN	57523	broad.mit.edu	37	14	24884150	24884150	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24884150G>T	uc001wpf.3	+	c.3195G>T	c.(3193-3195)CTG>CTT	p.L1065L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1065					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.377049	125.98062	127.612528	46	76	KEEP	---	---	---	---	capture		Silent	SNP	24884150	24884150	11201	14	G	T	T	T	600	47	NYNRIN	2	2
GZMB	3002	broad.mit.edu	37	14	25100341	25100341	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:25100341G>A	uc001wps.2	-	c.680C>T	c.(679-681)CCA>CTA	p.P227L	GZMB_uc010ama.2_Missense_Mutation_p.P215L|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	227	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity				0				GBM - Glioblastoma multiforme(265;0.028)										0.264286	103.122521	110.147197	37	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25100341	25100341	7196	14	G	A	A	A	611	47	GZMB	2	2
CTAGE5	4253	broad.mit.edu	37	14	39769164	39769164	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39769164C>G	uc001wvi.3	+	c.784C>G	c.(784-786)CTA>GTA	p.L262V	CTAGE5_uc010tqe.1_Missense_Mutation_p.L219V|CTAGE5_uc001wuz.3_Missense_Mutation_p.L245V|CTAGE5_uc001wuy.3_Missense_Mutation_p.L177V|CTAGE5_uc001wvb.3_Missense_Mutation_p.L228V|CTAGE5_uc001wvc.3_Missense_Mutation_p.L202V|CTAGE5_uc001wva.3_Missense_Mutation_p.L228V|CTAGE5_uc001wve.1_Missense_Mutation_p.L233V|CTAGE5_uc001wvg.3_Missense_Mutation_p.L257V|CTAGE5_uc001wvh.3_Missense_Mutation_p.L257V|CTAGE5_uc001wvf.3_Missense_Mutation_p.L182V|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Missense_Mutation_p.L228V	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	257	Potential.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)										0.45122	140.768724	140.938437	37	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39769164	39769164	4153	14	C	G	G	G	415	32	CTAGE5	3	3
CTAGE5	4253	broad.mit.edu	37	14	39796151	39796151	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39796151C>T	uc001wvi.3	+	c.1771C>T	c.(1771-1773)CAT>TAT	p.H591Y	CTAGE5_uc010tqe.1_Missense_Mutation_p.H548Y|CTAGE5_uc001wuz.3_Missense_Mutation_p.H574Y|CTAGE5_uc001wuy.3_Missense_Mutation_p.H506Y|CTAGE5_uc001wvb.3_Missense_Mutation_p.H514Y|CTAGE5_uc001wvc.3_Missense_Mutation_p.H488Y|CTAGE5_uc001wva.3_Missense_Mutation_p.H557Y|CTAGE5_uc001wvg.3_Missense_Mutation_p.H586Y|CTAGE5_uc001wvh.3_Missense_Mutation_p.H543Y|CTAGE5_uc001wvf.3_Missense_Mutation_p.H511Y|CTAGE5_uc010amz.2_Missense_Mutation_p.H202Y|CTAGE5_uc001wvj.3_Missense_Mutation_p.H557Y	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	586	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)										0.40625	107.795957	108.535721	39	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39796151	39796151	4153	14	C	T	T	T	377	29	CTAGE5	2	2
LRFN5	145581	broad.mit.edu	37	14	42356779	42356779	+	Silent	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42356779A>T	uc001wvm.2	+	c.951A>T	c.(949-951)GCA>GCT	p.A317A	LRFN5_uc010ana.2_Silent_p.A317A	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	317	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.302857	150.410552	156.480526	53	122	KEEP	---	---	---	---	capture		Silent	SNP	42356779	42356779	9314	14	A	T	T	T	54	5	LRFN5	3	3
TRIM9	114088	broad.mit.edu	37	14	51561379	51561379	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51561379C>T	uc001wyy.2	-	c.279G>A	c.(277-279)CAG>CAA	p.Q93Q	TRIM9_uc001wyx.3_Silent_p.Q93Q|TRIM9_uc001wyz.3_Silent_p.Q93Q	NM_052978	NP_443210	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 2	93					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|skin(1)	2	all_epithelial(31;0.00418)|Breast(41;0.148)													0.35	20.618557	21.015788	7	13	KEEP	---	---	---	---	capture		Silent	SNP	51561379	51561379	17099	14	C	T	T	T	415	32	TRIM9	2	2
TXNDC16	57544	broad.mit.edu	37	14	52936818	52936818	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52936818T>A	uc001wzs.2	-	c.1555A>T	c.(1555-1557)AAA>TAA	p.K519*	TXNDC16_uc010tqu.1_Nonsense_Mutation_p.K514*|TXNDC16_uc010aoe.2_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	519					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)													0.463768	97.594212	97.672915	32	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52936818	52936818	17351	14	T	A	A	A	793	61	TXNDC16	5	3
C14orf39	317761	broad.mit.edu	37	14	60938435	60938435	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60938435A>G	uc001xez.3	-	c.346T>C	c.(346-348)TGT>CGT	p.C116R	C14orf39_uc010apo.2_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	116										ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0448)										0.580645	67.256459	67.432666	18	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60938435	60938435	1822	14	A	G	G	G	104	8	C14orf39	4	4
SLC39A9	55334	broad.mit.edu	37	14	69908952	69908952	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69908952G>A	uc001xle.2	+	c.372G>A	c.(370-372)CAG>CAA	p.Q124Q	SLC39A9_uc010aqx.2_Silent_p.Q124Q|SLC39A9_uc001xlf.3_Silent_p.Q124Q|SLC39A9_uc001xlg.3_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	solute carrier family 39 (zinc transporter),	124	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity				0				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)										0.177122	103.692352	130.369317	48	223	KEEP	---	---	---	---	capture		Silent	SNP	69908952	69908952	15122	14	G	A	A	A	425	33	SLC39A9	2	2
KIAA0317	9870	broad.mit.edu	37	14	75142577	75142577	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75142577T>C	uc001xqb.2	-	c.905A>G	c.(904-906)TAT>TGT	p.Y302C	KIAA0317_uc010tut.1_Missense_Mutation_p.Y141C|KIAA0317_uc001xqc.2_Missense_Mutation_p.Y302C	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	302					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)										0.188525	129.628332	151.760682	46	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75142577	75142577	8474	14	T	C	C	C	637	49	KIAA0317	4	4
TSHR	7253	broad.mit.edu	37	14	81610058	81610058	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81610058C>T	uc001xvd.1	+	c.1656C>T	c.(1654-1656)CTC>CTT	p.L552L		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	552	Helical; Name=4; (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)	298				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)					868				0.18125	59.08627	74.358377	29	131	KEEP	---	---	---	---	capture		Silent	SNP	81610058	81610058	17173	14	C	T	T	T	392	31	TSHR	1	1
SETD3	84193	broad.mit.edu	37	14	99879343	99879343	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:99879343C>A	uc001ygc.2	-	c.794G>T	c.(793-795)CGC>CTC	p.R265L	SETD3_uc001ygd.2_Missense_Mutation_p.R265L|SETD3_uc001ygf.2_Missense_Mutation_p.R265L	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	265	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)												0.365079	68.315332	69.320942	23	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99879343	99879343	14621	14	C	A	A	A	351	27	SETD3	1	1
C15orf2	23742	broad.mit.edu	37	15	24922567	24922567	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922567C>A	uc001ywo.2	+	c.1553C>A	c.(1552-1554)TCT>TAT	p.S518Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	518	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.572549	438.435498	439.598269	146	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922567	24922567	1834	15	C	A	A	A	416	32	C15orf2	2	2
DLL4	54567	broad.mit.edu	37	15	41222082	41222082	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41222082A>G	uc001zng.1	+	c.104A>G	c.(103-105)CAG>CGG	p.Q35R		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	35	Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding				0		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)						135				0.666667	31.874987	32.221587	10	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41222082	41222082	4748	15	A	G	G	G	91	7	DLL4	4	4
IGDCC3	9543	broad.mit.edu	37	15	65622919	65622919	+	Silent	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65622919T>C	uc002aos.2	-	c.1722A>G	c.(1720-1722)GGA>GGG	p.G574G	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	574	Extracellular (Potential).|Fibronectin type-III 2.									ovary(3)	3														0.435294	127.575592	127.883061	37	48	KEEP	---	---	---	---	capture		Silent	SNP	65622919	65622919	7869	15	T	C	C	C	795	62	IGDCC3	4	4
TMED3	23423	broad.mit.edu	37	15	79606204	79606204	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79606204G>T	uc002beu.2	+	c.274G>T	c.(274-276)GCT>TCT	p.A92S	TMED3_uc010unj.1_Missense_Mutation_p.A92S|TMED3_uc002bev.2_Non-coding_Transcript	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 domain containing 3	92	Lumenal (Potential).|GOLD.				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				ovary(1)	1														0.365854	167.274755	169.8621	60	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79606204	79606204	16535	15	G	T	T	T	546	42	TMED3	2	2
ALPK3	57538	broad.mit.edu	37	15	85401093	85401093	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85401093G>A	uc002ble.2	+	c.3730G>A	c.(3730-3732)GGC>AGC	p.G1244S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1244					heart development|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	8			BRCA - Breast invasive adenocarcinoma(143;0.0587)							343				0.264706	23.153604	24.860202	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85401093	85401093	549	15	G	A	A	A	507	39	ALPK3	1	1
NTRK3	4916	broad.mit.edu	37	15	88678610	88678610	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88678610C>A	uc002bme.1	-	c.926G>T	c.(925-927)AGC>ATC	p.S309I	NTRK3_uc002bmh.2_Missense_Mutation_p.S309I|NTRK3_uc002bmf.1_Missense_Mutation_p.S309I|NTRK3_uc010upl.1_Missense_Mutation_p.S211I|NTRK3_uc010bnh.1_Missense_Mutation_p.S309I|NTRK3_uc002bmg.2_Missense_Mutation_p.S309I	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	309	Ig-like C2-type 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)							506	TSP Lung(13;0.10)			0.313433	50.941554	53.022468	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88678610	88678610	11113	15	C	A	A	A	364	28	NTRK3	2	2
SV2B	9899	broad.mit.edu	37	15	91827441	91827441	+	Silent	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91827441C>G	uc002bqv.2	+	c.1698C>G	c.(1696-1698)CTC>CTG	p.L566L	SV2B_uc010uqv.1_Silent_p.L415L|SV2B_uc002bqu.3_Non-coding_Transcript	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	566	Helical; (Potential).				neurotransmitter transport|transmembrane transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|central_nervous_system(2)	5	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)											0.320312	136.233956	139.903333	41	87	KEEP	---	---	---	---	capture		Silent	SNP	91827441	91827441	15938	15	C	G	G	G	366	29	SV2B	3	3
PDILT	204474	broad.mit.edu	37	16	20380967	20380967	+	Silent	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20380967A>T	uc002dhc.1	-	c.963T>A	c.(961-963)CGT>CGA	p.R321R		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	321					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.3	133.87178	139.940671	51	119	KEEP	---	---	---	---	capture		Silent	SNP	20380967	20380967	12095	16	A	T	T	T	67	6	PDILT	3	3
ACSM5	54988	broad.mit.edu	37	16	20430688	20430688	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20430688C>A	uc002dhe.2	+	c.554C>A	c.(553-555)TCC>TAC	p.S185Y	ACSM5_uc002dhd.1_Missense_Mutation_p.S185Y	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	185					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2														0.289157	55.9612	59.272508	24	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20430688	20430688	188	16	C	A	A	A	390	30	ACSM5	2	2
ACSM3	6296	broad.mit.edu	37	16	20788795	20788795	+	Silent	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20788795A>G	uc010vba.1	+	c.507A>G	c.(505-507)TTA>TTG	p.L169L	ACSM3_uc002dhq.2_Silent_p.L177L|ACSM3_uc002dhr.2_Silent_p.L177L	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	177					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1														0.312977	130.729557	134.807007	41	90	KEEP	---	---	---	---	capture		Silent	SNP	20788795	20788795	186	16	A	G	G	G	193	15	ACSM3	4	4
ABCA3	21	broad.mit.edu	37	16	2347904	2347904	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2347904G>A	uc002cpy.1	-	c.1915C>T	c.(1915-1917)CAG>TAG	p.Q639*	ABCA3_uc010bsk.1_Nonsense_Mutation_p.Q581*|ABCA3_uc010bsl.1_Nonsense_Mutation_p.Q639*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	639	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|breast(3)|central_nervous_system(3)	10		Ovarian(90;0.17)								701				0.453901	188.318162	188.586252	64	77	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2347904	2347904	34	16	G	A	A	A	585	45	ABCA3	5	2
SEPT1	1731	broad.mit.edu	37	16	30391340	30391340	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30391340C>T	uc002dxy.2	-	c.573G>A	c.(571-573)TTG>TTA	p.L191L	SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Silent_p.L16L|SEPT1_uc010veq.1_3'UTR	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	191					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)											0.367521	113.881254	115.691396	43	74	KEEP	---	---	---	---	capture		Silent	SNP	30391340	30391340	14545	16	C	T	T	T	376	29	SEPT1	2	2
PDP2	57546	broad.mit.edu	37	16	66918316	66918316	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66918316C>T	uc002eqk.1	+	c.129C>T	c.(127-129)TCC>TCT	p.S43S		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	43					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)										0.12381	31.892943	60.973292	26	184	KEEP	---	---	---	---	capture		Silent	SNP	66918316	66918316	12107	16	C	T	T	T	275	22	PDP2	2	2
EDC4	23644	broad.mit.edu	37	16	67911274	67911274	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67911274C>T	uc002eur.2	+	c.606C>T	c.(604-606)TTC>TTT	p.F202F	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Silent_p.F134F|EDC4_uc010ces.1_Silent_p.F45F|EDC4_uc002eus.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	202	WD 1.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)										0.621053	181.814576	183.03318	59	36	KEEP	---	---	---	---	capture		Silent	SNP	67911274	67911274	5095	16	C	T	T	T	402	31	EDC4	1	1
