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	i_TCGAscape_Amplification_Peaks	i_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_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
PKD2L1	9033	broad.mit.edu	36	10	102048424	102048424	+	Missense_Mutation	SNP	G	A	A	rs2305383	by-hapmap	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102048424G>A	uc001kqx.1	-	c.616C>T	c.(616-618)CGC>TGC	p.R206C	PKD2L1_uc009xwm.1_Missense_Mutation_p.R159C	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	206	Extracellular (Potential).|Polycystin motif.				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)												0.403226	146.524729	147.539526	50	74	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	Missense_Mutation	SNP	102048424	102048424	12392	10	G	A	A	39	39	PKD2L1	A	1	1
MRPL43	84545	broad.mit.edu	36	10	102733508	102733508	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102733508G>A	uc001ksa.1	-	c.649C>T	c.(649-651)CGA>TGA	p.R217*	SEMA4G_uc001krv.2_Non-coding_Transcript|SEMA4G_uc001krw.1_Missense_Mutation_p.R721Q|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Silent_p.P174P|MRPL43_uc001krz.1_Non-coding_Transcript|MRPL43_uc001ksb.1_Silent_p.P174P	NM_176794	NP_789764	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43 isoform d	Error:Variant_position_missing_in_Q8N983_after_alignment					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Colorectal(252;0.234)												0.210526	9.189905	10.662471	4	15	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	Nonsense_Mutation	SNP	102733508	102733508	10200	10	G	A	A	39	39	MRPL43	A	5	1
C10orf2	56652	broad.mit.edu	36	10	102740651	102740651	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102740651G>A	uc001ksf.1	+	c.1628G>A	c.(1627-1629)CGG>CAG	p.R543Q	C10orf2_uc001ksg.1_Missense_Mutation_p.R543Q|C10orf2_uc001ksh.1_Non-coding_Transcript|C10orf2_uc001ksi.1_Missense_Mutation_p.R89Q	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle	543	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)												0.291139	188.698622	197.948874	69	168	GG		KEEP	---	---	---	---	capture		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	Missense_Mutation	SNP	102740651	102740651	1634	10	G	A	A	39	39	C10orf2	A	1	1
FGF8	2253	broad.mit.edu	36	10	103524480	103524480	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:103524480G>A	uc001ktq.1	-	c.336C>T	c.(334-336)TTC>TTT	p.F112F	FGF8_uc001ktp.1_Silent_p.F101F|FGF8_uc001ktr.1_Silent_p.F83F|FGF8_uc001kts.1_Silent_p.F72F|FGF8_uc009xwr.1_Silent_p.F8F	NM_033163	NP_149353	P55075	FGF8_HUMAN	fibroblast growth factor 8 isoform F precursor	101					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0		Colorectal(252;0.122)												0.294118	24.93743	26.226863	10	24	GG		KEEP	---	---	---	---	capture		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)	Silent	SNP	103524480	103524480	6095	10	G	A	A	37	37	FGF8	A	1	1
SH3PXD2A	9644	broad.mit.edu	36	10	105353048	105353048	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105353048G>A	uc001kxj.1	-	c.1833C>T	c.(1831-1833)TCC>TCT	p.S611S	SH3PXD2A_uc009xxn.1_Silent_p.S446S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	639	Ser-rich.				cell communication	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)												0.286957	166.038405	175.416952	66	164	GG		KEEP	---	---	---	---	capture		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	Silent	SNP	105353048	105353048	14748	10	G	A	A	39	39	SH3PXD2A	A	1	1
CCDC147	159686	broad.mit.edu	36	10	106197537	106197537	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:106197537C>T	uc001kyh.1	+	c.2348C>T	c.(2347-2349)ACG>ATG	p.T783M		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	783	Potential.									ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.103)|Breast(234;0.122)												0.34	45.761309	46.891973	17	33	CC		KEEP	---	---	---	---	capture		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	Missense_Mutation	SNP	106197537	106197537	2901	10	C	T	T	19	19	CCDC147	T	1	1
CELF2	10659	broad.mit.edu	36	10	11403227	11403227	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:11403227C>T	uc001ikk.2	+	c.1202C>T	c.(1201-1203)ACG>ATG	p.T401M	CELF2_uc001iki.2_Missense_Mutation_p.T376M|CELF2_uc001ikl.2_Missense_Mutation_p.T389M|CELF2_uc001iko.2_Missense_Mutation_p.T356M|CELF2_uc001ikp.2_Missense_Mutation_p.T358M	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	376	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0														0.355556	88.461204	90.121118	32	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11403227	11403227	3349	10	C	T	T	19	19	CELF2	T	1	1
AFAP1L2	84632	broad.mit.edu	36	10	116065384	116065384	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:116065384G>A	uc001lbp.1	-	c.621C>T	c.(619-621)TGC>TGT	p.C207C	AFAP1L2_uc001lbn.1_Silent_p.C179C|AFAP1L2_uc001lbo.1_Silent_p.C179C|AFAP1L2_uc001lbr.1_Silent_p.C179C	NM_032550	NP_115939	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 2	179	PH 1.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)												0.265625	40.854362	44.026496	17	47	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.0219)|all cancers(201;0.0561)	Silent	SNP	116065384	116065384	356	10	G	A	A	38	38	AFAP1L2	A	1	1
AFAP1L2	84632	broad.mit.edu	36	10	116065465	116065465	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:116065465G>A	uc001lbp.1	-	c.540C>T	c.(538-540)GAC>GAT	p.D180D	AFAP1L2_uc001lbn.1_Silent_p.D152D|AFAP1L2_uc001lbo.1_Silent_p.D152D|AFAP1L2_uc001lbr.1_Silent_p.D152D	NM_032550	NP_115939	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 2	152					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)												0.512195	60.160882	60.165916	21	20	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.0219)|all cancers(201;0.0561)	Silent	SNP	116065465	116065465	356	10	G	A	A	40	40	AFAP1L2	A	1	1
ATRNL1	26033	broad.mit.edu	36	10	117065215	117065215	+	Missense_Mutation	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:117065215T>C	uc001lcg.1	+	c.3016T>C	c.(3016-3018)TGG>CGG	p.W1006R		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1	1006	PSI 5.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)												0.409396	175.044737	176.113353	61	88	TT		KEEP	---	---	---	---	capture		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	Missense_Mutation	SNP	117065215	117065215	1226	10	T	C	C	59	59	ATRNL1	C	4	4
GFRA1	2674	broad.mit.edu	36	10	117874948	117874948	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:117874948C>T	uc001lcj.1	-	c.544G>A	c.(544-546)GTG>ATG	p.V182M	GFRA1_uc001lci.1_Missense_Mutation_p.V177M|GFRA1_uc009xyr.1_Missense_Mutation_p.V177M	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	182	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell line-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)				Ovarian(128;329 1725 45498 46808 50759)								0.453125	90.074029	90.195461	29	35	CC		KEEP	---	---	---	---	capture		all cancers(201;0.0337)	Missense_Mutation	SNP	117874948	117874948	6615	10	C	T	T	19	19	GFRA1	T	1	1
TACC2	10579	broad.mit.edu	36	10	123944671	123944671	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:123944671G>A	uc001lfv.1	+	c.5961G>A	c.(5959-5961)CCG>CCA	p.P1987P	TACC2_uc001lfw.1_Silent_p.P133P|TACC2_uc009xzx.1_Silent_p.P1942P|TACC2_uc001lfx.1_5'UTR|TACC2_uc001lfy.1_5'UTR|TACC2_uc001lfz.1_Silent_p.P65P|TACC2_uc001lga.1_Silent_p.P65P|TACC2_uc009xzy.1_Silent_p.P65P	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1987	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.56962	151.301443	151.640169	45	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	123944671	123944671	16023	10	G	A	A	39	39	TACC2	A	1	1
CUZD1	50624	broad.mit.edu	36	10	124595293	124595293	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:124595293C>T	uc001lgq.1	-	c.57G>A	c.(55-57)GCG>GCA	p.A19A	CUZD1_uc001lgr.1_5'UTR|CUZD1_uc009yae.1_5'UTR|CUZD1_uc009yaf.1_5'UTR|CUZD1_uc001lgs.1_Silent_p.A19A	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	19					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)	1		all_neural(114;0.169)|Glioma(114;0.222)												0.419355	42.170418	42.346246	13	18	CC		KEEP	---	---	---	---	capture		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	Silent	SNP	124595293	124595293	4226	10	C	T	T	23	23	CUZD1	T	1	1
GPR26	2849	broad.mit.edu	36	10	125437455	125437455	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:125437455C>T	uc001lhh.1	+	c.803C>T	c.(802-804)ACG>ATG	p.T268M		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	268	Extracellular (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)												0.379747	76.216432	77.223013	30	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	125437455	125437455	6959	10	C	T	T	19	19	GPR26	T	1	1
CTBP2	1488	broad.mit.edu	36	10	126676542	126676542	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126676542C>T	uc001lie.2	-	c.2166G>A	c.(2164-2166)ACG>ACA	p.T722T	CTBP2_uc009yak.1_Silent_p.T182T|CTBP2_uc009yal.1_Silent_p.T182T|CTBP2_uc001lif.2_Silent_p.T182T|CTBP2_uc001lih.2_Silent_p.T182T|CTBP2_uc001lid.2_Silent_p.T250T	NM_022802	NP_073713	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 2	182					negative regulation of cell proliferation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|transcription repressor activity				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)								463				0.38	51.830764	52.455307	19	31	CC		KEEP	---	---	---	---	capture		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	Silent	SNP	126676542	126676542	4157	10	C	T	T	27	27	CTBP2	T	1	1
DOCK1	1793	broad.mit.edu	36	10	128711507	128711507	+	Nonsense_Mutation	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:128711507G>T	uc001ljt.1	+	c.1318G>T	c.(1318-1320)GGA>TGA	p.G440*		NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	440	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)												0.379913	247.566913	250.464863	87	142	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	Nonsense_Mutation	SNP	128711507	128711507	4868	10	G	T	T	35	35	DOCK1	T	5	3
DOCK1	1793	broad.mit.edu	36	10	128731418	128731418	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:128731418C>T	uc001ljt.1	+	c.2138C>T	c.(2137-2139)ACG>ATG	p.T713M		NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	713					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)												0.411765	42.845564	43.076246	14	20	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	Missense_Mutation	SNP	128731418	128731418	4868	10	C	T	T	19	19	DOCK1	T	1	1
SUV39H2	79723	broad.mit.edu	36	10	14983190	14983190	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:14983190G>A	uc001inh.1	+	c.869G>A	c.(868-870)CGT>CAT	p.R290H	SUV39H2_uc001ing.1_Missense_Mutation_p.R170H|SUV39H2_uc001ini.1_Missense_Mutation_p.R290H|SUV39H2_uc001inj.1_Missense_Mutation_p.R290H	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	350	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3														0.337553	224.013812	229.551589	80	157	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14983190	14983190	15933	10	G	A	A	40	40	SUV39H2	A	1	1
NMT2	9397	broad.mit.edu	36	10	15201361	15201361	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:15201361G>A	uc001inz.1	-	c.1157C>T	c.(1156-1158)ACG>ATG	p.T386M	NMT2_uc001ioa.1_Missense_Mutation_p.T373M|NMT2_uc009xjo.1_Missense_Mutation_p.T386M	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	386					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						Melanoma(117;1345 1645 4130 12688 30625)								0.365079	261.535448	265.56817	92	160	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15201361	15201361	10907	10	G	A	A	40	40	NMT2	A	1	1
PTER	9317	broad.mit.edu	36	10	16568535	16568535	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:16568535G>A	uc001iog.1	+	c.611G>A	c.(610-612)CGG>CAG	p.R204Q	PTER_uc001ioh.1_Missense_Mutation_p.R204Q|PTER_uc001ioi.1_Missense_Mutation_p.R204Q|PTER_uc009xjp.1_Missense_Mutation_p.R204Q	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	204					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						Ovarian(2;46 150 15648 38137 47908)								0.345588	140.388823	143.249782	47	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16568535	16568535	13193	10	G	A	A	39	39	PTER	A	1	1
PTCHD3	374308	broad.mit.edu	36	10	27743003	27743003	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:27743003C>T	uc001itu.1	-	c.183G>A	c.(181-183)GCG>GCA	p.A61A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	61					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4														0.422222	108.135837	108.610379	38	52	CC		KEEP	---	---	---	---	capture			Silent	SNP	27743003	27743003	13188	10	C	T	T	19	19	PTCHD3	T	1	1
SVIL	6840	broad.mit.edu	36	10	29862078	29862078	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:29862078C>T	uc001iut.1	-	c.1224G>A	c.(1222-1224)ACG>ACA	p.T408T	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Silent_p.T408T	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	408					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.32967	90.21968	92.559549	30	61	CC		KEEP	---	---	---	---	capture			Silent	SNP	29862078	29862078	15941	10	C	T	T	23	23	SVIL	T	1	1
EPC1	80314	broad.mit.edu	36	10	32621993	32621993	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:32621993G>A	uc001iwg.1	-	c.595C>T	c.(595-597)CGA>TGA	p.R199*	EPC1_uc001iwh.1_Nonsense_Mutation_p.R199*|EPC1_uc001iwi.2_Nonsense_Mutation_p.R149*|EPC1_uc009xlt.1_Nonsense_Mutation_p.R149*	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	199					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex	transcription activator activity|transcription repressor activity			ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)												0.547945	123.905501	124.051671	40	33	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	32621993	32621993	5353	10	G	A	A	38	38	EPC1	A	5	1
CUL2	8453	broad.mit.edu	36	10	35367872	35367872	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:35367872G>A	uc001ixv.1	-	c.859C>T	c.(859-861)CGA>TGA	p.R287*	CUL2_uc009xma.1_Nonsense_Mutation_p.R156*|CUL2_uc001ixw.1_Nonsense_Mutation_p.R287*	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	287					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|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3														0.333333	42.110187	43.217121	15	30	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	35367872	35367872	4215	10	G	A	A	37	37	CUL2	A	5	1
DIP2C	22982	broad.mit.edu	36	10	420077	420077	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:420077G>A	uc001ifp.1	-	c.1766C>T	c.(1765-1767)GCG>GTG	p.A589V	DIP2C_uc009xhj.1_Missense_Mutation_p.A285V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	589						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)								1018				0.348485	126.507404	129.182926	46	86	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	Missense_Mutation	SNP	420077	420077	4708	10	G	A	A	38	38	DIP2C	A	1	1
DIP2C	22982	broad.mit.edu	36	10	450020	450020	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:450020G>A	uc001ifp.1	-	c.890C>T	c.(889-891)CCG>CTG	p.P297L	DIP2C_uc009xhj.1_5'UTR	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	297						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)							p.P297L(IGROV1-Tumor)	1018				0.428571	95.977696	96.335558	33	44	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	Missense_Mutation	SNP	450020	450020	4708	10	G	A	A	39	39	DIP2C	A	1	1
PPYR1	5540	broad.mit.edu	36	10	46507167	46507167	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:46507167G>A	uc001jee.1	+	c.378G>A	c.(376-378)ACG>ACA	p.T126T	ANXA8_uc001jed.2_Intron|PPYR1_uc009xna.1_Silent_p.T126T|PPYR1_uc009xnb.1_Silent_p.T126T	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	126	Helical; Name=3; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)	1														0.119289	62.046253	118.01488	47	347	GG		KEEP	---	---	---	---	capture			Silent	SNP	46507167	46507167	12852	10	G	A	A	39	39	PPYR1	A	1	1
RBP3	5949	broad.mit.edu	36	10	48008056	48008056	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48008056G>A	uc001jez.1	-	c.2828C>T	c.(2827-2829)ACG>ATG	p.T943M		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	943	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.340426	84.268226	86.385325	32	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48008056	48008056	13626	10	G	A	A	40	40	RBP3	A	1	1