SF3B3	23450	broad.mit.edu	37	16	70573038	70573039	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70573038_70573039CT>AA	uc002ezf.2	+	c.995_996CT>AA	c.(994-996)ACT>AAA	p.T332K		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	332					nuclear mRNA splicing, via spliceosome|protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)												0.107527	15.884633	44.307493	20	166	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	70573038	70573039	14641	16	CT	AA	AA	AA	260	20	SF3B3	2	2
CHST5	23563	broad.mit.edu	37	16	75563474	75563474	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75563474C>A	uc002fej.1	-	c.827G>T	c.(826-828)AGC>ATC	p.S276I	CHST5_uc002fei.2_Missense_Mutation_p.S270I	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	270	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0														0.183099	24.628342	31.326771	13	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75563474	75563474	3541	16	C	A	A	A	364	28	CHST5	2	2
A2BP1	54715	broad.mit.edu	37	16	7703845	7703845	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:7703845C>A	uc010uxz.1	+	c.915C>A	c.(913-915)ACC>ACA	p.T305T	A2BP1_uc010buf.1_Silent_p.T262T|A2BP1_uc002cyr.1_Silent_p.T261T|A2BP1_uc002cys.2_Silent_p.T262T|A2BP1_uc002cyt.2_Silent_p.T235T|A2BP1_uc010uya.1_Silent_p.T219T|A2BP1_uc002cyv.1_Silent_p.T262T|A2BP1_uc010uyb.1_Silent_p.T262T|A2BP1_uc002cyw.2_Silent_p.T282T|A2BP1_uc002cyy.2_Silent_p.T282T|A2BP1_uc002cyx.2_Silent_p.T282T|A2BP1_uc010uyc.1_Silent_p.T255T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	262					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)										0.291667	15.874998	16.774353	7	17	KEEP	---	---	---	---	capture		Silent	SNP	7703845	7703845	3	16	C	A	A	A	288	23	A2BP1	1	1
ADAMTS18	170692	broad.mit.edu	37	16	77401460	77401460	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77401460C>A	uc002ffc.3	-	c.656G>T	c.(655-657)GGC>GTC	p.G219V	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	219					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.555556	148.992161	149.24367	50	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77401460	77401460	264	16	C	A	A	A	338	26	ADAMTS18	2	2
USP7	7874	broad.mit.edu	37	16	8993022	8993022	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:8993022C>A	uc002czl.2	-	c.2487G>T	c.(2485-2487)AGG>AGT	p.R829S	USP7_uc010uyk.1_Missense_Mutation_p.R730S|USP7_uc002czj.2_Non-coding_Transcript|USP7_uc010uyj.1_Missense_Mutation_p.R730S|USP7_uc002czk.2_Missense_Mutation_p.R813S	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	829					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3														0.29703	75.603566	79.328516	30	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8993022	8993022	17652	16	C	A	A	A	337	26	USP7	2	2
MYH1	4619	broad.mit.edu	37	17	10419599	10419599	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10419599C>A	uc002gmo.2	-	c.265G>T	c.(265-267)GAG>TAG	p.E89*		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	89	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15									p.E89*(HCT116-Tumor)	585				0.515528	251.0146	251.048056	83	78	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10419599	10419599	10424	17	C	A	A	A	403	31	MYH1	5	1
MYH1	4619	broad.mit.edu	37	17	10419608	10419608	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10419608C>A	uc002gmo.2	-	c.256G>T	c.(256-258)GAC>TAC	p.D86Y		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	86	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.515337	250.114659	250.145037	84	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10419608	10419608	10424	17	C	A	A	A	377	29	MYH1	2	2
DNAH9	1770	broad.mit.edu	37	17	11725838	11725838	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11725838C>A	uc002gne.2	+	c.8934C>A	c.(8932-8934)ATC>ATA	p.I2978I	DNAH9_uc010coo.2_Silent_p.I2272I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2978	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.641221	250.700221	252.991911	84	47	KEEP	---	---	---	---	capture		Silent	SNP	11725838	11725838	4791	17	C	A	A	A	382	30	DNAH9	2	2
ZNF624	57547	broad.mit.edu	37	17	16527059	16527059	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16527059T>C	uc010cpi.1	-	c.1141A>G	c.(1141-1143)ATT>GTT	p.I381V		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	381	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		NSCLC(186;1023 2134 13330 38202 39800)								0.637097	302.862761	304.914568	79	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16527059	16527059	18643	17	T	C	C	C	676	52	ZNF624	4	4
MYO15A	51168	broad.mit.edu	37	17	18023155	18023155	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18023155G>A	uc010vxh.1	+	c.1041G>A	c.(1039-1041)GCG>GCA	p.A347A		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	347	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.119048	10.927328	22.86598	10	74	KEEP	---	---	---	---	capture		Silent	SNP	18023155	18023155	10458	17	G	A	A	A	483	38	MYO15A	1	1
EPN2	22905	broad.mit.edu	37	17	19232056	19232056	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19232056G>T	uc002gvd.3	+	c.1180G>T	c.(1180-1182)GGG>TGG	p.G394W	EPN2_uc010cql.1_Missense_Mutation_p.G103W|EPN2_uc002gve.3_Missense_Mutation_p.G337W|EPN2_uc002gvf.3_Missense_Mutation_p.G109W|EPN2_uc010vyo.1_Missense_Mutation_p.G102W|EPN2_uc010vyp.1_Missense_Mutation_p.G330W|EPN2_uc010vyq.1_Missense_Mutation_p.G331W|EPN2_uc002gvh.1_Missense_Mutation_p.G394W|EPN2_uc002gvj.3_Missense_Mutation_p.G57W	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	394	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding				0	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)													0.24	31.26367	35.948746	18	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19232056	19232056	5379	17	G	T	T	T	559	43	EPN2	2	2
MSL1	339287	broad.mit.edu	37	17	38287837	38287837	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38287837G>A	uc002hub.2	+	c.820G>A	c.(820-822)GTT>ATT	p.V274I	MSL1_uc002hua.3_Missense_Mutation_p.V212I|MSL1_uc002hud.2_Missense_Mutation_p.V14I	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	hampin	475					histone H4-K16 acetylation	MSL complex					0														0.287611	187.677996	196.823046	65	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38287837	38287837	10270	17	G	A	A	A	611	47	MSL1	2	2
MPP2	4355	broad.mit.edu	37	17	41958159	41958159	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41958159C>A	uc010wip.1	-	c.1185G>T	c.(1183-1185)CGG>CGT	p.R395R	MPP2_uc002ien.1_Silent_p.R367R|MPP2_uc010wim.1_Silent_p.R339R|MPP2_uc002ieo.1_Silent_p.R350R|MPP2_uc010win.1_Silent_p.R211R|MPP2_uc010wio.1_Silent_p.R339R	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	374	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)								OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.42268	112.733944	113.220045	41	56	KEEP	---	---	---	---	capture		Silent	SNP	41958159	41958159	10126	17	C	A	A	A	379	30	MPP2	2	2
KIF2B	84643	broad.mit.edu	37	17	51901812	51901812	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901812A>G	uc002iua.2	+	c.1418A>G	c.(1417-1419)AAG>AGG	p.K473R		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	473	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.260274	58.991739	62.789179	19	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51901812	51901812	8609	17	A	G	G	G	39	3	KIF2B	4	4
PRKCA	5578	broad.mit.edu	37	17	64299089	64299089	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64299089C>A	uc002jfp.1	+	c.120C>A	c.(118-120)ATC>ATA	p.I40I	PRKCA_uc002jfo.1_5'UTR	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	40	Phorbol-ester/DAG-type 1.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|ovary(1)	7			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)					554				0.417582	100.216164	100.758545	38	53	KEEP	---	---	---	---	capture		Silent	SNP	64299089	64299089	12950	17	C	A	A	A	395	31	PRKCA	1	1
BPTF	2186	broad.mit.edu	37	17	65850144	65850144	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65850144G>T	uc002jgf.2	+	c.702G>T	c.(700-702)GAG>GAT	p.E234D	BPTF_uc002jge.2_Missense_Mutation_p.E234D|BPTF_uc010wqm.1_Missense_Mutation_p.E234D	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	234					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)											0.360731	226.459344	230.200726	79	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65850144	65850144	1523	17	G	T	T	T	451	35	BPTF	2	2
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578403C>T	uc002gim.2	-	c.527G>A	c.(526-528)TGC>TAC	p.C176Y	TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.2_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.1_Missense_Mutation_p.C137Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.C176F(102)|p.C176Y(52)|p.C176S(8)|p.0?(6)|p.C176_R181delCPHHER(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*23(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.R174fs(THP1-Tumor)|p.C176F(NCIH2122-Tumor)|p.C176F(SKES1-Tumor)|p.C176Y(NCIH1651-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.567568	53.661872	53.807733	21	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578403	7578403	16923	17	C	T	T	T	325	25	TP53	2	2
LAMA3	3909	broad.mit.edu	37	18	21474925	21474925	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21474925A>C	uc002kuq.2	+	c.5516A>C	c.(5515-5517)CAG>CCG	p.Q1839P	LAMA3_uc002kur.2_Missense_Mutation_p.Q1839P|LAMA3_uc002kus.3_Missense_Mutation_p.Q230P|LAMA3_uc002kut.3_Missense_Mutation_p.Q230P	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1839	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.388889	23.333142	23.523435	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21474925	21474925	8930	18	A	C	C	C	91	7	LAMA3	4	4
ASXL3	80816	broad.mit.edu	37	18	31325019	31325019	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31325019C>A	uc010dmg.1	+	c.5207C>A	c.(5206-5208)TCA>TAA	p.S1736*	ASXL3_uc002kxq.2_Nonsense_Mutation_p.S1443*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.55	64.344534	64.430598	22	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31325019	31325019	1087	18	C	A	A	A	377	29	ASXL3	5	2
SETBP1	26040	broad.mit.edu	37	18	42532073	42532073	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42532073T>A	uc010dni.2	+	c.2768T>A	c.(2767-2769)ATT>AAT	p.I923N		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	923						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.487179	59.421647	59.427251	19	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42532073	42532073	14617	18	T	A	A	A	676	52	SETBP1	3	3
KEAP1	9817	broad.mit.edu	37	19	10600419	10600419	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10600419T>C	uc002moq.1	-	c.1436A>G	c.(1435-1437)GAC>GGC	p.D479G	KEAP1_uc002mop.1_Missense_Mutation_p.D197G|KEAP1_uc002mor.1_Missense_Mutation_p.D479G	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	479	Kelch 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.482759	101.001934	101.016696	28	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10600419	10600419	8447	19	T	C	C	C	754	58	KEAP1	4	4
STK11	6794	broad.mit.edu	37	19	1207078	1207078	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1207078G>T	uc002lrl.1	+	c.166G>T	c.(166-168)GGG>TGG	p.G56W		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	56	ATP (By similarity).|Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|protein phosphorylation|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.G56V(1)|p.G56W(1)|p.G56fs*107(1)|p.?(1)|p.G56fs*4(1)|p.G52_P179del(1)		lung(162)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|ovary(4)|stomach(3)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|breast(1)|oesophagus(1)|prostate(1)|kidney(1)	252		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)				14		1341	TSP Lung(3;<1E-8)			0.548387	51.073794	51.136514	17	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1207078	1207078	15807	19	G	T	T	T	559	43	STK11	2	2
CLEC17A	388512	broad.mit.edu	37	19	14710915	14710915	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14710915C>T	uc010dzo.1	+	c.815C>T	c.(814-816)ACC>ATC	p.T272I	CLEC17A_uc002mzh.1_Missense_Mutation_p.T255I|CLEC17A_uc010xnt.1_Non-coding_Transcript|CLEC17A_uc010dzn.1_Missense_Mutation_p.T272I|CLEC17A_uc010xnu.1_Intron	NM_207390	NP_997273	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	272	C-type lectin.|Extracellular (Potential).					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity				0														0.608696	88.207366	88.683145	28	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14710915	14710915	3638	19	C	T	T	T	234	18	CLEC17A	2	2
SLC1A6	6511	broad.mit.edu	37	19	15083694	15083694	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15083694A>G	uc002naa.1	-	c.29T>C	c.(28-30)CTT>CCT	p.L10P	SLC1A6_uc010dzu.1_Missense_Mutation_p.L10P|SLC1A6_uc010xod.1_Silent_p.P14P|SLC1A6_uc002nab.2_Missense_Mutation_p.L10P|SLC1A6_uc002nac.2_Missense_Mutation_p.L10P|SLC1A6_uc002nad.1_Missense_Mutation_p.L10P	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	10	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)	5					L-Glutamic Acid(DB00142)									0.5	6.650016	6.650015	2	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15083694	15083694	14932	19	A	G	G	G	91	7	SLC1A6	4	4
PLVAP	83483	broad.mit.edu	37	19	17476412	17476412	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17476412G>T	uc002ngk.1	-	c.862C>A	c.(862-864)CGG>AGG	p.R288R		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	288	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0														0.5	47.957897	47.957897	16	16	KEEP	---	---	---	---	capture		Silent	SNP	17476412	17476412	12542	19	G	T	T	T	506	39	PLVAP	1	1
ZNF85	7639	broad.mit.edu	37	19	21132566	21132566	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21132566C>A	uc002npg.3	+	c.1246C>A	c.(1246-1248)CAT>AAT	p.H416N	ZNF85_uc010ecn.2_Missense_Mutation_p.H351N|ZNF85_uc010eco.2_Missense_Mutation_p.H364N|ZNF85_uc002npi.2_Missense_Mutation_p.H357N	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	416	C2H2-type 10.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1														0.222222	14.233841	16.151854	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21132566	21132566	18795	19	C	A	A	A	221	17	ZNF85	2	2
TSHZ3	57616	broad.mit.edu	37	19	31768902	31768902	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768902C>T	uc002nsy.3	-	c.1797G>A	c.(1795-1797)ACG>ACA	p.T599T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	599					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.552	206.067242	206.359701	69	56	KEEP	---	---	---	---	capture		Silent	SNP	31768902	31768902	17176	19	C	T	T	T	236	19	TSHZ3	1	1