RBP3	5949	broad.mit.edu	36	10	48008264	48008264	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48008264C>T	uc001jez.1	-	c.2620G>A	c.(2620-2622)GGA>AGA	p.G874R		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	874	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.368421	39.540864	40.118783	14	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48008264	48008264	13626	10	C	T	T	23	23	RBP3	T	1	1
ARHGAP22	58504	broad.mit.edu	36	10	49333173	49333173	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:49333173C>T	uc001jgu.1	-	c.718G>A	c.(718-720)GTG>ATG	p.V240M	ARHGAP22_uc001jgt.1_Missense_Mutation_p.V224M|ARHGAP22_uc001jgv.1_De_novo_Start_OutOfFrame|ARHGAP22_uc001jgs.1_Missense_Mutation_p.V134M	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	224	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1														0.31746	54.985535	56.847596	20	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49333173	49333173	883	10	C	T	T	19	19	ARHGAP22	T	1	1
IL2RA	3559	broad.mit.edu	36	10	6103531	6103531	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:6103531C>T	uc001iiz.1	-	c.499G>A	c.(499-501)GTC>ATC	p.V167I	IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	167	Sushi 2.|Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)	1					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)					318				0.37037	260.09242	263.678223	90	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6103531	6103531	7987	10	C	T	T	19	19	IL2RA	T	1	1
PFKFB3	5209	broad.mit.edu	36	10	6297252	6297252	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:6297252C>T	uc001ije.1	+	c.265C>T	c.(265-267)CGC>TGC	p.R89C	PFKFB3_uc001ijd.1_Missense_Mutation_p.R69C|PFKFB3_uc009xii.1_Non-coding_Transcript|PFKFB3_uc001ijf.1_Missense_Mutation_p.R89C	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	89	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3														0.285714	34.22311	36.248215	14	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6297252	6297252	12184	10	C	T	T	23	23	PFKFB3	T	1	1
ADAMTS14	140766	broad.mit.edu	36	10	72138416	72138416	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:72138416G>A	uc001jrg.1	+	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	ADAMTS14_uc001jrh.1_Missense_Mutation_p.R249Q	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	249					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)	5														0.322314	104.478775	107.873368	39	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72138416	72138416	260	10	G	A	A	39	39	ADAMTS14	A	1	1
ITIH5	80760	broad.mit.edu	36	10	7645147	7645147	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:7645147C>T	uc001ijq.1	-	c.2734G>A	c.(2734-2736)GCC>ACC	p.A912T	ITIH5_uc001ijp.1_Missense_Mutation_p.A698T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	912					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.277778	155.157959	164.724827	60	156	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7645147	7645147	8211	10	C	T	T	27	27	ITIH5	T	1	1
GATA3	2625	broad.mit.edu	36	10	8151465	8151465	+	Silent	SNP	G	A	A	rs12572959	by-cluster	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:8151465G>A	uc001ijz.1	+	c.948G>A	c.(946-948)ACG>ACA	p.T316T	GATA3_uc001ika.1_Silent_p.T315T	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 1	315					blood coagulation|cell fate determination|defense response|mesonephros development|negative regulation of cell proliferation|nephric duct formation|norepinephrine biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interleukin-4 production|regulation of cytokine biosynthetic process|response to estrogen stimulus|signal transduction|sympathetic nervous system development|transcription from RNA polymerase II promoter|ureteric bud formation	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(2)|central_nervous_system(2)	21														0.360825	98.909413	100.558264	35	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	8151465	8151465	6519	10	G	A	A	40	40	GATA3	A	1	1
SH2D4B	387694	broad.mit.edu	36	10	82353330	82353330	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:82353330C>T	uc001kck.1	+	c.659C>T	c.(658-660)GCG>GTG	p.A220V	SH2D4B_uc001kcl.1_Missense_Mutation_p.A171V|SH2D4B_uc001kcm.1_5'UTR	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	219	Glu-rich.										0														0.833333	32.156548	33.420074	10	2	CC		KEEP	---	---	---	---	capture	Colorectal(32;0.229)		Missense_Mutation	SNP	82353330	82353330	14727	10	C	T	T	27	27	SH2D4B	T	1	1
LARP4B	23185	broad.mit.edu	36	10	849112	849112	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:849112C>T	uc001ifs.1	-	c.1971G>A	c.(1969-1971)ACG>ACA	p.T657T		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 5	657							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3														0.310345	99.462992	103.17651	36	80	CC		KEEP	---	---	---	---	capture			Silent	SNP	849112	849112	8954	10	C	T	T	31	31	LARP4B	T	1	1
KIF20B	9585	broad.mit.edu	36	10	91523760	91523760	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:91523760G>A	uc001kgs.1	+	c.5438G>A	c.(5437-5439)CGA>CAA	p.R1813Q	KIF20B_uc001kgr.1_Missense_Mutation_p.R1773Q|KIF20B_uc001kgt.1_Missense_Mutation_p.R1024Q|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1813	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.333333	107.73951	110.469424	37	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91523760	91523760	8598	10	G	A	A	37	37	KIF20B	A	1	1
BTAF1	9044	broad.mit.edu	36	10	93763508	93763508	+	Missense_Mutation	SNP	T	A	A			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:93763508T>A	uc001khr.1	+	c.4416T>A	c.(4414-4416)AGT>AGA	p.S1472R		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1472					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0846)												0.348101	156.175961	159.39394	55	103	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93763508	93763508	1568	10	T	A	A	57	57	BTAF1	A	4	4
PDE6C	5146	broad.mit.edu	36	10	95389855	95389855	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:95389855C>T	uc001kiu.2	+	c.1521C>T	c.(1519-1521)TAC>TAT	p.Y507Y		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha	507					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)	3		Colorectal(252;0.123)												0.402299	202.18298	203.61355	70	104	CC		KEEP	---	---	---	---	capture			Silent	SNP	95389855	95389855	12068	10	C	T	T	19	19	PDE6C	T	1	1
TBC1D12	23232	broad.mit.edu	36	10	96224428	96224428	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:96224428G>A	uc001kjr.2	+	c.1109G>A	c.(1108-1110)CGA>CAA	p.R370Q		NM_015188	NP_056003	O60347	TBC12_HUMAN	TBC1 domain family, member 12	370						intracellular	Rab GTPase activator activity				0		Colorectal(252;0.0429)												0.34375	125.962965	128.722434	44	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96224428	96224428	16123	10	G	A	A	37	37	TBC1D12	A	1	1
SORBS1	10580	broad.mit.edu	36	10	97091383	97091383	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:97091383C>T	uc001kkp.1	-	c.2472G>A	c.(2470-2472)AAG>AAA	p.K824K	SORBS1_uc001kkk.1_Silent_p.K318K|SORBS1_uc001kkl.1_Silent_p.K426K|SORBS1_uc001kkm.1_Silent_p.K624K|SORBS1_uc001kkn.1_Silent_p.K589K|SORBS1_uc001kko.1_Silent_p.K846K|SORBS1_uc001kkq.1_Silent_p.K675K|SORBS1_uc001kkr.1_Silent_p.K530K|SORBS1_uc001kks.1_Silent_p.K474K|SORBS1_uc001kkt.1_Non-coding_Transcript|SORBS1_uc001kku.1_Silent_p.K571K|SORBS1_uc001kkv.1_Silent_p.K606K|SORBS1_uc001kkw.1_Silent_p.K778K	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	824	SH3 1.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)												0.327586	57.804499	59.333828	19	39	CC		KEEP	---	---	---	---	capture		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	Silent	SNP	97091383	97091383	15427	10	C	T	T	28	28	SORBS1	T	2	2
TLL2	7093	broad.mit.edu	36	10	98123429	98123429	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98123429G>A	uc001kml.1	-	c.2576C>T	c.(2575-2577)ACG>ATG	p.T859M		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	859	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)												0.37037	108.846475	110.449878	40	68	GG		KEEP	---	---	---	---	capture		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	Missense_Mutation	SNP	98123429	98123429	16476	10	G	A	A	40	40	TLL2	A	1	1
CRTAC1	55118	broad.mit.edu	36	10	99645139	99645139	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:99645139G>A	uc001kou.1	-	c.1339C>T	c.(1339-1341)CGA>TGA	p.R447*	CRTAC1_uc001kov.2_Nonsense_Mutation_p.R436*|CRTAC1_uc001kot.1_Nonsense_Mutation_p.R237*	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	447						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)												0.328947	65.242099	67.217151	25	51	GG		KEEP	---	---	---	---	capture		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	Nonsense_Mutation	SNP	99645139	99645139	4035	10	G	A	A	38	38	CRTAC1	A	5	1
TRPC6	7225	broad.mit.edu	36	11	100880359	100880359	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:100880359G>A	uc001pgk.2	-	c.551C>T	c.(550-552)CCG>CTG	p.P184L	TRPC6_uc009ywy.1_Missense_Mutation_p.P184L|TRPC6_uc009ywz.1_Missense_Mutation_p.P184L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	184	Cytoplasmic (Potential).|ANK 3.				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)				Colon(166;1315 1927 11094 12848 34731)								0.419643	142.80749	143.437785	47	65	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.0442)	Missense_Mutation	SNP	100880359	100880359	17134	11	G	A	A	39	39	TRPC6	A	1	1
MRVI1	10335	broad.mit.edu	36	11	10581248	10581248	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:10581248G>A	uc001miw.2	-	c.1843C>T	c.(1843-1845)CGC>TGC	p.R615C	MRVI1_uc009ygb.1_Missense_Mutation_p.R309C|MRVI1_uc001mix.2_Missense_Mutation_p.R309C|MRVI1_uc001miz.2_Missense_Mutation_p.R533C|MRVI1_uc009ygc.1_Missense_Mutation_p.R533C|MRVI1_uc009ygd.1_Missense_Mutation_p.R309C	NM_001098579	NP_001092049	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform a	597	Potential.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3														0.588235	31.554073	31.670381	10	7	GG		KEEP	---	---	---	---	capture		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	Missense_Mutation	SNP	10581248	10581248	10246	11	G	A	A	39	39	MRVI1	A	1	1
MUC2	4583	broad.mit.edu	36	11	1084855	1084855	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1084855C>T	uc001lsx.1	+	c.13029C>T	c.(13027-13029)TAC>TAT	p.Y4343Y		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4343						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)			Pranlukast(DB01411)									0.273224	125.072372	133.553781	50	133	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Silent	SNP	1084855	1084855	10369	11	C	T	T	19	19	MUC2	T	1	1
PPP2R1B	5519	broad.mit.edu	36	11	111131374	111131374	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:111131374C>T	uc001plw.1	-	c.698G>A	c.(697-699)CGC>CAC	p.R233H	PPP2R1B_uc001plx.1_Missense_Mutation_p.R233H	NM_181699	NP_859050	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	233	HEAT 6.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)												0.362069	61.962292	62.93204	21	37	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	Missense_Mutation	SNP	111131374	111131374	12819	11	C	T	T	27	27	PPP2R1B	T	1	1
CLDN25	644672	broad.mit.edu	36	11	113155743	113155743	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113155743C>T	uc009yyw.1	+	c.16C>T	c.(16-18)CGT>TGT	p.R6C		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin-like	6	Cytoplasmic (Potential).					integral to membrane|tight junction	structural molecule activity				0														0.34507	140.333654	143.342734	49	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113155743	113155743	3622	11	C	T	T	23	23	CLDN25	T	1	1
DSCAML1	57453	broad.mit.edu	36	11	116879804	116879804	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:116879804G>A	uc001prh.1	-	c.2505C>T	c.(2503-2505)ACC>ACT	p.T835T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	775	Extracellular (Potential).|Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)												0.410714	64.581326	64.978205	23	33	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	Silent	SNP	116879804	116879804	4953	11	G	A	A	39	39	DSCAML1	A	1	1
TMEM25	84866	broad.mit.edu	36	11	117908935	117908935	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117908935C>T	uc001ptk.2	+	c.476C>T	c.(475-477)CCG>CTG	p.P159L	TMEM25_uc009zad.1_Missense_Mutation_p.P159L|TMEM25_uc001pth.1_Missense_Mutation_p.P159L|TMEM25_uc001pti.1_Missense_Mutation_p.P55L|TMEM25_uc009zae.1_Missense_Mutation_p.P159L|TMEM25_uc001ptl.1_Missense_Mutation_p.P159L|TMEM25_uc001ptm.1_Missense_Mutation_p.P159L|TMEM25_uc001ptn.1_Missense_Mutation_p.P159L	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	159	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)												0.413333	89.512583	90.0033	31	44	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Missense_Mutation	SNP	117908935	117908935	16689	11	C	T	T	23	23	TMEM25	T	1	1
HYOU1	10525	broad.mit.edu	36	11	118431107	118431107	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118431107G>A	uc001puu.2	-	c.419C>T	c.(418-420)TCG>TTG	p.S140L	HYOU1_uc001put.2_Missense_Mutation_p.S105L|HYOU1_uc001puw.1_Missense_Mutation_p.S140L|HYOU1_uc001pux.2_3'UTR	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	140						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)												0.330769	120.301498	123.590497	43	87	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	Missense_Mutation	SNP	118431107	118431107	7770	11	G	A	A	37	37	HYOU1	A	1	1
ABCG4	64137	broad.mit.edu	36	11	118530805	118530805	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118530805C>T	uc001pvs.1	+	c.656C>T	c.(655-657)CCG>CTG	p.P219L	ABCG4_uc009zar.1_Missense_Mutation_p.P219L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	219	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)												0.366972	238.047851	241.437463	80	138	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	Missense_Mutation	SNP	118530805	118530805	71	11	C	T	T	23	23	ABCG4	T	1	1
MFRP	83552	broad.mit.edu	36	11	118722073	118722073	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:118722073C>T	uc001pwk.1	-	c.164G>A	c.(163-165)CGT>CAT	p.R55H	MFRP_uc001pwj.1_Non-coding_Transcript	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	81	Collagen-like.					collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)												0.375	8.923441	9.033019	3	5	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	Missense_Mutation	SNP	118722073	118722073	9916	11	C	T	T	19	19	MFRP	T	1	1
USP47	55031	broad.mit.edu	36	11	11920475	11920475	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:11920475C>T	uc001mjs.1	+	c.2331C>T	c.(2329-2331)TCC>TCT	p.S777S	USP47_uc001mjr.1_Silent_p.S709S|USP47_uc001mjq.1_Silent_p.S797S|USP47_uc001mjt.1_Silent_p.S83S	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	797					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of gene-specific transcription|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	specific transcriptional repressor activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2														0.330909	278.880724	285.824169	91	184	CC		KEEP	---	---	---	---	capture		Epithelial(150;0.000339)	Silent	SNP	11920475	11920475	17642	11	C	T	T	23	23	USP47	T	1	1
TECTA	7007	broad.mit.edu	36	11	120513493	120513493	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120513493C>T	uc001pxr.1	+	c.3095C>T	c.(3094-3096)ACG>ATG	p.T1032M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1032	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.320988	69.923293	72.228035	26	55	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Missense_Mutation	SNP	120513493	120513493	16274	11	C	T	T	19	19	TECTA	T	1	1