FCGBP	8857	broad.mit.edu	37	19	40419930	40419930	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40419930C>A	uc002omp.3	-	c.3064G>T	c.(3064-3066)GCT>TCT	p.A1022S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1022	VWFD 2.					extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)											0.636364	82.915054	83.642363	28	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40419930	40419930	6015	19	C	A	A	A	364	28	FCGBP	2	2
ZNF780A	284323	broad.mit.edu	37	19	40581599	40581599	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40581599T>A	uc010xvh.1	-	c.753A>T	c.(751-753)GAA>GAT	p.E251D	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omy.2_Missense_Mutation_p.E250D|ZNF780A_uc002omz.2_Missense_Mutation_p.E250D	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	zinc finger protein 780A isoform a	250	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.573099	313.858645	314.657282	98	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40581599	40581599	18750	19	T	A	A	A	673	52	ZNF780A	3	3
POU2F2	5452	broad.mit.edu	37	19	42600252	42600252	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42600252G>C	uc002osp.2	-	c.645C>G	c.(643-645)ATC>ATG	p.I215M	POU2F2_uc002osn.2_Missense_Mutation_p.I199M|POU2F2_uc002oso.2_De_novo_Start_InFrame|POU2F2_uc002osq.2_Missense_Mutation_p.I199M|POU2F2_uc002osr.1_Missense_Mutation_p.I215M	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	215	POU-specific.				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|skin(1)	2		Prostate(69;0.059)												0.368421	23.019824	23.309088	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42600252	42600252	12702	19	G	C	C	C	577	45	POU2F2	3	3
ZNF224	7767	broad.mit.edu	37	19	44605073	44605073	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44605073C>T	uc002oyh.1	+	c.135C>T	c.(133-135)CTC>CTT	p.L45L		NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|transcription repressor activity|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)												0.230263	89.669135	99.791797	35	117	KEEP	---	---	---	---	capture		Silent	SNP	44605073	44605073	18369	19	C	T	T	T	405	32	ZNF224	2	2
APOE	348	broad.mit.edu	37	19	45411925	45411925	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45411925G>T	uc002pab.2	+	c.372G>T	c.(370-372)GCG>GCT	p.A124A		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	124	3.|8 X 22 AA approximate tandem repeats.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)									0.6	9.525758	9.569435	3	2	KEEP	---	---	---	---	capture		Silent	SNP	45411925	45411925	813	19	G	T	T	T	496	39	APOE	1	1
EML2	24139	broad.mit.edu	37	19	46124826	46124826	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46124826C>A	uc010xxm.1	-	c.1514G>T	c.(1513-1515)CGG>CTG	p.R505L	EML2_uc002pcn.2_Missense_Mutation_p.R304L|EML2_uc002pco.2_Non-coding_Transcript|EML2_uc002pcp.2_Missense_Mutation_p.R188L|EML2_uc010xxl.1_Missense_Mutation_p.R451L|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.1_Missense_Mutation_p.R304L|EML2_uc010ekj.2_Missense_Mutation_p.G271W	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	304	WD 5.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)										0.204545	21.753737	25.314884	9	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46124826	46124826	5289	19	C	A	A	A	299	23	EML2	1	1
CEACAM18	729767	broad.mit.edu	37	19	51986489	51986489	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51986489G>T	uc002pwv.1	+	c.1075G>T	c.(1075-1077)GTG>TTG	p.V359L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	359	Ig-like C2-type.					integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.544304	137.416788	137.550352	43	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51986489	51986489	3322	19	G	T	T	T	624	48	CEACAM18	2	2
HNRNPM	4670	broad.mit.edu	37	19	8550658	8550658	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8550658G>T	uc010dwe.2	+	c.1346G>T	c.(1345-1347)CGC>CTC	p.R449L	HNRNPM_uc010xke.1_Missense_Mutation_p.R395L|HNRNPM_uc010dwd.2_Missense_Mutation_p.R410L|HNRNPM_uc002mka.2_Missense_Mutation_p.R314L|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	449	7.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0														0.526718	215.383969	215.466941	69	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8550658	8550658	7563	19	G	T	T	T	494	38	HNRNPM	1	1
MUC16	94025	broad.mit.edu	37	19	9086155	9086155	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9086155G>C	uc002mkp.2	-	c.5660C>G	c.(5659-5661)TCT>TGT	p.S1887C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1887	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.478261	80.446378	80.465376	22	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9086155	9086155	10367	19	G	C	C	C	429	33	MUC16	3	3
OR7E24	26648	broad.mit.edu	37	19	9361887	9361887	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9361887G>A	uc002mlb.1	+	c.168G>A	c.(166-168)ACG>ACA	p.T56T		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	56	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.615385	104.213414	104.822294	32	20	KEEP	---	---	---	---	capture		Silent	SNP	9361887	9361887	11632	19	G	A	A	A	496	39	OR7E24	1	1
EPS8L3	79574	broad.mit.edu	37	1	110293406	110293406	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110293406C>A	uc001dyq.1	-	c.1649G>T	c.(1648-1650)AGG>ATG	p.R550M	EPS8L3_uc001dys.1_Missense_Mutation_p.R519M|EPS8L3_uc001dyr.1_Missense_Mutation_p.R549M|EPS8L3_uc009wfm.1_Missense_Mutation_p.R486M	NM_139053	NP_620641	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	549						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)										0.228571	18.879938	21.246633	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110293406	110293406	5390	1	C	A	A	A	312	24	EPS8L3	2	2
SLC6A17	388662	broad.mit.edu	37	1	110709673	110709673	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110709673C>T	uc009wfq.2	+	c.122C>T	c.(121-123)GCT>GTT	p.A41V		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	41	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)										0.615385	26.2022	26.353659	8	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110709673	110709673	15177	1	C	T	T	T	364	28	SLC6A17	2	2
C1orf187	374946	broad.mit.edu	37	1	11766418	11766418	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11766418C>A	uc001asr.1	+	c.103C>A	c.(103-105)CGG>AGG	p.R35R		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	35					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)										0.173913	6.478856	8.800395	4	19	KEEP	---	---	---	---	capture		Silent	SNP	11766418	11766418	2089	1	C	A	A	A	295	23	C1orf187	1	1
TBX15	6913	broad.mit.edu	37	1	119427674	119427674	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119427674C>A	uc001ehl.1	-	c.1172G>T	c.(1171-1173)GGG>GTG	p.G391V	TBX15_uc009whj.1_Missense_Mutation_p.G215V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	497					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)										0.176471	11.063028	14.391328	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119427674	119427674	16178	1	C	A	A	A	286	22	TBX15	2	2
HIST2H2BE	8349	broad.mit.edu	37	1	149858184	149858184	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149858184C>G	uc001etc.2	-	c.7G>C	c.(7-9)GAA>CAA	p.E3Q	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)											0.205882	58.91856	67.098139	21	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149858184	149858184	7466	1	C	G	G	G	377	29	HIST2H2BE	3	3
KAZ	23254	broad.mit.edu	37	1	15420685	15420685	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15420685G>T	uc001avm.3	+	c.1232G>T	c.(1231-1233)AGC>ATC	p.S411I		NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	411					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0														0.4	32.690683	32.953956	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15420685	15420685	8292	1	G	T	T	T	442	34	KAZ	2	2
PBXIP1	57326	broad.mit.edu	37	1	154923837	154923837	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154923837G>A	uc001ffr.2	-	c.280C>T	c.(280-282)CCT>TCT	p.P94S	PBXIP1_uc001ffs.2_Missense_Mutation_p.P65S|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_Non-coding_Transcript	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	94					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)											0.288462	81.003786	85.17856	30	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154923837	154923837	11916	1	G	A	A	A	533	41	PBXIP1	2	2
BCAN	63827	broad.mit.edu	37	1	156626175	156626175	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156626175G>T	uc001fpp.2	+	c.2044G>T	c.(2044-2046)GAT>TAT	p.D682Y		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	682	EGF-like.				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)													0.296774	112.347381	118.102829	46	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156626175	156626175	1366	1	G	T	T	T	481	37	BCAN	1	1
OR10K2	391107	broad.mit.edu	37	1	158389727	158389727	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158389727G>A	uc010pii.1	-	c.930C>T	c.(928-930)TCC>TCT	p.S310S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.310811	62.157598	64.541306	23	51	KEEP	---	---	---	---	capture		Silent	SNP	158389727	158389727	11320	1	G	A	A	A	548	43	OR10K2	2	2
SPTA1	6708	broad.mit.edu	37	1	158618419	158618419	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158618419C>T	uc001fst.1	-	c.3594G>A	c.(3592-3594)CAG>CAA	p.Q1198Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1198	Spectrin 12.				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)|breast(1)	5	all_hematologic(112;0.0378)													0.145695	39.540263	57.776211	22	129	KEEP	---	---	---	---	capture		Silent	SNP	158618419	158618419	15630	1	C	T	T	T	415	32	SPTA1	2	2
B4GALT3	8703	broad.mit.edu	37	1	161141691	161141691	+	Missense_Mutation	SNP	C	T	T	rs111614721		TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161141691C>T	uc001fyq.1	-	c.1097G>A	c.(1096-1098)CGT>CAT	p.R366H	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.R146H|B4GALT3_uc001fyp.1_Non-coding_Transcript|B4GALT3_uc001fyr.1_Missense_Mutation_p.R366H|B4GALT3_uc001fys.1_Missense_Mutation_p.R366H	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	366	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)									0.111111	12.375117	33.972638	16	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161141691	161141691	1293	1	C	T	T	T	247	19	B4GALT3	1	1
SPEN	23013	broad.mit.edu	37	1	16261724	16261724	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16261724G>A	uc001axk.1	+	c.8989G>A	c.(8989-8991)GAA>AAA	p.E2997K	SPEN_uc010obp.1_Missense_Mutation_p.E2956K	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2997					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)						551				0.186441	24.489618	29.925016	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16261724	16261724	15550	1	G	A	A	A	429	33	SPEN	2	2
NUF2	83540	broad.mit.edu	37	1	163317686	163317686	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163317686A>T	uc001gcq.1	+	c.1082A>T	c.(1081-1083)AAG>ATG	p.K361M	NUF2_uc001gcr.1_Missense_Mutation_p.K361M|NUF2_uc009wvc.1_Missense_Mutation_p.K314M	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	361	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)	3	all_hematologic(923;0.101)													0.465753	103.642498	103.717144	34	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163317686	163317686	11152	1	A	T	T	T	39	3	NUF2	3	3
EDEM3	80267	broad.mit.edu	37	1	184681006	184681006	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:184681006C>A	uc010pom.1	-	c.1542G>T	c.(1540-1542)TCG>TCT	p.S514S	EDEM3_uc010pok.1_Silent_p.S514S|EDEM3_uc010pol.1_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	514					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1														0.25	57.497679	62.018349	20	60	KEEP	---	---	---	---	capture		Silent	SNP	184681006	184681006	5100	1	C	A	A	A	288	23	EDEM3	1	1
F13B	2165	broad.mit.edu	37	1	197021763	197021763	+	Splice_Site_SNP	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197021763C>T	uc001gtt.1	-	c.1555_splice	c.e9+1	p.E519_splice		NM_001994	NP_001985			coagulation factor XIII B subunit precursor						blood coagulation	extracellular region				central_nervous_system(1)	1														0.25	32.347525	35.303515	13	39	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	197021763	197021763	5535	1	C	T	T	T	234	18	F13B	5	2
ASPM	259266	broad.mit.edu	37	1	197101454	197101454	+	Silent	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197101454C>G	uc001gtu.2	-	c.2448G>C	c.(2446-2448)CTG>CTC	p.L816L	ASPM_uc001gtv.2_Silent_p.L816L|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	816					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.342105	91.127084	92.801217	26	50	KEEP	---	---	---	---	capture		Silent	SNP	197101454	197101454	1075	1	C	G	G	G	210	17	ASPM	3	3
CRB1	23418	broad.mit.edu	37	1	197446916	197446916	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197446916G>A	uc001gtz.2	+	c.4128G>A	c.(4126-4128)CAG>CAA	p.Q1376Q	CRB1_uc010poz.1_Silent_p.Q1352Q|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Silent_p.Q1264Q|CRB1_uc010ppb.1_Silent_p.Q840Q|CRB1_uc010ppd.1_Silent_p.Q857Q	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1376	Cytoplasmic (Potential).				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.847458	355.474951	369.104774	100	18	KEEP	---	---	---	---	capture		Silent	SNP	197446916	197446916	3987	1	G	A	A	A	451	35	CRB1	2	2
FAM58B	339521	broad.mit.edu	37	1	200182760	200182760	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200182760C>T	uc009wzi.1	+	c.69C>T	c.(67-69)GCC>GCT	p.A23A		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	23											0	Prostate(682;0.19)													0.45	23.667892	23.711874	9	11	KEEP	---	---	---	---	capture		Silent	SNP	200182760	200182760	5813	1	C	T	T	T	288	23	FAM58B	1	1
HHAT	55733	broad.mit.edu	37	1	210847693	210847693	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210847693C>T	uc010psr.1	+	c.1457C>T	c.(1456-1458)GCC>GTC	p.A486V	HHAT_uc009xcx.2_Missense_Mutation_p.A485V|HHAT_uc010psq.1_Missense_Mutation_p.A348V|HHAT_uc001hhz.3_Missense_Mutation_p.A485V|HHAT_uc010pss.1_Missense_Mutation_p.A440V|HHAT_uc009xcy.2_Missense_Mutation_p.A420V|HHAT_uc010pst.1_Missense_Mutation_p.A422V|HHAT_uc010psu.1_Missense_Mutation_p.A420V|HHAT_uc001hia.3_Missense_Mutation_p.A175V	NM_018194	NP_060664	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	485	Helical; (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)										0.412844	128.198578	128.908687	45	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210847693	210847693	7373	1	C	T	T	T	338	26	HHAT	2	2