GRAMD1B	57476	broad.mit.edu	36	11	122953442	122953442	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:122953442G>A	uc001pyw.2	+	c.181G>A	c.(181-183)GTG>ATG	p.V61M	GRAMD1B_uc001pyx.2_Missense_Mutation_p.V61M|GRAMD1B_uc009zbe.1_Missense_Mutation_p.V57M	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	61						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)								1503		OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.6	19.152296	19.240041	6	4	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	Missense_Mutation	SNP	122953442	122953442	7024	11	G	A	A	40	40	GRAMD1B	A	1	1
FOXRED1	55572	broad.mit.edu	36	11	125651501	125651501	+	Missense_Mutation	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125651501A>G	uc001qdi.1	+	c.974A>G	c.(973-975)TAT>TGT	p.Y325C	FOXRED1_uc001qdj.1_Missense_Mutation_p.Y114C|FOXRED1_uc001qdk.1_Missense_Mutation_p.Y114C	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	325					oxidation-reduction process	integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)												0.166667	9.006038	16.113563	11	55	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	Missense_Mutation	SNP	125651501	125651501	6279	11	A	G	G	16	16	FOXRED1	G	4	4
KIRREL3	84623	broad.mit.edu	36	11	125799792	125799792	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125799792C>T	uc001qea.1	-	c.2230G>A	c.(2230-2232)GAC>AAC	p.D744N	KIRREL3_uc001qeb.1_Missense_Mutation_p.D732N|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3	744	Cytoplasmic (Potential).|Ser-rich.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)												0.361905	105.922241	107.683907	38	67	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	Missense_Mutation	SNP	125799792	125799792	8638	11	C	T	T	31	31	KIRREL3	T	1	1
TMEM45B	120224	broad.mit.edu	36	11	129230893	129230893	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129230893G>A	uc001qfe.1	+	c.466G>A	c.(466-468)GGA>AGA	p.G156R	TMEM45B_uc001qff.1_Missense_Mutation_p.G156R	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B	156	Helical; (Potential).					integral to membrane					0	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)												0.119403	23.21546	42.256241	16	118	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	Missense_Mutation	SNP	129230893	129230893	16709	11	G	A	A	39	39	TMEM45B	A	1	1
ST14	6768	broad.mit.edu	36	11	129565754	129565754	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129565754C>T	uc001qfw.1	+	c.830C>T	c.(829-831)ACG>ATG	p.T277M		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14	277	Extracellular (Potential).|CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			Urokinase(DB00013)									0.727273	25.803513	26.315216	8	3	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Missense_Mutation	SNP	129565754	129565754	15729	11	C	T	T	19	19	ST14	T	1	1
IGSF9B	22997	broad.mit.edu	36	11	133296182	133296182	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133296182G>A	uc001qgx.2	-	c.2648C>T	c.(2647-2649)ACG>ATG	p.T883M		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	883	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)												0.596774	113.275863	113.782582	37	25	GG		KEEP	---	---	---	---	capture		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	Missense_Mutation	SNP	133296182	133296182	7907	11	G	A	A	40	40	IGSF9B	A	1	1
IGSF9B	22997	broad.mit.edu	36	11	133319439	133319439	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:133319439G>A	uc001qgx.2	-	c.295C>T	c.(295-297)CGG>TGG	p.R99W	IGSF9B_uc001qgz.2_Non-coding_Transcript	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	99	Extracellular (Potential).|Ig-like 1.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)												0.782609	59.761677	61.45542	18	5	GG		KEEP	---	---	---	---	capture		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	Missense_Mutation	SNP	133319439	133319439	7907	11	G	A	A	38	38	IGSF9B	A	1	1
BRSK2	9024	broad.mit.edu	36	11	1423648	1423648	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:1423648C>T	uc001ltm.2	+	c.1299C>T	c.(1297-1299)AGC>AGT	p.S433S	BRSK2_uc009ycv.1_Silent_p.S387S|BRSK2_uc001lth.1_Silent_p.S387S|BRSK2_uc001lti.2_Silent_p.S387S|BRSK2_uc001ltj.1_Silent_p.S387S|BRSK2_uc001ltk.1_Non-coding_Transcript|BRSK2_uc001ltl.1_Silent_p.S387S|BRSK2_uc001ltn.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	387					establishment of cell polarity|neuron differentiation|protein phosphorylation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)								1394				0.346667	68.220859	69.780213	26	49	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	Silent	SNP	1423648	1423648	1555	11	C	T	T	27	27	BRSK2	T	1	1
INSC	387755	broad.mit.edu	36	11	15168923	15168923	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:15168923G>A	uc001mly.1	+	c.821G>A	c.(820-822)CGC>CAC	p.R274H	INSC_uc001mlz.1_Missense_Mutation_p.R227H|INSC_uc001mma.1_Missense_Mutation_p.R227H|INSC_uc001mmb.1_Missense_Mutation_p.R227H|INSC_uc001mmc.1_Missense_Mutation_p.R227H	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	274					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.439153	240.590108	241.20127	83	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15168923	15168923	8065	11	G	A	A	38	38	INSC	A	1	1
USH1C	10083	broad.mit.edu	36	11	17509370	17509370	+	Silent	SNP	G	A	A	rs34055234	unknown	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:17509370G>A	uc001mne.1	-	c.294C>T	c.(292-294)CTC>CTT	p.L98L	USH1C_uc001mnd.1_Silent_p.L62L|USH1C_uc001mnf.1_Silent_p.L98L|USH1C_uc009yhb.1_Silent_p.L98L|USH1C_uc001mng.1_Non-coding_Transcript	NM_153676	NP_710142	Q9Y6N9	USH1C_HUMAN	harmonin isoform b3	98	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1														0.344262	59.258072	60.564049	21	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	17509370	17509370	17596	11	G	A	A	37	37	USH1C	A	1	1
MRGPRX3	117195	broad.mit.edu	36	11	18115494	18115494	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18115494C>T	uc001mnu.1	+	c.169C>T	c.(169-171)CGC>TGC	p.R57C	MRGPRX3_uc009yhg.1_Missense_Mutation_p.R57C	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	57	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2														0.306748	131.189095	136.617217	50	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18115494	18115494	10161	11	C	T	T	27	27	MRGPRX3	T	1	1
SPTY2D1	144108	broad.mit.edu	36	11	18593463	18593463	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18593463C>T	uc001moy.1	-	c.934G>A	c.(934-936)GCT>ACT	p.A312T		NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	312	Ser-rich.									breast(1)	1														0.332298	316.913722	324.937474	107	215	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18593463	18593463	15640	11	C	T	T	28	28	SPTY2D1	T	2	2
TH	7054	broad.mit.edu	36	11	2147504	2147504	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:2147504C>T	uc001lvq.1	-	c.357G>A	c.(355-357)CCG>CCA	p.P119P	TH_uc001lvp.1_Silent_p.P115P|TH_uc001lvr.1_Silent_p.P88P|TH_uc001lvs.1_Silent_p.P88P|TH_uc001lvt.1_Silent_p.P92P|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	119					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|oxidation-reduction process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)			L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)									0.234043	49.445007	55.508169	22	72	CC		KEEP	---	---	---	---	capture	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	Silent	SNP	2147504	2147504	16366	11	C	T	T	31	31	TH	T	1	1
QSER1	79832	broad.mit.edu	36	11	32913502	32913502	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:32913502C>T	uc001mty.1	+	c.3735C>T	c.(3733-3735)AGC>AGT	p.S1245S	QSER1_uc001mtz.1_Silent_p.S1006S|QSER1_uc001mua.2_Silent_p.S750S	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1245										ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.330601	342.591824	351.879142	121	245	CC		KEEP	---	---	---	---	capture			Silent	SNP	32913502	32913502	13340	11	C	T	T	27	27	QSER1	T	1	1
CAPRIN1	4076	broad.mit.edu	36	11	34054582	34054582	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:34054582G>A	uc001mvh.1	+	c.590G>A	c.(589-591)CGG>CAG	p.R197Q	CAPRIN1_uc001mvi.1_Missense_Mutation_p.R197Q|CAPRIN1_uc001mvj.1_Missense_Mutation_p.R116Q|CAPRIN1_uc001mvg.1_Missense_Mutation_p.R197Q	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	197					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)												0.391111	274.953619	277.289118	88	137	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34054582	34054582	2754	11	G	A	A	39	39	CAPRIN1	A	1	1
SLC1A2	6506	broad.mit.edu	36	11	35284308	35284308	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:35284308C>T	uc001mwd.1	-	c.619G>A	c.(619-621)GCA>ACA	p.A207T	SLC1A2_uc001mwe.1_Missense_Mutation_p.A198T	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	207	Extracellular (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)			L-Glutamic Acid(DB00142)	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)						OREG0020883	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.328125	114.707786	118.059998	42	86	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(6;0.00731)		Missense_Mutation	SNP	35284308	35284308	14928	11	C	T	T	27	27	SLC1A2	T	1	1
NUP98	4928	broad.mit.edu	36	11	3663969	3663969	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:3663969G>A	uc001lyh.1	-	c.4486C>T	c.(4486-4488)CGA>TGA	p.R1496*	NUP98_uc001lyg.1_Nonsense_Mutation_p.R461*|NUP98_uc001lyi.1_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1513					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)								613				0.33945	105.746026	108.227805	37	72	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	Nonsense_Mutation	SNP	3663969	3663969	11178	11	G	A	A	37	37	NUP98	A	5	1
ALX4	60529	broad.mit.edu	36	11	44243026	44243026	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44243026C>T	uc001myb.1	-	c.1190G>A	c.(1189-1191)CGC>CAC	p.R397H		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	397	OAR.				hair follicle development		transcription regulator activity				0														0.469697	89.87438	89.920979	31	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44243026	44243026	561	11	C	T	T	27	27	ALX4	T	1	1
ALX4	60529	broad.mit.edu	36	11	44253479	44253479	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44253479C>T	uc001myb.1	-	c.772G>A	c.(772-774)GTG>ATG	p.V258M		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	258	Homeobox.				hair follicle development		transcription regulator activity				0														0.43299	120.830943	121.211478	42	55	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44253479	44253479	561	11	C	T	T	19	19	ALX4	T	1	1
OR8K3	219473	broad.mit.edu	36	11	55842718	55842718	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55842718C>T	uc001niq.1	+	c.360C>T	c.(358-360)TAC>TAT	p.Y120Y		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)													0.382883	244.423601	247.093071	85	137	CC		KEEP	---	---	---	---	capture			Silent	SNP	55842718	55842718	11655	11	C	T	T	19	19	OR8K3	T	1	1
OR5M9	390162	broad.mit.edu	36	11	55987141	55987141	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55987141C>T	uc001niv.1	-	c.313G>A	c.(313-315)GTT>ATT	p.V105I		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	105	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)													0.418033	151.403894	152.119183	51	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55987141	55987141	11587	11	C	T	T	19	19	OR5M9	T	1	1
OR9G4	283189	broad.mit.edu	36	11	56267233	56267233	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56267233C>T	uc001nje.1	-	c.631G>A	c.(631-633)GAA>AAA	p.E211K		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	211	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.26087	45.719299	49.290318	18	51	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56267233	56267233	11662	11	C	T	T	31	31	OR9G4	T	1	1
TNKS1BP1	85456	broad.mit.edu	36	11	56826200	56826200	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56826200C>T	uc001njr.1	-	c.4758G>A	c.(4756-4758)CCG>CCA	p.P1586P	TNKS1BP1_uc001njp.1_Silent_p.P158P|TNKS1BP1_uc001njq.1_Silent_p.P159P|TNKS1BP1_uc001njs.1_Silent_p.P1586P	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1586	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)												0.319588	83.8894	86.696111	31	66	CC		KEEP	---	---	---	---	capture			Silent	SNP	56826200	56826200	16861	11	C	T	T	23	23	TNKS1BP1	T	1	1
OR52N4	390072	broad.mit.edu	36	11	5733045	5733045	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5733045C>T	uc001mbu.1	+	c.499C>T	c.(499-501)CGC>TGC	p.R167C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)												0.294118	158.317318	166.057581	60	144	CC		KEEP	---	---	---	---	capture		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	Missense_Mutation	SNP	5733045	5733045	11539	11	C	T	T	28	28	OR52N4	T	2	2
TMEM109	79073	broad.mit.edu	36	11	60445953	60445953	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60445953C>T	uc001nqg.1	+	c.472C>T	c.(472-474)CGG>TGG	p.R158W	TMEM109_uc001nqh.1_Missense_Mutation_p.R158W|TMEM132A_uc001nqi.1_5'Flank|TMEM132A_uc001nqj.1_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109	158						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0														0.426966	217.802041	218.620381	76	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60445953	60445953	16555	11	C	T	T	27	27	TMEM109	T	1	1
PGA5	5222	broad.mit.edu	36	11	60773730	60773730	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60773730G>A	uc001nqz.1	+	c.787G>A	c.(787-789)GGA>AGA	p.G263R		NM_014224	NP_055039	P00790	PEPA_HUMAN	pepsinogen 5, group I	263					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity				0														0.25	154.322904	167.932085	60	180	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60773730	60773730	12195	11	G	A	A	39	39	PGA5	A	1	1
DAK	26007	broad.mit.edu	36	11	60862090	60862090	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60862090C>T	uc001nre.1	+	c.105C>T	c.(103-105)CGC>CGT	p.R35R	DAK_uc009ynm.1_5'UTR	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	35	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0														0.205674	60.613792	71.931737	29	112	CC		KEEP	---	---	---	---	capture			Silent	SNP	60862090	60862090	4395	11	C	T	T	27	27	DAK	T	1	1
TUT1	64852	broad.mit.edu	36	11	62102797	62102797	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62102797C>T	uc001nto.1	-	c.972G>A	c.(970-972)TCG>TCA	p.S324S	TUT1_uc001ntp.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	324					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2														0.343137	103.409975	105.619594	35	67	CC		KEEP	---	---	---	---	capture			Silent	SNP	62102797	62102797	17336	11	C	T	T	23	23	TUT1	T	1	1
TAF6L	10629	broad.mit.edu	36	11	62299903	62299903	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62299903G>A	uc001nvc.1	+	c.72G>A	c.(70-72)ACG>ACA	p.T24T	TAF6L_uc009yof.1_Silent_p.T24T	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	24					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|RNA polymerase II transcription factor activity|transcription coactivator activity|transcription initiation factor activity			ovary(3)	3														0.414634	102.62133	103.145866	34	48	GG		KEEP	---	---	---	---	capture			Silent	SNP	62299903	62299903	16052	11	G	A	A	39	39	TAF6L	A	1	1
CCKBR	887	broad.mit.edu	36	11	6237784	6237784	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6237784C>T	uc001mcs.2	+	c.50C>T	c.(49-51)CCG>CTG	p.P17L	CCKBR_uc001mcr.2_Missense_Mutation_p.P17L|CCKBR_uc001mcp.1_Missense_Mutation_p.P17L|CCKBR_uc001mcq.1_5'UTR	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	17	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception	integral to plasma membrane	1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			ovary(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			Pentagastrin(DB00183)									0.3125	14.268884	14.769783	5	11	CC		KEEP	---	---	---	---	capture		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Missense_Mutation	SNP	6237784	6237784	3006	11	C	T	T	23	23	CCKBR	T	1	1
MARK2	2011	broad.mit.edu	36	11	63428187	63428187	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63428187G>A	uc001nxw.1	+	c.1668G>A	c.(1666-1668)CCG>CCA	p.P556P	MARK2_uc001nxx.1_Intron|MARK2_uc001nxy.1_Intron|MARK2_uc001nxv.2_Intron|MARK2_uc001nxz.2_Silent_p.P522P|MARK2_uc001nya.2_Intron|MARK2_uc001nyb.1_Silent_p.P523P|MARK2_uc009yoy.1_Silent_p.P476P	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	556					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|protein phosphorylation|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2										218				0.4375	19.721934	19.77652	7	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	63428187	63428187	9696	11	G	A	A	38	38	MARK2	A	1	1