USH2A	7399	broad.mit.edu	37	1	215802231	215802231	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215802231G>A	uc001hku.1	-	c.15444C>T	c.(15442-15444)CTC>CTT	p.L5148L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	5148	Cytoplasmic (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)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.278912	100.609903	107.075016	41	106	KEEP	---	---	---	---	capture		Silent	SNP	215802231	215802231	17598	1	G	A	A	A	574	45	USH2A	2	2
GUK1	2987	broad.mit.edu	37	1	228333279	228333279	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228333279G>A	uc001hsi.2	+	c.129G>A	c.(127-129)AAG>AAA	p.K43K	GUK1_uc001hsh.2_Silent_p.K22K|GUK1_uc001hsj.2_5'UTR|GUK1_uc010pvv.1_Silent_p.K22K	NM_001159390	NP_001152862	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform a	22	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)												0.318182	40.033307	41.326798	14	30	KEEP	---	---	---	---	capture		Silent	SNP	228333279	228333279	7180	1	G	A	A	A	425	33	GUK1	2	2
SLC35F3	148641	broad.mit.edu	37	1	234454683	234454683	+	Silent	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234454683T>C	uc001hvy.1	+	c.1141T>C	c.(1141-1143)TTA>CTA	p.L381L	SLC35F3_uc001hwa.1_Silent_p.L312L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	312	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)											0.268085	214.330284	225.732521	63	172	KEEP	---	---	---	---	capture		Silent	SNP	234454683	234454683	15087	1	T	C	C	C	829	64	SLC35F3	4	4
OR11L1	391189	broad.mit.edu	37	1	248004695	248004695	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248004695G>A	uc001idn.1	-	c.504C>T	c.(502-504)TTC>TTT	p.F168F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.350254	200.708834	204.609344	69	128	KEEP	---	---	---	---	capture		Silent	SNP	248004695	248004695	11336	1	G	A	A	A	425	33	OR11L1	2	2
OR2T4	127074	broad.mit.edu	37	1	248525769	248525769	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248525769C>T	uc001ieh.1	+	c.887C>T	c.(886-888)TCC>TTC	p.S296F		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	296	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.290323	211.863651	222.855558	81	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248525769	248525769	11433	1	C	T	T	T	390	30	OR2T4	2	2
SYTL1	84958	broad.mit.edu	37	1	27679907	27679907	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27679907G>A	uc001bnw.1	+	c.1477G>A	c.(1477-1479)GAG>AAG	p.E493K	SYTL1_uc001bnv.1_Missense_Mutation_p.E481K|SYTL1_uc009vsu.1_Missense_Mutation_p.E428K|SYTL1_uc009vsv.1_Missense_Mutation_p.E493K	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	493	C2 2.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			ovary(1)	1		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)										0.225806	16.510167	18.649794	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27679907	27679907	16003	1	G	A	A	A	481	37	SYTL1	1	1
S100PBP	64766	broad.mit.edu	37	1	33292039	33292039	+	Silent	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33292039C>G	uc001bvz.2	+	c.339C>G	c.(337-339)CTC>CTG	p.L113L	S100PBP_uc001bwa.1_Silent_p.L113L|S100PBP_uc001bwb.1_Silent_p.L113L|S100PBP_uc001bwc.2_Silent_p.L113L|S100PBP_uc001bwd.2_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	113						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)												0.486842	138.372947	138.384388	37	39	KEEP	---	---	---	---	capture		Silent	SNP	33292039	33292039	14271	1	C	G	G	G	405	32	S100PBP	3	3
CSMD2	114784	broad.mit.edu	37	1	34180202	34180202	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34180202G>T	uc001bxm.1	-	c.3391C>A	c.(3391-3393)CTG>ATG	p.L1131M	CSMD2_uc001bxn.1_Missense_Mutation_p.L1091M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1091	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.214674	164.699846	192.385187	79	289	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34180202	34180202	4086	1	G	T	T	T	425	33	CSMD2	2	2
GJB4	127534	broad.mit.edu	37	1	35227576	35227576	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35227576C>A	uc001bxv.1	+	c.721C>A	c.(721-723)CAG>AAG	p.Q241K	GJB4_uc001bxw.3_Missense_Mutation_p.Q241K	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	241	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)												0.482759	42.550198	42.557575	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35227576	35227576	6678	1	C	A	A	A	273	21	GJB4	2	2
ZMYM6	9204	broad.mit.edu	37	1	35477543	35477543	+	Nonsense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35477543G>C	uc001byh.2	-	c.1010C>G	c.(1009-1011)TCA>TGA	p.S337*	ZMYM6_uc001byf.1_Nonsense_Mutation_p.S337*|ZMYM6_uc010oht.1_Nonsense_Mutation_p.S240*|ZMYM6_uc009vup.2_Nonsense_Mutation_p.S143*|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.S337*|ZMYM6_uc009vur.1_Nonsense_Mutation_p.S143*	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	337					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)												0.191176	39.034483	45.093914	13	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35477543	35477543	18295	1	G	C	C	C	585	45	ZMYM6	5	3
MACF1	23499	broad.mit.edu	37	1	39844179	39844179	+	Silent	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39844179A>G	uc010oiu.1	+	c.8580A>G	c.(8578-8580)GGA>GGG	p.G2860G	MACF1_uc010ois.1_Silent_p.G2358G|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2358					cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.357143	103.931114	105.439231	30	54	KEEP	---	---	---	---	capture		Silent	SNP	39844179	39844179	9521	1	A	G	G	G	145	12	MACF1	4	4
ZCCHC11	23318	broad.mit.edu	37	1	52901105	52901105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52901105G>A	uc001cty.2	-	c.4195C>T	c.(4195-4197)CAA>TAA	p.Q1399*	ZCCHC11_uc001ctx.2_Nonsense_Mutation_p.Q1398*|ZCCHC11_uc001ctz.2_Nonsense_Mutation_p.Q1394*|ZCCHC11_uc001cua.1_Nonsense_Mutation_p.Q316*	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1398	Gln-rich.				miRNA catabolic process|pre-microRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.54717	89.47465	89.57668	29	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52901105	52901105	18168	1	G	A	A	A	585	45	ZCCHC11	5	2
PODN	127435	broad.mit.edu	37	1	53535678	53535678	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53535678G>T	uc001cuv.2	+	c.295G>T	c.(295-297)GTG>TTG	p.V99L	PODN_uc001cuw.2_Missense_Mutation_p.V80L|PODN_uc010onr.1_Missense_Mutation_p.V80L|PODN_uc010ons.1_Missense_Mutation_p.V99L	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	51					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2														0.416667	27.546309	27.691522	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53535678	53535678	12606	1	G	T	T	T	572	44	PODN	2	2
GBP6	163351	broad.mit.edu	37	1	89834209	89834209	+	Missense_Mutation	SNP	G	C	C	rs71584945		TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89834209G>C	uc001dnf.2	+	c.99G>C	c.(97-99)AAG>AAC	p.K33N	GBP6_uc010ost.1_Intron	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	33							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)										0.394737	155.269877	156.368924	45	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89834209	89834209	6544	1	G	C	C	C	425	33	GBP6	3	3
HFM1	164045	broad.mit.edu	37	1	91727809	91727809	+	Silent	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91727809T>C	uc001doa.3	-	c.4227A>G	c.(4225-4227)GAA>GAG	p.E1409E	HFM1_uc009wdb.2_Non-coding_Transcript|HFM1_uc010osu.1_Silent_p.E1088E|HFM1_uc001dob.3_Silent_p.E597E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1409							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)										0.518519	49.748669	49.756627	14	13	KEEP	---	---	---	---	capture		Silent	SNP	91727809	91727809	7366	1	T	C	C	C	725	56	HFM1	4	4
HFM1	164045	broad.mit.edu	37	1	91841230	91841230	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91841230C>T	uc001doa.3	-	c.1450G>A	c.(1450-1452)GAG>AAG	p.E484K	HFM1_uc010osu.1_Missense_Mutation_p.E163K|HFM1_uc010osv.1_Missense_Mutation_p.E168K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	484							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)										0.196629	70.806639	86.08908	35	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91841230	91841230	7366	1	C	T	T	T	377	29	HFM1	2	2
ISM1	140862	broad.mit.edu	37	20	13280019	13280019	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13280019C>A	uc010gce.1	+	c.1308C>A	c.(1306-1308)GCC>GCA	p.A436A	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	436	AMOP.					extracellular region					0														0.653061	100.808917	101.822314	32	17	KEEP	---	---	---	---	capture		Silent	SNP	13280019	13280019	8164	20	C	A	A	A	275	22	ISM1	2	2
NCOA6	23054	broad.mit.edu	37	20	33330706	33330706	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33330706C>T	uc002xav.2	-	c.3354G>A	c.(3352-3354)CCG>CCA	p.P1118P	NCOA6_uc002xaw.2_Silent_p.P1118P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1118	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.375	131.877842	133.746088	51	85	KEEP	---	---	---	---	capture		Silent	SNP	33330706	33330706	10632	20	C	T	T	T	340	27	NCOA6	1	1
UQCC	55245	broad.mit.edu	37	20	33891776	33891776	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33891776T>G	uc002xcd.2	-	c.862A>C	c.(862-864)AAG>CAG	p.K288Q	UQCC_uc010zuy.1_Missense_Mutation_p.K189Q|UQCC_uc010zuz.1_Missense_Mutation_p.K133Q|UQCC_uc010zva.1_Missense_Mutation_p.K151Q|UQCC_uc002xce.2_Missense_Mutation_p.K261Q|UQCC_uc002xcg.2_Missense_Mutation_p.K154Q|UQCC_uc010gfb.2_Missense_Mutation_p.K262Q|UQCC_uc010zvb.1_Missense_Mutation_p.K220Q|UQCC_uc002xcf.2_Missense_Mutation_p.K176Q|UQCC_uc002xch.2_Non-coding_Transcript|UQCC_uc002xcc.2_Missense_Mutation_p.K101Q	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	288						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)									OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.409756	298.463586	299.921233	84	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33891776	33891776	17576	20	T	G	G	G	806	62	UQCC	4	4
PLCG1	5335	broad.mit.edu	37	20	39794177	39794177	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39794177G>A	uc002xjo.1	+	c.1597G>A	c.(1597-1599)GAG>AAG	p.E533K	PLCG1_uc002xjp.1_Missense_Mutation_p.E533K|PLCG1_uc010zwe.1_Missense_Mutation_p.E159K|PLCG1_uc010ggf.2_5'Flank	NM_002660	NP_002651	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform a	533					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(3)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.00878)								429				0.28	37.428131	39.604258	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39794177	39794177	12461	20	G	A	A	A	533	41	PLCG1	2	2
ZNF335	63925	broad.mit.edu	37	20	44578472	44578472	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44578472C>T	uc002xqw.2	-	c.3636G>A	c.(3634-3636)CAG>CAA	p.Q1212Q	ZNF335_uc002xqv.2_Silent_p.Q324Q|ZNF335_uc010zxk.1_Silent_p.Q1057Q	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1212	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.362319	65.947094	67.10155	25	44	KEEP	---	---	---	---	capture		Silent	SNP	44578472	44578472	18444	20	C	T	T	T	415	32	ZNF335	2	2
NCOA3	8202	broad.mit.edu	37	20	46254147	46254147	+	Silent	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:46254147T>C	uc002xtk.2	+	c.279T>C	c.(277-279)GAT>GAC	p.D93D	NCOA3_uc010ght.1_Silent_p.D93D|NCOA3_uc002xtl.2_Silent_p.D93D|NCOA3_uc002xtm.2_Silent_p.D93D|NCOA3_uc002xtn.2_Silent_p.D93D|NCOA3_uc010zyc.1_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	93					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding|transcription regulator activity			ovary(3)|lung(1)|skin(1)	5										361				0.242424	67.86155	73.842737	24	75	KEEP	---	---	---	---	capture		Silent	SNP	46254147	46254147	10629	20	T	C	C	C	660	51	NCOA3	4	4
ZNF831	128611	broad.mit.edu	37	20	57769595	57769595	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57769595T>G	uc002yan.2	+	c.3521T>G	c.(3520-3522)TTT>TGT	p.F1174C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1174						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.269663	69.388521	73.631162	24	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57769595	57769595	18784	20	T	G	G	G	832	64	ZNF831	4	4
COL20A1	57642	broad.mit.edu	37	20	61929352	61929352	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61929352T>A	uc011aau.1	+	c.173T>A	c.(172-174)GTG>GAG	p.V58E		NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	58	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity				0	all_cancers(38;1.39e-10)													0.25	18.818589	20.404545	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61929352	61929352	3817	20	T	A	A	A	767	59	COL20A1	3	3
C20orf195	79025	broad.mit.edu	37	20	62187844	62187844	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62187844C>A	uc002yfj.2	+	c.828C>A	c.(826-828)AAC>AAA	p.N276K	C20orf195_uc002yfk.2_Missense_Mutation_p.N276K	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	276											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)											0.24375	95.14793	104.72283	39	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62187844	62187844	2178	20	C	A	A	A	233	18	C20orf195	2	2
SON	6651	broad.mit.edu	37	21	34918600	34918600	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34918600C>T	uc002yse.1	+	c.159C>T	c.(157-159)GCC>GCT	p.A53A	SON_uc002ysb.1_Silent_p.A53A|SON_uc002ysc.2_Silent_p.A53A|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Silent_p.A53A	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	53					anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.606742	175.962557	176.84873	54	35	KEEP	---	---	---	---	capture		Silent	SNP	34918600	34918600	15426	21	C	T	T	T	262	21	SON	2	2
DSCAM	1826	broad.mit.edu	37	21	42080523	42080523	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42080523C>A	uc002yyq.1	-	c.218G>T	c.(217-219)CGC>CTC	p.R73L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	73	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.689076	273.887679	277.674865	82	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42080523	42080523	4952	21	C	A	A	A	351	27	DSCAM	1	1
COL6A2	1292	broad.mit.edu	37	21	47545874	47545874	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47545874C>G	uc002zia.1	+	c.2145C>G	c.(2143-2145)ATC>ATG	p.I715M	COL6A2_uc002zhy.1_Missense_Mutation_p.I715M|COL6A2_uc002zhz.1_Missense_Mutation_p.I715M|COL6A2_uc002zib.1_Missense_Mutation_p.I121M|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	715	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)										0.558824	74.830066	74.93254	19	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47545874	47545874	3838	21	C	G	G	G	369	29	COL6A2	3	3
CRYBB1	1414	broad.mit.edu	37	22	26995496	26995496	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26995496G>A	uc003acy.1	-	c.717C>T	c.(715-717)CTC>CTT	p.L239L		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	239	C-terminal arm.				visual perception		structural constituent of eye lens			ovary(1)	1														0.519481	118.345488	118.375029	40	37	KEEP	---	---	---	---	capture		Silent	SNP	26995496	26995496	4049	22	G	A	A	A	470	37	CRYBB1	1	1
DEPDC5	9681	broad.mit.edu	37	22	32302347	32302347	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32302347G>T	uc011alu.1	+	c.4676G>T	c.(4675-4677)CGC>CTC	p.R1559L	DEPDC5_uc011als.1_Missense_Mutation_p.R1459L|DEPDC5_uc003als.2_Missense_Mutation_p.R1528L|DEPDC5_uc011alv.1_Non-coding_Transcript|DEPDC5_uc003alt.2_Missense_Mutation_p.R1550L|DEPDC5_uc003alu.2_Missense_Mutation_p.R977L|DEPDC5_uc003alv.2_Non-coding_Transcript|DEPDC5_uc003alw.2_Missense_Mutation_p.R826L|DEPDC5_uc011alx.1_Missense_Mutation_p.R376L|DEPDC5_uc010gwk.2_Silent_p.A563A|DEPDC5_uc011aly.1_Missense_Mutation_p.R376L	NM_001136029	NP_001129501	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 3	1528					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8														0.591241	271.110938	272.093718	81	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32302347	32302347	4621	22	G	T	T	T	494	38	DEPDC5	1	1
SYN3	8224	broad.mit.edu	37	22	33265054	33265054	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:33265054C>A	uc003amx.2	-	c.520G>T	c.(520-522)GGG>TGG	p.G174W	SYN3_uc003amy.2_Missense_Mutation_p.G174W|SYN3_uc003amz.2_Missense_Mutation_p.G173W	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	174	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity				0										35				0.46875	43.719358	43.746794	15	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33265054	33265054	15963	22	C	A	A	A	286	22	SYN3	2	2
SOX10	6663	broad.mit.edu	37	22	38379591	38379591	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38379591C>A	uc003aun.1	-	c.201G>T	c.(199-201)AAG>AAT	p.K67N	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.K67N|SOX10_uc010gxj.2_Missense_Mutation_p.K67N	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	67						cytoplasm|nucleus	identical protein binding|RNA polymerase II transcription factor activity|transcription coactivator activity				0	Melanoma(58;0.045)					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)				67				0.266667	10.092913	10.83086	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38379591	38379591	15441	22	C	A	A	A	259	20	SOX10	2	2
PIM3	415116	broad.mit.edu	37	22	50356707	50356707	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50356707G>A	uc003bjb.2	+	c.913G>A	c.(913-915)GAC>AAC	p.D305N	PIM3_uc011arj.1_Missense_Mutation_p.D68N	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	serine/threonine protein kinase pim-3	305					cell cycle|negative regulation of apoptosis|protein phosphorylation|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)						29				0.470588	22.597479	22.610341	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50356707	50356707	12353	22	G	A	A	A	585	45	PIM3	2	2
SLC9A2	6549	broad.mit.edu	37	2	103317603	103317603	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103317603C>G	uc002tca.2	+	c.1661C>G	c.(1660-1662)TCT>TGT	p.S554C		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	554	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.28	66.141721	69.406071	21	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103317603	103317603	15209	2	C	G	G	G	416	32	SLC9A2	3	3
EDAR	10913	broad.mit.edu	37	2	109547432	109547432	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:109547432G>T	uc010fjn.2	-	c.39C>A	c.(37-39)CTC>CTA	p.L13L	EDAR_uc002teq.3_Silent_p.L13L|EDAR_uc010yws.1_Silent_p.L13L	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	13					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity				0														0.110465	14.702369	40.526577	19	153	KEEP	---	---	---	---	capture		Silent	SNP	109547432	109547432	5092	2	G	T	T	T	522	41	EDAR	2	2
PCDP1	200373	broad.mit.edu	37	2	120387532	120387532	+	Splice_Site_SNP	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120387532G>A	uc002tmb.2	+	c.873_splice	c.e18+1	p.Q291_splice	PCDP1_uc010yyq.1_Splice_Site_SNP_p.Q421_splice	NM_001029996	NP_001025167			primary ciliary dyskinesia protein 1							cilium	calmodulin binding				0	Colorectal(110;0.196)													0.222222	54.842096	62.509122	24	84	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	120387532	120387532	11992	2	G	A	A	A	572	44	PCDP1	5	2
LCT	3938	broad.mit.edu	37	2	136594656	136594656	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136594656G>A	uc002tuu.1	-	c.84C>T	c.(82-84)TTC>TTT	p.F28F		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	28	Extracellular (Potential).				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.166667	13.966293	19.026783	8	40	KEEP	---	---	---	---	capture		Silent	SNP	136594656	136594656	9017	2	G	A	A	A	581	45	LCT	2	2
LRP1B	53353	broad.mit.edu	37	2	141110564	141110564	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141110564C>T	uc002tvj.1	-	c.11608G>A	c.(11608-11610)GAC>AAC	p.D3870N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3870	Extracellular (Potential).|EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.142077	37.316024	59.934328	26	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141110564	141110564	9328	2	C	T	T	T	377	29	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141128318	141128318	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141128318C>A	uc002tvj.1	-	c.10969G>T	c.(10969-10971)GAC>TAC	p.D3657Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3657	Extracellular (Potential).|LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.160428	111.340911	152.411858	60	314	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141128318	141128318	9328	2	C	A	A	A	377	29	LRP1B	2	2
NBAS	51594	broad.mit.edu	37	2	15519895	15519895	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15519895T>C	uc002rcc.1	-	c.3421A>G	c.(3421-3423)ATG>GTG	p.M1141V	NBAS_uc010exl.1_Missense_Mutation_p.M213V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1141										ovary(2)|liver(1)	3														0.50211	419.857094	419.857773	119	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15519895	15519895	10582	2	T	C	C	C	650	50	NBAS	4	4
TANC1	85461	broad.mit.edu	37	2	160031569	160031569	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160031569G>T	uc002uag.2	+	c.1609G>T	c.(1609-1611)GCC>TCC	p.A537S	TANC1_uc010fol.1_Missense_Mutation_p.A431S|TANC1_uc010zcm.1_Missense_Mutation_p.A529S|TANC1_uc010fom.1_Missense_Mutation_p.A343S|TANC1_uc002uai.1_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	537						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3														0.56044	469.467591	470.333319	153	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160031569	160031569	16065	2	G	T	T	T	494	38	TANC1	1	1
CSRNP3	80034	broad.mit.edu	37	2	166451720	166451720	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166451720A>C	uc002udf.2	+	c.145A>C	c.(145-147)ACC>CCC	p.T49P	CSRNP3_uc002udg.2_Missense_Mutation_p.T49P	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	49	Ser-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)	4														0.492754	246.703197	246.709339	68	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166451720	166451720	4106	2	A	C	C	C	182	14	CSRNP3	4	4
SCN9A	6335	broad.mit.edu	37	2	167141098	167141098	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167141098C>T	uc010fpl.2	-	c.1839G>A	c.(1837-1839)CCG>CCA	p.P613P	SCN9A_uc002udr.1_Silent_p.P484P|SCN9A_uc002uds.1_Silent_p.P484P|SCN9A_uc002udt.1_Silent_p.P484P	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	613						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.428571	94.639616	94.950947	30	40	KEEP	---	---	---	---	capture		Silent	SNP	167141098	167141098	14407	2	C	T	T	T	288	23	SCN9A	1	1
XIRP2	129446	broad.mit.edu	37	2	168105626	168105626	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168105626G>A	uc002udx.2	+	c.7724G>A	c.(7723-7725)AGC>AAC	p.S2575N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2400N|XIRP2_uc010fpq.2_Missense_Mutation_p.S2353N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2400					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.16	51.975396	71.251814	28	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168105626	168105626	18011	2	G	A	A	A	442	34	XIRP2	2	2
LASS6	253782	broad.mit.edu	37	2	169547564	169547564	+	Silent	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169547564G>C	uc002uec.1	+	c.486G>C	c.(484-486)ACG>ACC	p.T162T	LASS6_uc002ueb.1_Silent_p.T162T	NM_203463	NP_982288	Q6ZMG9	LASS6_HUMAN	longevity assurance homolog 6	162	Cytoplasmic (Potential).|TLC.				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0														0.122549	49.332234	77.777119	25	179	KEEP	---	---	---	---	capture		Silent	SNP	169547564	169547564	8966	2	G	C	C	C	470	37	LASS6	3	3
LRP2	4036	broad.mit.edu	37	2	170151164	170151164	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170151164G>C	uc002ues.2	-	c.484C>G	c.(484-486)CAG>GAG	p.Q162E	LRP2_uc010zdf.1_Missense_Mutation_p.Q162E	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	162	LDL-receptor class A 4.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.229358	77.414452	84.737761	25	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170151164	170151164	9329	2	G	C	C	C	585	45	LRP2	3	3
C2orf77	129881	broad.mit.edu	37	2	170505760	170505760	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170505760C>T	uc002ufe.2	-	c.1249G>A	c.(1249-1251)GAA>AAA	p.E417K		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	hypothetical protein LOC129881	417											0														0.145833	11.892363	17.682237	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170505760	170505760	2284	2	C	T	T	T	377	29	C2orf77	2	2
COL5A2	1290	broad.mit.edu	37	2	189925458	189925458	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189925458G>C	uc002uqk.2	-	c.2083C>G	c.(2083-2085)CAA>GAA	p.Q695E	COL5A2_uc010frx.2_Missense_Mutation_p.Q271E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	695					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.265306	39.941134	42.390153	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189925458	189925458	3835	2	G	C	C	C	585	45	COL5A2	3	3
MYO1B	4430	broad.mit.edu	37	2	192275861	192275861	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:192275861G>C	uc010fsg.2	+	c.2836G>C	c.(2836-2838)GAA>CAA	p.E946Q	MYO1B_uc002usq.2_Missense_Mutation_p.E888Q|MYO1B_uc002usr.2_Missense_Mutation_p.E946Q|MYO1B_uc002usu.2_Missense_Mutation_p.E191Q|MYO1B_uc002usv.2_Missense_Mutation_p.E62Q	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	946						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)											0.15	28.944491	38.340001	12	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192275861	192275861	10464	2	G	C	C	C	585	45	MYO1B	3	3
APOB	338	broad.mit.edu	37	2	21235078	21235078	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21235078G>T	uc002red.2	-	c.4662C>A	c.(4660-4662)ATC>ATA	p.I1554I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1554					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.130841	19.06923	33.255796	14	93	KEEP	---	---	---	---	capture		Silent	SNP	21235078	21235078	796	2	G	T	T	T	577	45	APOB	2	2
CCDC108	255101	broad.mit.edu	37	2	219892544	219892544	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219892544G>T	uc002vjl.1	-	c.2039C>A	c.(2038-2040)ACC>AAC	p.T680N	CCDC108_uc010fwa.1_Missense_Mutation_p.T123N|CCDC108_uc010zkp.1_Missense_Mutation_p.T669N|CCDC108_uc010zkq.1_Missense_Mutation_p.T615N	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	680						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.24359	47.679067	52.360145	19	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219892544	219892544	2863	2	G	T	T	T	572	44	CCDC108	2	2
TRIP12	9320	broad.mit.edu	37	2	230675910	230675910	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230675910G>A	uc002vpx.1	-	c.1997C>T	c.(1996-1998)TCA>TTA	p.S666L	TRIP12_uc002vpw.1_Missense_Mutation_p.S618L|TRIP12_uc002vpy.1_Missense_Mutation_p.S321L|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.S624L	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	618					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|breast(1)|central_nervous_system(1)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)										0.239437	41.935111	46.339303	17	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230675910	230675910	17106	2	G	A	A	A	585	45	TRIP12	2	2
NEU4	129807	broad.mit.edu	37	2	242756197	242756197	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242756197G>A	uc002wcn.1	+	c.346G>A	c.(346-348)GCG>ACG	p.A116T	NEU4_uc002wcl.2_Non-coding_Transcript|NEU4_uc010fzr.2_Missense_Mutation_p.A104T|NEU4_uc002wcm.2_Missense_Mutation_p.A104T|NEU4_uc002wco.1_Missense_Mutation_p.A104T|NEU4_uc002wcp.1_Missense_Mutation_p.A116T	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	104						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)										0.5	43.004743	43.004743	16	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242756197	242756197	10743	2	G	A	A	A	494	38	NEU4	1	1
CRIM1	51232	broad.mit.edu	37	2	36706813	36706813	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:36706813G>T	uc002rpd.2	+	c.1348G>T	c.(1348-1350)GGG>TGG	p.G450W		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	450	VWFC 2.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)	2		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)												0.192661	42.205075	51.826185	21	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36706813	36706813	4012	2	G	T	T	T	611	47	CRIM1	2	2