FLRT1	23769	broad.mit.edu	36	11	63641655	63641655	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63641655C>T	uc001nyi.1	+	c.1340C>T	c.(1339-1341)ACG>ATG	p.T447M	MACROD1_uc001nyh.1_Intron|FLRT1_uc009ypc.1_Missense_Mutation_p.T447M	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	419	Fibronectin type-III.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0														0.303571	43.653008	45.581892	17	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63641655	63641655	6180	11	C	T	T	19	19	FLRT1	T	1	1
PLCB3	5331	broad.mit.edu	36	11	63780587	63780587	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63780587C>T	uc001nzb.2	+	c.862C>T	c.(862-864)CGA>TGA	p.R288*	PLCB3_uc009ypg.1_Nonsense_Mutation_p.R288*|PLCB3_uc009yph.1_Nonsense_Mutation_p.R221*|PLCB3_uc009ypi.1_Nonsense_Mutation_p.R288*	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C, beta 3	288					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2														0.351648	179.684761	183.199773	64	118	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	63780587	63780587	12455	11	C	T	T	27	27	PLCB3	T	5	1
PLCB3	5331	broad.mit.edu	36	11	63783252	63783252	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:63783252C>T	uc001nzb.2	+	c.1485C>T	c.(1483-1485)AGC>AGT	p.S495S	PLCB3_uc009ypg.1_Silent_p.S495S|PLCB3_uc009yph.1_Silent_p.S428S|PLCB3_uc009ypi.1_Silent_p.S495S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C, beta 3	495					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2														0.6	18.253291	18.341812	6	4	CC		KEEP	---	---	---	---	capture			Silent	SNP	63783252	63783252	12455	11	C	T	T	27	27	PLCB3	T	1	1
NRXN2	9379	broad.mit.edu	36	11	64150576	64150576	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64150576G>A	uc001oar.1	-	c.3782C>T	c.(3781-3783)GCG>GTG	p.A1261V	NRXN2_uc001oas.1_Intron|NRXN2_uc001oao.1_5'Flank|NRXN2_uc001oap.1_Missense_Mutation_p.A215V|NRXN2_uc001oaq.1_Missense_Mutation_p.A928V	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	215	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.420382	194.32972	195.196279	66	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64150576	64150576	11071	11	G	A	A	38	38	NRXN2	A	1	1
MAP4K2	5871	broad.mit.edu	36	11	64316320	64316320	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64316320C>T	uc001obh.1	-	c.1814G>A	c.(1813-1815)CGG>CAG	p.R605Q	MAP4K2_uc001obg.1_Non-coding_Transcript|MAP4K2_uc001obi.1_Missense_Mutation_p.R597Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	605	CNH.				immune response|JNK cascade|protein phosphorylation|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2									p.R597Q(GP2D-Tumor)	392				0.333333	12.261808	12.634938	5	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64316320	64316320	9643	11	C	T	T	23	23	MAP4K2	T	1	1
TRIM3	10612	broad.mit.edu	36	11	6434672	6434672	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6434672G>A	uc001mdh.1	-	c.860C>T	c.(859-861)CCG>CTG	p.P287L	TRIM3_uc001mdi.1_Missense_Mutation_p.P287L|TRIM3_uc009yfd.1_Missense_Mutation_p.P287L|TRIM3_uc001mdj.2_Missense_Mutation_p.P168L	NM_006458	NP_150594	O75382	TRIM3_HUMAN	tripartite motif-containing 3	287					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)				Melanoma(6;5 510 1540 25169 29084)								0.342857	95.897742	98.174124	36	69	GG		KEEP	---	---	---	---	capture		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	6434672	6434672	17048	11	G	A	A	39	39	TRIM3	A	1	1
PPP2R5B	5526	broad.mit.edu	36	11	64455891	64455891	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64455891G>A	uc001oby.1	+	c.1091G>A	c.(1090-1092)CGC>CAC	p.R364H	PPP2R5B_uc001obz.1_Missense_Mutation_p.R364H	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	364					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2														0.503817	201.253219	201.254965	66	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64455891	64455891	12829	11	G	A	A	38	38	PPP2R5B	A	1	1
MRPL49	740	broad.mit.edu	36	11	64648620	64648620	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64648620G>A	uc001oda.1	+	c.149G>A	c.(148-150)CGC>CAC	p.R50H	FAU_uc001ocx.1_5'Flank|FAU_uc001ocy.1_5'Flank|MRPL49_uc001ocz.1_Non-coding_Transcript	NM_004927	NP_004918	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	50					translation	mitochondrion|ribosome	structural constituent of ribosome				0														0.384615	122.808731	124.185881	45	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64648620	64648620	10206	11	G	A	A	38	38	MRPL49	A	1	1
FRMD8	83786	broad.mit.edu	36	11	64929038	64929038	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64929038G>A	uc001odu.2	+	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	FRMD8_uc009yqj.1_Missense_Mutation_p.R344H	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	400						cytoskeleton	binding			lung(1)|pancreas(1)	2														0.346939	43.489804	44.489406	17	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64929038	64929038	6306	11	G	A	A	38	38	FRMD8	A	1	1
FRMD8	83786	broad.mit.edu	36	11	64935340	64935340	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:64935340G>A	uc001odu.2	+	c.1328G>A	c.(1327-1329)CGG>CAG	p.R443Q	FRMD8_uc009yqj.1_Missense_Mutation_p.R387Q	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	443						cytoskeleton	binding			lung(1)|pancreas(1)	2														0.382353	39.869299	40.281121	13	21	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64935340	64935340	6306	11	G	A	A	39	39	FRMD8	A	1	1
EHBP1L1	254102	broad.mit.edu	36	11	65104497	65104497	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65104497C>T	uc001oeo.2	+	c.605C>T	c.(604-606)CCG>CTG	p.P202L	EHBP1L1_uc009yqm.1_Missense_Mutation_p.P202L|EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	202										central_nervous_system(1)	1														0.376471	91.655225	92.763993	32	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65104497	65104497	5165	11	C	T	T	23	23	EHBP1L1	T	1	1
SIPA1	6494	broad.mit.edu	36	11	65165044	65165044	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65165044C>T	uc001ofb.1	+	c.76C>T	c.(76-78)CGC>TGC	p.R26C	SIPA1_uc009yqo.1_Missense_Mutation_p.R26C|SIPA1_uc009yqp.1_Missense_Mutation_p.R26C|SIPA1_uc001ofd.1_Missense_Mutation_p.R26C|SIPA1_uc009yqq.1_Missense_Mutation_p.R26C	NM_153253	NP_694985	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	26					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|nucleus|perinuclear region of cytoplasm	Rap GTPase activator activity				0														0.8	14.011409	14.421677	4	1	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65165044	65165044	14823	11	C	T	T	23	23	SIPA1	T	1	1
PACS1	55690	broad.mit.edu	36	11	65754983	65754983	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65754983C>T	uc001oha.1	+	c.1622C>T	c.(1621-1623)ACG>ATG	p.T541M		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	541					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6														0.27381	61.493463	65.362241	23	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65754983	65754983	11788	11	C	T	T	19	19	PACS1	T	1	1
TMEM151A	256472	broad.mit.edu	36	11	65819146	65819146	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65819146G>A	uc001ohl.1	+	c.853G>A	c.(853-855)GCC>ACC	p.A285T		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	285						integral to membrane				central_nervous_system(1)	1														0.227273	10.763044	12.265554	5	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65819146	65819146	16602	11	G	A	A	38	38	TMEM151A	A	1	1
ACTN3	89	broad.mit.edu	36	11	66086861	66086861	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66086861C>T	uc001oio.1	+	c.2407C>T	c.(2407-2409)CGC>TGC	p.R803C		NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	803	EF-hand 2.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0														0.283019	237.311611	250.763087	90	228	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66086861	66086861	207	11	C	T	T	31	31	ACTN3	T	1	1