GALM	130589	broad.mit.edu	37	2	38958889	38958889	+	Silent	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:38958889T>A	uc002rqy.2	+	c.789T>A	c.(787-789)GCT>GCA	p.A263A		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	263					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)												0.186275	40.560433	49.971644	19	83	KEEP	---	---	---	---	capture		Silent	SNP	38958889	38958889	6469	2	T	A	A	A	704	55	GALM	3	3
CLEC4F	165530	broad.mit.edu	37	2	71043249	71043249	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71043249G>A	uc002shf.2	-	c.1264C>T	c.(1264-1266)CAG>TAG	p.Q422*	CLEC4F_uc010yqv.1_Nonsense_Mutation_p.Q422*	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	422	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						Colon(107;10 2157 6841 26035)								0.493671	118.506555	118.509552	39	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71043249	71043249	3654	2	G	A	A	A	611	47	CLEC4F	5	2
LOXL3	84695	broad.mit.edu	37	2	74763216	74763216	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74763216C>T	uc002smp.1	-	c.1155G>A	c.(1153-1155)AAG>AAA	p.K385K	LOXL3_uc002smo.1_Silent_p.K24K|LOXL3_uc010ffm.1_Silent_p.K385K|LOXL3_uc002smq.1_Silent_p.K240K|LOXL3_uc010ffn.1_Silent_p.K240K	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	385	SRCR 3.				oxidation-reduction process	extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0														0.530769	220.172974	220.279338	69	61	KEEP	---	---	---	---	capture		Silent	SNP	74763216	74763216	9274	2	C	T	T	T	259	20	LOXL3	2	2
CD47	961	broad.mit.edu	37	3	107799048	107799048	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:107799048C>G	uc003dwt.1	-	c.190G>C	c.(190-192)GAT>CAT	p.D64H	CD47_uc003dwu.1_Missense_Mutation_p.D64H|CD47_uc003dwv.1_Missense_Mutation_p.D64H|CD47_uc003dww.1_Missense_Mutation_p.D64H	NM_001777	NP_001768	Q08722	CD47_HUMAN	CD47 antigen isoform 1 precursor	64	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)											0.684615	345.024135	348.96527	89	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107799048	107799048	3147	3	C	G	G	G	416	32	CD47	3	3
COL6A6	131873	broad.mit.edu	37	3	130290238	130290238	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130290238G>T	uc010htl.2	+	c.2977_splice	c.e6+1	p.D993_splice		NM_001102608	NP_001096078			collagen type VI alpha 6 precursor						axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.636364	71.682785	72.222161	21	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	130290238	130290238	3841	3	G	T	T	T	572	44	COL6A6	5	2
MME	4311	broad.mit.edu	37	3	154861315	154861315	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154861315G>A	uc010hvr.1	+	c.1272G>A	c.(1270-1272)GGG>GGA	p.G424G	MME_uc003fab.1_Silent_p.G424G|MME_uc003fac.1_Silent_p.G424G|MME_uc003fad.1_Silent_p.G424G|MME_uc003fae.1_Silent_p.G424G	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	424	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)									0.21134	92.679368	107.622192	41	153	KEEP	---	---	---	---	capture		Silent	SNP	154861315	154861315	10035	3	G	A	A	A	522	41	MME	2	2
SLITRK3	22865	broad.mit.edu	37	3	164906989	164906989	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164906989C>A	uc003fej.3	-	c.1630G>T	c.(1630-1632)GTG>TTG	p.V544L	SLITRK3_uc003fek.2_Missense_Mutation_p.V544L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	544	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(6)|pancreas(1)	7														0.652174	154.487647	155.895741	45	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164906989	164906989	15242	3	C	A	A	A	247	19	SLITRK3	1	1
CLDN1	9076	broad.mit.edu	37	3	190027981	190027981	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:190027981G>A	uc003fsh.2	-	c.450C>T	c.(448-450)GAC>GAT	p.D150D		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	150	Extracellular (Potential).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)										0.622642	109.187841	109.88796	33	20	KEEP	---	---	---	---	capture		Silent	SNP	190027981	190027981	3607	3	G	A	A	A	568	44	CLDN1	2	2
TNK2	10188	broad.mit.edu	37	3	195610174	195610174	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195610174C>A	uc003fvt.1	-	c.652G>T	c.(652-654)GTG>TTG	p.V218L	TNK2_uc003fvs.1_Missense_Mutation_p.V187L|TNK2_uc003fvu.1_Missense_Mutation_p.V155L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Missense_Mutation_p.V169L	NM_001010938	NP_001010938	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 2	155	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)					288				0.781818	137.74766	141.769849	43	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	195610174	195610174	16859	3	C	A	A	A	221	17	TNK2	2	2
OSBPL10	114884	broad.mit.edu	37	3	31871646	31871646	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:31871646C>A	uc003cev.2	-	c.615G>T	c.(613-615)CAG>CAT	p.Q205H	OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	205					lipid transport		lipid binding				0				STAD - Stomach adenocarcinoma(1;0.00406)										0.622642	100.081326	100.779405	33	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31871646	31871646	11686	3	C	A	A	A	415	32	OSBPL10	2	2
MAP4	4134	broad.mit.edu	37	3	47957470	47957470	+	Nonsense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47957470G>C	uc003csb.2	-	c.1847C>G	c.(1846-1848)TCA>TGA	p.S616*	MAP4_uc003csc.3_Nonsense_Mutation_p.S616*|MAP4_uc011bbf.1_Nonsense_Mutation_p.S593*|MAP4_uc003csf.3_Nonsense_Mutation_p.S633*	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	616					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)										0.689655	452.048353	457.619769	120	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47957470	47957470	9641	3	G	C	C	C	585	45	MAP4	5	3
CELSR3	1951	broad.mit.edu	37	3	48697690	48697690	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48697690A>G	uc003cuf.1	-	c.2588T>C	c.(2587-2589)ATC>ACC	p.I863T	CELSR3_uc003cul.2_Missense_Mutation_p.I793T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	793	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.144928	20.907441	29.273404	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48697690	48697690	3356	3	A	G	G	G	156	12	CELSR3	4	4
GRM7	2917	broad.mit.edu	37	3	7620469	7620469	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:7620469C>G	uc003bql.2	+	c.1876C>G	c.(1876-1878)CGG>GGG	p.R626G	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R626G|GRM7_uc003bqm.2_Missense_Mutation_p.R626G|GRM7_uc003bqn.1_Missense_Mutation_p.R209G|GRM7_uc010hch.1_Missense_Mutation_p.R137G	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	626	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.577922	332.134328	332.962704	89	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7620469	7620469	7081	3	C	G	G	G	347	27	GRM7	3	3
OR5H15	403274	broad.mit.edu	37	3	97887574	97887574	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97887574G>T	uc011bgu.1	+	c.31G>T	c.(31-33)GAG>TAG	p.E11*		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.649289	427.407075	431.546022	137	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97887574	97887574	11571	3	G	T	T	T	429	33	OR5H15	5	2
C4orf3	401152	broad.mit.edu	37	4	120221638	120221638	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:120221638C>T	uc003icv.3	-	c.53G>A	c.(52-54)CGA>CAA	p.R18Q		NM_001001701	NP_001001701	Q8WVX3	CD003_HUMAN	hypothetical protein LOC401152	18						integral to membrane					0														0.573171	144.22722	144.609024	47	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120221638	120221638	2355	4	C	T	T	T	403	31	C4orf3	1	1
USP38	84640	broad.mit.edu	37	4	144118998	144118998	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:144118998C>T	uc003ijb.2	+	c.971C>T	c.(970-972)CCT>CTT	p.P324L	USP38_uc003ija.3_Missense_Mutation_p.P324L|USP38_uc003ijc.2_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	324					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|pancreas(1)	3	all_hematologic(180;0.158)													0.589286	232.670058	233.449492	66	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144118998	144118998	17633	4	C	T	T	T	312	24	USP38	2	2
MARCH1	55016	broad.mit.edu	37	4	164449921	164449921	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164449921G>T	uc003iqs.1	-	c.849C>A	c.(847-849)CCC>CCA	p.P283P	MARCH1_uc003iqr.1_Silent_p.P266P	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	283						cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.583333	102.321966	102.683675	35	25	KEEP	---	---	---	---	capture		Silent	SNP	164449921	164449921	9681	4	G	T	T	T	548	43	MARCH1	2	2
SLIT2	9353	broad.mit.edu	37	4	20568941	20568941	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20568941A>T	uc003gpr.1	+	c.2782A>T	c.(2782-2784)AAA>TAA	p.K928*	SLIT2_uc003gps.1_Nonsense_Mutation_p.K920*	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	928	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.341216	275.78228	282.378601	101	195	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20568941	20568941	15238	4	A	T	T	T	169	13	SLIT2	5	3
GABRA4	2557	broad.mit.edu	37	4	46981053	46981053	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46981053C>T	uc003gxg.2	-	c.268G>A	c.(268-270)GAA>AAA	p.E90K		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	90	Extracellular (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)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.354839	31.815265	32.391342	11	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46981053	46981053	6414	4	C	T	T	T	377	29	GABRA4	2	2
SH3TC1	54436	broad.mit.edu	37	4	8220037	8220037	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8220037C>T	uc003gkv.3	+	c.879C>T	c.(877-879)GCC>GCT	p.A293A	SH3TC1_uc003gkw.3_Silent_p.A217A|SH3TC1_uc003gkx.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	293							binding			large_intestine(2)|pancreas(1)	3						NSCLC(145;2298 2623 35616 37297)								0.145833	11.490254	17.282349	7	41	KEEP	---	---	---	---	capture		Silent	SNP	8220037	8220037	14753	4	C	T	T	T	262	21	SH3TC1	2	2
IDUA	3425	broad.mit.edu	37	4	997367	997367	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:997367C>T	uc003gby.2	+	c.1681C>T	c.(1681-1683)CAA>TAA	p.Q561*	IDUA_uc003gbz.2_Non-coding_Transcript|IDUA_uc003gca.2_Nonsense_Mutation_p.Q583*	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	561					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)									0.25641	27.330797	29.429542	10	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	997367	997367	7804	4	C	T	T	T	273	21	IDUA	5	2
PJA2	9867	broad.mit.edu	37	5	108704449	108704449	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:108704449T>A	uc003kos.3	-	c.1284_splice	c.e5-1	p.S428_splice		NM_014819	NP_055634			praja 2, RING-H2 motif containing							cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|zinc ion binding			ovary(1)	1		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)										0.15942	22.679677	30.30536	11	58	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	108704449	108704449	12386	5	T	A	A	A	715	55	PJA2	5	3
FBXL21	26223	broad.mit.edu	37	5	135272539	135272539	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135272539G>A	uc010jec.1	+	c.256G>A	c.(256-258)GAA>AAA	p.E86K	FBXL21_uc003lbc.2_Non-coding_Transcript	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	86					rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.278351	70.179116	74.468813	27	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135272539	135272539	5955	5	G	A	A	A	585	45	FBXL21	2	2
PPARGC1B	133522	broad.mit.edu	37	5	149216087	149216087	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149216087G>T	uc003lrc.2	+	c.2069G>T	c.(2068-2070)GGA>GTA	p.G690V	PPARGC1B_uc003lrb.1_Missense_Mutation_p.G690V|PPARGC1B_uc003lrd.2_Missense_Mutation_p.G651V|PPARGC1B_uc003lrf.2_Missense_Mutation_p.G669V|PPARGC1B_uc003lre.1_Missense_Mutation_p.G669V	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	690					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription mediator activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)											0.449438	111.785623	111.983934	40	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149216087	149216087	12731	5	G	T	T	T	533	41	PPARGC1B	2	2
GLRA1	2741	broad.mit.edu	37	5	151266343	151266343	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151266343G>A	uc003lut.2	-	c.191C>T	c.(190-192)CCA>CTA	p.P64L	GLRA1_uc003lur.2_Missense_Mutation_p.P64L|GLRA1_uc003lus.2_5'UTR	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	64	Extracellular (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.183673	15.745061	20.349309	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151266343	151266343	6722	5	G	A	A	A	611	47	GLRA1	2	2
NMUR2	56923	broad.mit.edu	37	5	151784223	151784223	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151784223G>C	uc003luv.2	-	c.452C>G	c.(451-453)CCG>CGG	p.P151R		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	151	Cytoplasmic (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.419355	126.920705	127.44541	39	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151784223	151784223	10910	5	G	C	C	C	507	39	NMUR2	3	3
FBXL7	23194	broad.mit.edu	37	5	15928526	15928526	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928526G>T	uc003jfn.1	+	c.655G>T	c.(655-657)GTC>TTC	p.V219F		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	219	LRR 2.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.329787	80.482982	82.90212	31	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15928526	15928526	5961	5	G	T	T	T	468	36	FBXL7	2	2
ATP10B	23120	broad.mit.edu	37	5	160039758	160039758	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160039758G>T	uc003lym.1	-	c.2828C>A	c.(2827-2829)ACA>AAA	p.T943K	ATP10B_uc010jit.1_Missense_Mutation_p.T260K|ATP10B_uc003lyn.2_Missense_Mutation_p.T501K	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	943	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(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.511628	70.649935	70.654953	22	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160039758	160039758	1136	5	G	T	T	T	624	48	ATP10B	2	2
DBN1	1627	broad.mit.edu	37	5	176885526	176885526	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176885526C>A	uc003mgx.2	-	c.1315G>T	c.(1315-1317)GAG>TAG	p.E439*	DBN1_uc011dga.1_Nonsense_Mutation_p.E169*|DBN1_uc003mgy.2_Nonsense_Mutation_p.E437*|DBN1_uc010jkn.1_Nonsense_Mutation_p.E387*|DBN1_uc003mgz.1_Nonsense_Mutation_p.E420*	NM_080881	NP_543157	Q16643	DREB_HUMAN	drebrin 1 isoform b	437					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)	3	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)							168				0.280702	34.670822	37.139007	16	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	176885526	176885526	4423	5	C	A	A	A	390	30	DBN1	5	2
DBN1	1627	broad.mit.edu	37	5	176894024	176894024	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176894024C>T	uc003mgx.2	-	c.601G>A	c.(601-603)GCC>ACC	p.A201T	DBN1_uc003mgy.2_Missense_Mutation_p.A199T|DBN1_uc010jkn.1_Missense_Mutation_p.A149T|DBN1_uc003mgz.1_Missense_Mutation_p.A136T	NM_080881	NP_543157	Q16643	DREB_HUMAN	drebrin 1 isoform b	199					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)	3	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)							168				0.201681	46.132097	55.978786	24	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176894024	176894024	4423	5	C	T	T	T	338	26	DBN1	2	2
PROP1	5626	broad.mit.edu	37	5	177421277	177421277	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:177421277G>A	uc003mif.1	-	c.172C>T	c.(172-174)CCG>TCG	p.P58S		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	58					central nervous system development|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.1875	12.529972	15.457387	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177421277	177421277	13000	5	G	A	A	A	559	43	PROP1	2	2
ADAMTS2	9509	broad.mit.edu	37	5	178555091	178555091	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178555091G>A	uc003mjw.2	-	c.2486C>T	c.(2485-2487)TCA>TTA	p.S829L		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	829	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.457143	95.190131	95.302386	32	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178555091	178555091	266	5	G	A	A	A	585	45	ADAMTS2	2	2
RNF130	55819	broad.mit.edu	37	5	179467544	179467544	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179467544C>G	uc003mll.1	-	c.351G>C	c.(349-351)GAG>GAC	p.E117D	RNF130_uc003mlm.1_Missense_Mutation_p.E117D	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	ring finger protein 130 precursor	117	Extracellular (Potential).|PA.				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			lung(2)|ovary(1)	3	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GBM(24;432 554 38471 39699 51728)				168				0.231293	97.271909	106.996821	34	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179467544	179467544	13915	5	C	G	G	G	415	32	RNF130	3	3
TRIM7	81786	broad.mit.edu	37	5	180625764	180625764	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180625764G>C	uc003mmz.1	-	c.914C>G	c.(913-915)TCT>TGT	p.S305C	TRIM7_uc003mmv.1_Missense_Mutation_p.S123C|TRIM7_uc003mmw.1_Missense_Mutation_p.S97C|TRIM7_uc003mmx.1_Missense_Mutation_p.S97C|TRIM7_uc003mmy.1_Missense_Mutation_p.S97C	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	305						cytoplasm|nucleus	zinc ion binding			ovary(1)|skin(1)	2	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		Esophageal Squamous(128;2258 2308 35507 48647)								0.227273	28.825846	31.829968	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180625764	180625764	17092	5	G	C	C	C	429	33	TRIM7	3	3
PLEKHG4B	153478	broad.mit.edu	37	5	182248	182248	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:182248C>T	uc003jak.2	+	c.3626C>T	c.(3625-3627)TCG>TTG	p.S1209L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	1209	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)										0.464646	136.227713	136.336231	46	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182248	182248	12498	5	C	T	T	T	403	31	PLEKHG4B	1	1
SLC45A2	51151	broad.mit.edu	37	5	33947450	33947450	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33947450C>A	uc003jid.2	-	c.1186G>T	c.(1186-1188)GGA>TGA	p.G396*	SLC45A2_uc003jie.2_Nonsense_Mutation_p.G396*	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	396	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)	2						Ovarian(31;380 859 8490 22203 49048)								0.315789	166.828304	172.564816	60	130	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33947450	33947450	15138	5	C	A	A	A	273	21	SLC45A2	5	2
OSMR	9180	broad.mit.edu	37	5	38919157	38919157	+	Silent	SNP	C	T	T	rs61734274		TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38919157C>T	uc003jln.1	+	c.1578C>T	c.(1576-1578)CCC>CCT	p.P526P	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	526	Fibronectin type-III 3.|Extracellular (Potential).				cell proliferation|positive regulation of acute inflammatory response|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_lung(31;0.000365)													0.410256	131.365004	132.191029	48	69	KEEP	---	---	---	---	capture		Silent	SNP	38919157	38919157	11703	5	C	T	T	T	288	23	OSMR	1	1
C7	730	broad.mit.edu	37	5	40979921	40979921	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40979921A>T	uc003jmh.2	+	c.2260A>T	c.(2260-2262)AAT>TAT	p.N754Y	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	754	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.459016	74.577059	74.667729	28	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40979921	40979921	2482	5	A	T	T	T	13	1	C7	3	3
VCAN	1462	broad.mit.edu	37	5	82786237	82786237	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82786237G>T	uc003kii.3	+	c.391G>T	c.(391-393)GAC>TAC	p.D131Y	VCAN_uc003kij.3_Missense_Mutation_p.D131Y|VCAN_uc010jau.2_Missense_Mutation_p.D131Y|VCAN_uc003kik.3_Missense_Mutation_p.D131Y|VCAN_uc003kih.3_Missense_Mutation_p.D131Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	131	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.484375	181.434396	181.461955	62	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82786237	82786237	17703	5	G	T	T	T	585	45	VCAN	2	2
VCAN	1462	broad.mit.edu	37	5	82833543	82833543	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82833543T>A	uc003kii.3	+	c.4721T>A	c.(4720-4722)GTA>GAA	p.V1574E	VCAN_uc003kij.3_Missense_Mutation_p.V587E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.V238E	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1574	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.323232	89.892421	92.624687	32	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82833543	82833543	17703	5	T	A	A	A	741	57	VCAN	3	3
SIM1	6492	broad.mit.edu	37	6	100838959	100838959	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100838959G>T	uc003pqj.3	-	c.1579C>A	c.(1579-1581)CAT>AAT	p.H527N	SIM1_uc010kcu.2_Missense_Mutation_p.H527N	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	527	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)										0.592105	133.168598	133.728297	45	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100838959	100838959	14818	6	G	T	T	T	585	45	SIM1	2	2
TIAM2	26230	broad.mit.edu	37	6	155465909	155465909	+	Silent	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155465909C>T	uc003qqb.2	+	c.1800C>T	c.(1798-1800)TTC>TTT	p.F600F	TIAM2_uc003qqe.2_Silent_p.F600F|TIAM2_uc010kjj.2_Silent_p.F133F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	600	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)										0.517986	225.200623	225.239759	72	67	KEEP	---	---	---	---	capture		Silent	SNP	155465909	155465909	16419	6	C	T	T	T	389	30	TIAM2	2	2
LPA	4018	broad.mit.edu	37	6	160953584	160953584	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160953584G>A	uc003qtl.2	-	c.5940C>T	c.(5938-5940)GCC>GCT	p.A1980A		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4488	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.6	136.05842	136.669367	42	28	KEEP	---	---	---	---	capture		Silent	SNP	160953584	160953584	9276	6	G	A	A	A	600	47	LPA	2	2
PDE10A	10846	broad.mit.edu	37	6	165808736	165808736	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165808736C>A	uc003quo.2	-	c.1439G>T	c.(1438-1440)GGT>GTT	p.G480V	PDE10A_uc011egj.1_Non-coding_Transcript|PDE10A_uc011egk.1_Missense_Mutation_p.G400V|PDE10A_uc003qun.2_Missense_Mutation_p.G470V	NM_001130690	NP_001124162	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 1	470					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)	3		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	Esophageal Squamous(22;308 615 5753 12038 40624)								0.563636	99.02815	99.221553	31	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165808736	165808736	12051	6	C	A	A	A	234	18	PDE10A	2	2
SCAND3	114821	broad.mit.edu	37	6	28540528	28540528	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28540528C>A	uc003nlo.2	-	c.3138G>T	c.(3136-3138)ATG>ATT	p.M1046I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1046					DNA integration|regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.568966	211.760116	212.239825	66	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28540528	28540528	14357	6	C	A	A	A	273	21	SCAND3	2	2
OR12D2	26529	broad.mit.edu	37	6	29364792	29364792	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29364792G>T	uc003nmf.3	+	c.316G>T	c.(316-318)GGC>TGC	p.G106C		NM_013936	NP_039224	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.5	44.78531	44.78531	16	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29364792	29364792	11337	6	G	T	T	T	559	43	OR12D2	2	2
ACHE	43	broad.mit.edu	37	7	100490353	100490353	+	Silent	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100490353G>A	uc003uxe.2	-	c.1155C>T	c.(1153-1155)ATC>ATT	p.I385I	ACHE_uc003uxd.2_Silent_p.I385I|ACHE_uc003uxf.2_Silent_p.I385I|ACHE_uc003uxg.2_Silent_p.I385I|ACHE_uc003uxh.2_Intron|ACHE_uc003uxi.2_Silent_p.I385I	NM_015831	NP_056646	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E5 precursor	385					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|negative regulation of synaptic transmission, cholinergic|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)									0.338235	124.784691	127.943105	46	90	KEEP	---	---	---	---	capture		Silent	SNP	100490353	100490353	142	7	G	A	A	A	577	45	ACHE	2	2
WNT2	7472	broad.mit.edu	37	7	116937675	116937675	+	Silent	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116937675G>T	uc003viz.2	-	c.844C>A	c.(844-846)CGA>AGA	p.R282R	WNT2_uc003vja.2_Silent_p.R186R	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	282					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			central_nervous_system(2)|ovary(1)|breast(1)	4	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)										0.618182	235.723798	237.071086	68	42	KEEP	---	---	---	---	capture		Silent	SNP	116937675	116937675	17960	7	G	T	T	T	506	39	WNT2	1	1
FEZF1	389549	broad.mit.edu	37	7	121943805	121943805	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121943805G>T	uc003vkd.2	-	c.687C>A	c.(685-687)TAC>TAA	p.Y229*	FEZF1_uc003vkc.2_Nonsense_Mutation_p.Y179*	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	229					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.632653	322.017354	324.294408	93	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	121943805	121943805	6062	7	G	T	T	T	620	48	FEZF1	5	2
AKR1B15	441282	broad.mit.edu	37	7	134253052	134253052	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134253052G>T	uc011kpr.1	+	c.293G>T	c.(292-294)CGG>CTG	p.R98L	AKR1B15_uc003vrt.2_Missense_Mutation_p.R70L|AKR1B15_uc011kps.1_Missense_Mutation_p.R70L	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	98					oxidation-reduction process		oxidoreductase activity			ovary(1)	1														0.605634	294.184814	295.57457	86	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134253052	134253052	471	7	G	T	T	T	507	39	AKR1B15	1	1
CUL1	8454	broad.mit.edu	37	7	148497615	148497615	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148497615G>C	uc010lpg.2	+	c.2272G>C	c.(2272-2274)GAG>CAG	p.E758Q	CUL1_uc003wey.2_Missense_Mutation_p.E758Q|CUL1_uc003wez.2_Missense_Mutation_p.E648Q|CUL1_uc003wfa.2_Missense_Mutation_p.E419Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	758					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)											0.208696	70.333953	79.369626	24	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148497615	148497615	4214	7	G	C	C	C	585	45	CUL1	3	3
CPVL	54504	broad.mit.edu	37	7	29070207	29070207	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29070207C>A	uc003szv.2	-	c.1306G>T	c.(1306-1308)GGT>TGT	p.G436C	CPVL_uc003szw.2_Missense_Mutation_p.G436C|CPVL_uc003szx.2_Missense_Mutation_p.G436C	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	436					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2														0.288557	152.340091	160.416753	58	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29070207	29070207	3974	7	C	A	A	A	286	22	CPVL	2	2
SDK1	221935	broad.mit.edu	37	7	4153810	4153810	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4153810G>A	uc003smx.2	+	c.3727G>A	c.(3727-3729)GAG>AAG	p.E1243K	SDK1_uc010kso.2_Missense_Mutation_p.E519K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1243	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.285714	63.965976	67.426846	24	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4153810	4153810	14454	7	G	A	A	A	533	41	SDK1	2	2
ABCA13	154664	broad.mit.edu	37	7	48266982	48266982	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48266982G>T	uc003toq.2	+	c.592G>T	c.(592-594)GGC>TGC	p.G198C	ABCA13_uc003top.2_Missense_Mutation_p.G198C|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	198					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.472222	158.513897	158.586734	51	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48266982	48266982	32	7	G	T	T	T	611	47	ABCA13	2	2
KIAA0196	9897	broad.mit.edu	37	8	126091004	126091004	+	Silent	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:126091004C>G	uc003yrt.2	-	c.687G>C	c.(685-687)CTG>CTC	p.L229L	KIAA0196_uc011lir.1_Silent_p.L81L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	229				L -> R (in Ref. 4; AAH26951).	cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)											0.556391	287.263292	287.631099	74	59	KEEP	---	---	---	---	capture		Silent	SNP	126091004	126091004	8468	8	C	G	G	G	366	29	KIAA0196	3	3
DLC1	10395	broad.mit.edu	37	8	12957250	12957250	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:12957250G>A	uc003wwm.2	-	c.2596C>T	c.(2596-2598)CGC>TGC	p.R866C	DLC1_uc003wwk.1_Missense_Mutation_p.R429C|DLC1_uc003wwl.1_Missense_Mutation_p.R463C|DLC1_uc011kxx.1_Missense_Mutation_p.R355C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	866					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7										739				0.566667	50.074772	50.190572	17	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12957250	12957250	4730	8	G	A	A	A	520	40	DLC1	1	1
JRK	8629	broad.mit.edu	37	8	143747207	143747207	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143747207G>A	uc003ywp.2	-	c.271C>T	c.(271-273)CGC>TGC	p.R91C	JRK_uc003ywo.2_Missense_Mutation_p.R91C|JRK_uc010mew.1_Missense_Mutation_p.R91C	NM_003724	NP_003715			jerky isoform a												0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)												0.615385	24.700798	24.852186	8	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143747207	143747207	8268	8	G	A	A	A	507	39	JRK	1	1
ZNF623	9831	broad.mit.edu	37	8	144733027	144733027	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144733027A>T	uc003yzd.2	+	c.985A>T	c.(985-987)ATT>TTT	p.I329F	ZNF623_uc011lkp.1_Missense_Mutation_p.I289F|ZNF623_uc003yzc.2_Missense_Mutation_p.I289F	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	329	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)											0.25	69.403325	75.309242	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144733027	144733027	18642	8	A	T	T	T	208	16	ZNF623	3	3
DOCK5	80005	broad.mit.edu	37	8	25182907	25182907	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25182907A>G	uc003xeg.2	+	c.1747A>G	c.(1747-1749)AAA>GAA	p.K583E	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.K297E|DOCK5_uc003xei.2_Missense_Mutation_p.K153E|DOCK5_uc003xej.2_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	583	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		Pancreas(145;34 1887 3271 10937 30165)								0.589744	179.469184	180.01922	46	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25182907	25182907	4874	8	A	G	G	G	169	13	DOCK5	4	4
CSMD1	64478	broad.mit.edu	37	8	3063038	3063038	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3063038G>T	uc011kwk.1	-	c.4975C>A	c.(4975-4977)CCA>ACA	p.P1659T	CSMD1_uc011kwj.1_Missense_Mutation_p.P1051T|CSMD1_uc003wqe.2_Missense_Mutation_p.P815T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1659	Extracellular (Potential).|CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.666667	13.301791	13.449337	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3063038	3063038	4085	8	G	T	T	T	572	44	CSMD1	2	2
TEX15	56154	broad.mit.edu	37	8	30705190	30705190	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30705190T>A	uc003xil.2	-	c.1344A>T	c.(1342-1344)GAA>GAT	p.E448D		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	448										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.538043	308.832948	309.064362	99	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30705190	30705190	16306	8	T	A	A	A	725	56	TEX15	3	3
HTRA4	203100	broad.mit.edu	37	8	38831817	38831817	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38831817G>T	uc003xmj.2	+	c.35G>T	c.(34-36)GGA>GTA	p.G12V		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	12					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)											0.583333	18.621115	18.693017	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38831817	38831817	7756	8	G	T	T	T	533	41	HTRA4	2	2
SNTG1	54212	broad.mit.edu	37	8	51449322	51449322	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51449322C>T	uc010lxy.1	+	c.634C>T	c.(634-636)CTT>TTT	p.L212F	SNTG1_uc003xqs.1_Missense_Mutation_p.L212F|SNTG1_uc010lxz.1_Missense_Mutation_p.L212F|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	212					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.546816	471.66652	472.176798	146	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51449322	51449322	15374	8	C	T	T	T	260	20	SNTG1	2	2
LY96	23643	broad.mit.edu	37	8	74903787	74903787	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:74903787G>T	uc003yad.2	+	c.110G>T	c.(109-111)TGT>TTT	p.C37F		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	37					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GBM(131;1357 1748 34893 50149 52212)								0.158371	71.775923	96.366198	35	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74903787	74903787	9479	8	G	T	T	T	624	48	LY96	2	2
ZBTB10	65986	broad.mit.edu	37	8	81426180	81426180	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:81426180G>C	uc003ybx.3	+	c.1897G>C	c.(1897-1899)GAT>CAT	p.D633H	ZBTB10_uc003ybv.3_Missense_Mutation_p.D341H|ZBTB10_uc003ybw.3_Missense_Mutation_p.D633H|ZBTB10_uc010lzt.2_Missense_Mutation_p.D631H	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	633					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)											0.2	30.491267	35.096327	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81426180	81426180	18109	8	G	C	C	C	585	45	ZBTB10	3	3
RUNX1T1	862	broad.mit.edu	37	8	92983040	92983040	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92983040G>T	uc011lgi.1	-	c.1418C>A	c.(1417-1419)ACG>AAG	p.T473K	RUNX1T1_uc003yfc.1_Missense_Mutation_p.T435K|RUNX1T1_uc003yfd.2_Missense_Mutation_p.T462K|RUNX1T1_uc003yfe.1_Missense_Mutation_p.T425K|RUNX1T1_uc010mao.2_Missense_Mutation_p.T435K|RUNX1T1_uc010man.1_Missense_Mutation_p.T87K|RUNX1T1_uc003yfb.1_Missense_Mutation_p.T425K	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	462					generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)							213				0.3	59.546942	62.049294	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92983040	92983040	14227	8	G	T	T	T	520	40	RUNX1T1	1	1
C9orf30	91283	broad.mit.edu	37	9	103213223	103213223	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:103213223A>G	uc004baw.2	+	c.803A>G	c.(802-804)AAC>AGC	p.N268S	TMEFF1_uc004bay.1_Intron|C9orf30_uc004bax.2_Non-coding_Transcript	NM_080655	NP_542386	Q96H12	CI030_HUMAN	hypothetical protein LOC91283	268										ovary(1)	1		Acute lymphoblastic leukemia(62;0.0527)												0.8	210.940885	216.383131	52	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103213223	103213223	2593	9	A	G	G	G	26	2	C9orf30	4	4
ABCA1	19	broad.mit.edu	37	9	107550287	107550287	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107550287T>G	uc004bcl.2	-	c.6118A>C	c.(6118-6120)AAA>CAA	p.K2040Q	NIPSNAP3B_uc004bcj.1_Non-coding_Transcript	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2040	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.257485	134.748691	143.650643	43	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107550287	107550287	29	9	T	G	G	G	832	64	ABCA1	4	4
SVEP1	79987	broad.mit.edu	37	9	113194786	113194786	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113194786C>A	uc010mtz.2	-	c.5189G>T	c.(5188-5190)TGT>TTT	p.C1730F		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1730	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.692308	309.101467	313.393997	90	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113194786	113194786	15940	9	C	A	A	A	221	17	SVEP1	2	2
STXBP1	6812	broad.mit.edu	37	9	130428493	130428493	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130428493G>C	uc004brk.2	+	c.712G>C	c.(712-714)GAC>CAC	p.D238H	STXBP1_uc004brl.2_Missense_Mutation_p.D238H	NM_003165	NP_003156	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform a	238					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding				0														0.559524	176.236012	176.49512	47	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130428493	130428493	15872	9	G	C	C	C	585	45	STXBP1	3	3
AIF1L	83543	broad.mit.edu	37	9	133995667	133995667	+	Silent	SNP	A	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133995667A>T	uc004cad.1	+	c.489A>T	c.(487-489)CCA>CCT	p.P163P	AIF1L_uc004cab.1_Silent_p.P137P|AIF1L_uc004cae.1_3'UTR|AIF1L_uc004cac.1_Non-coding_Transcript|AIF1L_uc011mce.1_Silent_p.P142P	NM_031426	NP_113614	Q9BQI0	AIF1L_HUMAN	ionized calcium binding adapter molecule 2	137						actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding				0						Esophageal Squamous(95;611 1423 5044 34794 42333)								0.595238	83.88233	84.215316	25	17	KEEP	---	---	---	---	capture		Silent	SNP	133995667	133995667	428	9	A	T	T	T	80	7	AIF1L	3	3
EHMT1	79813	broad.mit.edu	37	9	140611349	140611349	+	Silent	SNP	C	G	G			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140611349C>G	uc011mfc.1	+	c.357C>G	c.(355-357)GTC>GTG	p.V119V	EHMT1_uc004coa.2_Silent_p.V119V|EHMT1_uc004cob.1_Silent_p.V88V	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	119					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)										0.690265	292.40886	296.073529	78	35	KEEP	---	---	---	---	capture		Silent	SNP	140611349	140611349	5172	9	C	G	G	G	366	29	EHMT1	3	3
ZCCHC7	84186	broad.mit.edu	37	9	37305697	37305697	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37305697G>T	uc003zzq.2	+	c.937G>T	c.(937-939)GGC>TGC	p.G313C	ZCCHC7_uc011lqh.1_Missense_Mutation_p.G23C|ZCCHC7_uc011lqi.1_Missense_Mutation_p.G312C|ZCCHC7_uc010mlt.2_Missense_Mutation_p.G312C	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	313	CCHC-type 3.						nucleic acid binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.0137)										0.52381	102.378939	102.41027	33	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37305697	37305697	18181	9	G	T	T	T	455	35	ZCCHC7	2	2
DMRT3	58524	broad.mit.edu	37	9	990765	990765	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:990765C>A	uc003zgw.1	+	c.1179C>A	c.(1177-1179)AAC>AAA	p.N393K		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	393					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)										0.5	50.525072	50.525072	15	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	990765	990765	4767	9	C	A	A	A	220	17	DMRT3	2	2
NRK	203447	broad.mit.edu	37	X	105167242	105167242	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105167242G>A	uc004emd.2	+	c.2743G>A	c.(2743-2745)GAA>AAA	p.E915K	NRK_uc010npc.1_Missense_Mutation_p.E583K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	915					protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14									p.E915*(HCC1438-Tumor)	430				0.5	53.373295	53.373295	17	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105167242	105167242	11060	23	G	A	A	A	585	45	NRK	2	2
MBNL3	55796	broad.mit.edu	37	X	131573492	131573492	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:131573492G>A	uc004ewv.3	-	c.148C>T	c.(148-150)CGT>TGT	p.R50C	MBNL3_uc004eww.2_5'UTR|MBNL3_uc010nrl.1_Non-coding_Transcript|MBNL3_uc004ewu.3_Missense_Mutation_p.R50C	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN	muscleblind-like 3 isoform G	50	C3H1-type 2.				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.184874	46.282398	57.363613	22	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131573492	131573492	9743	23	G	A	A	A	481	37	MBNL3	1	1
MAGEB3	4114	broad.mit.edu	37	X	30254710	30254710	+	Silent	SNP	C	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30254710C>A	uc004dca.1	+	c.669C>A	c.(667-669)ATC>ATA	p.I223I		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	223	MAGE.										0														0.388889	20.020072	20.215049	7	11	KEEP	---	---	---	---	capture		Silent	SNP	30254710	30254710	9558	23	C	A	A	A	408	32	MAGEB3	2	2
MAGEB1	4112	broad.mit.edu	37	X	30268769	30268769	+	Silent	SNP	T	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30268769T>A	uc004dcc.2	+	c.159T>A	c.(157-159)CCT>CCA	p.P53P	MAGEB1_uc004dcd.2_Silent_p.P53P|MAGEB1_uc004dce.2_Silent_p.P53P	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	53											0														0.461538	17.847905	17.8647	6	7	KEEP	---	---	---	---	capture		Silent	SNP	30268769	30268769	9553	23	T	A	A	A	704	55	MAGEB1	3	3
MXRA5	25878	broad.mit.edu	37	X	3242083	3242083	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3242083G>A	uc004crg.3	-	c.1643C>T	c.(1642-1644)TCT>TTT	p.S548F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	548	Ig-like C2-type 1.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.428571	18.046097	18.108707	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3242083	3242083	10397	23	G	A	A	A	429	33	MXRA5	2	2
RBM10	8241	broad.mit.edu	37	X	47044476	47044477	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47044476_47044477GG>AT	uc004dhi.2	+	c.2168_2169GG>AT	c.(2167-2169)TGG>TAT	p.W723Y	RBM10_uc004dhf.2_Missense_Mutation_p.W658Y|RBM10_uc004dhg.2_Missense_Mutation_p.W580Y|RBM10_uc004dhh.2_Missense_Mutation_p.W657Y|RBM10_uc010nhq.2_Missense_Mutation_p.W581Y	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	658					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3						Melanoma(171;120 2705 19495 39241)								0.6	17.049166	17.136101	6	4	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47044476	47044477	13572	23	GG	AT	AT	AT	611	47	RBM10	2	2
GLOD5	392465	broad.mit.edu	37	X	48629475	48629475	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48629475G>C	uc011mmh.1	+	c.334G>C	c.(334-336)GAG>CAG	p.E112Q		NM_001080489	NP_001073958			glyoxalase domain containing 5												0														0.578947	43.428696	43.532048	11	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48629475	48629475	6719	23	G	C	C	C	533	41	GLOD5	3	3
NLRP5	126206	broad.mit.edu	37	19	56538866	56538867	+	Frame_Shift_Ins	INS	-	CC	CC			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56538866_56538867insCC	uc002qmj.2	+	c.1267_1268insCC	c.(1267-1269)TCTfs	p.S423fs	NLRP5_uc002qmi.2_Frame_Shift_Ins_p.S404fs	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	423	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.46			11	13		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	56538866	56538867	10883	19	-	CC	CC	CC	754	58	NLRP5	5	5
C1orf35	79169	broad.mit.edu	37	1	228289088	228289093	+	In_Frame_Del	DEL	TCTTTG	-	-			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228289088_228289093delTCTTTG	uc001hrx.2	-	c.615_620delCAAAGA	c.(613-621)GACAAAGAG>GAG	p.DK205del	C1orf35_uc009xew.2_Non-coding_Transcript	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	hypothetical protein LOC79169	205_206	Lys-rich.										0		Prostate(94;0.0488)												0.31			21	47		---	---	---	---	capture_indel		In_Frame_Del	DEL	228289088	228289093	2112	1	TCTTTG	-	-	-	702	54	C1orf35	5	5
ALPP	250	broad.mit.edu	37	2	233244592	233244592	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4395-01	TCGA-05-4395-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233244592_233244592delC	uc002vsq.2	+	c.603_603delC	c.(601-603)CGCfs	p.R201fs	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	201						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)										0.46			34	40		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	233244592	233244592	551	2	C	-	-	-	327	26	ALPP	5	5