CTSF	8722	broad.mit.edu	36	11	66088940	66088940	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66088940C>T	uc001oip.1	-	c.1159G>A	c.(1159-1161)GAG>AAG	p.E387K		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F	387					proteolysis	lysosome	cysteine-type endopeptidase activity				0														0.438503	248.424409	249.040367	82	105	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66088940	66088940	4193	11	C	T	T	31	31	CTSF	T	1	1
ADRBK1	156	broad.mit.edu	36	11	66807177	66807177	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66807177C>T	uc009yrn.1	+	c.1230C>T	c.(1228-1230)GCC>GCT	p.A410A	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	410	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1					Adenosine triphosphate(DB00171)					329				0.333333	201.561967	206.504711	67	134	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Silent	SNP	66807177	66807177	344	11	C	T	T	23	23	ADRBK1	T	1	1
ANKRD13D	338692	broad.mit.edu	36	11	66815689	66815689	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66815689G>A	uc001okd.1	+	c.437G>A	c.(436-438)CGC>CAC	p.R146H	ANKRD13D_uc001okc.1_Missense_Mutation_p.R59H|ANKRD13D_uc001oke.1_Missense_Mutation_p.R59H	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	59										ovary(1)	1														0.345588	129.494424	132.352619	47	89	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Missense_Mutation	SNP	66815689	66815689	647	11	G	A	A	38	38	ANKRD13D	A	1	1
PITPNM1	9600	broad.mit.edu	36	11	67022264	67022264	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67022264G>A	uc001olx.1	-	c.1590C>T	c.(1588-1590)GGC>GGT	p.G530G	PITPNM1_uc001olw.1_5'UTR|PITPNM1_uc001oly.1_Silent_p.G530G|PITPNM1_uc001olz.1_Silent_p.G530G	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	530					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GBM(28;144 709 4607 5525)								0.384615	39.712135	40.16833	15	24	GG		KEEP	---	---	---	---	capture			Silent	SNP	67022264	67022264	12374	11	G	A	A	38	38	PITPNM1	A	1	1
ALDH3B1	221	broad.mit.edu	36	11	67545637	67545637	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67545637G>A	uc001omz.1	+	c.670G>A	c.(670-672)GAC>AAC	p.D224N	ALDH3B1_uc001omx.1_Non-coding_Transcript|ALDH3B1_uc001ona.1_Missense_Mutation_p.D187N|ALDH3B1_uc001onb.1_Non-coding_Transcript	NM_000694	NP_000685	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	224					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process|oxidation-reduction process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)							OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.310502	180.32893	187.329099	68	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67545637	67545637	502	11	G	A	A	37	37	ALDH3B1	A	1	1
LRP5	4041	broad.mit.edu	36	11	67962646	67962646	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67962646C>T	uc001ont.1	+	c.4268C>T	c.(4267-4269)CCG>CTG	p.P1423L	LRP5_uc009ysg.1_Missense_Mutation_p.P833L	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1423	Cytoplasmic (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(1)|pancreas(1)	2														0.444444	87.997613	88.165927	28	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67962646	67962646	9333	11	C	T	T	23	23	LRP5	T	1	1
IGHMBP2	3508	broad.mit.edu	36	11	68432197	68432197	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:68432197G>A	uc001ook.1	+	c.265G>A	c.(265-267)GTG>ATG	p.V89M	IGHMBP2_uc001ooj.1_Non-coding_Transcript	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	89					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0														0.399381	376.260392	379.102773	129	194	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		Missense_Mutation	SNP	68432197	68432197	7892	11	G	A	A	40	40	IGHMBP2	A	1	1
FOLR3	2352	broad.mit.edu	36	11	71524729	71524729	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:71524729G>A	uc001orx.1	+	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	FOLR3_uc001ory.1_Missense_Mutation_p.R28Q	NM_000804	NP_000795	P41439	FOLR3_HUMAN	folate receptor 3 precursor	26					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)									0.242991	129.684711	142.589297	52	162	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71524729	71524729	6225	11	G	A	A	39	39	FOLR3	A	1	1
C2CD3	26005	broad.mit.edu	36	11	73467373	73467373	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:73467373G>A	uc001ouu.2	-	c.4038C>T	c.(4036-4038)GAC>GAT	p.D1346D	C2CD3_uc001out.2_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1346										ovary(3)|pancreas(2)	5	Breast(11;4.16e-06)													0.394737	85.834157	86.570968	30	46	GG		KEEP	---	---	---	---	capture			Silent	SNP	73467373	73467373	2237	11	G	A	A	40	40	C2CD3	A	1	1
SLCO2B1	11309	broad.mit.edu	36	11	74554626	74554626	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:74554626C>T	uc001owb.1	+	c.432C>T	c.(430-432)TAC>TAT	p.Y144Y	SLCO2B1_uc001owc.1_Silent_p.Y28Y|SLCO2B1_uc001owd.1_Silent_p.Y122Y	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	144	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)									0.37619	220.368503	223.195137	79	131	CC		KEEP	---	---	---	---	capture			Silent	SNP	74554626	74554626	15224	11	C	T	T	19	19	SLCO2B1	T	1	1
C11orf30	56946	broad.mit.edu	36	11	75904925	75904925	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:75904925G>A	uc001oxn.1	+	c.1608G>A	c.(1606-1608)ACG>ACA	p.T536T	C11orf30_uc001oxl.1_Silent_p.T535T|C11orf30_uc001oxm.1_Silent_p.T451T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	535	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6														0.370861	162.222783	164.449113	56	95	GG		KEEP	---	---	---	---	capture			Silent	SNP	75904925	75904925	1674	11	G	A	A	37	37	C11orf30	A	1	1
MYO7A	4647	broad.mit.edu	36	11	76602601	76602601	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:76602601G>A	uc001oyb.2	+	c.6487G>A	c.(6487-6489)GGC>AGC	p.G2163S	MYO7A_uc001oyc.2_Missense_Mutation_p.G2123S|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	2163	FERM 2.		G -> S (in USH1B).		actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.301676	153.587018	159.87048	54	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76602601	76602601	10477	11	G	A	A	39	39	MYO7A	A	1	1
USP35	57558	broad.mit.edu	36	11	77598825	77598825	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77598825G>A	uc009yva.1	+	c.2276G>A	c.(2275-2277)CGC>CAC	p.R759H	USP35_uc001oze.2_Missense_Mutation_p.R515H|USP35_uc001ozc.2_Missense_Mutation_p.R327H|USP35_uc001ozd.2_Missense_Mutation_p.R370H|USP35_uc001ozf.2_Missense_Mutation_p.R490H	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	759					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)													0.343434	91.719807	93.86349	34	65	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		Missense_Mutation	SNP	77598825	77598825	17630	11	G	A	A	38	38	USP35	A	1	1
GAB2	9846	broad.mit.edu	36	11	77638869	77638869	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:77638869C>T	uc001ozh.1	-	c.602G>A	c.(601-603)CGA>CAA	p.R201Q	GAB2_uc001ozg.1_Missense_Mutation_p.R163Q	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	201					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)													0.396783	436.635227	440.106656	148	225	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		Missense_Mutation	SNP	77638869	77638869	6400	11	C	T	T	31	31	GAB2	T	1	1
LRDD	55367	broad.mit.edu	36	11	790232	790232	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:790232G>A	uc001lro.1	-	c.2173C>T	c.(2173-2175)CGT>TGT	p.R725C	SLC25A22_uc009yci.1_5'Flank|SLC25A22_uc001lrj.1_5'Flank|LRDD_uc009yck.1_Non-coding_Transcript|LRDD_uc001lrk.1_Missense_Mutation_p.R708C|LRDD_uc001lrl.1_Missense_Mutation_p.R568C|LRDD_uc001lrm.1_Missense_Mutation_p.R412C|LRDD_uc001lrn.1_Missense_Mutation_p.R568C|LRDD_uc001lrp.1_Missense_Mutation_p.R370C	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	725					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)												0.378788	75.770743	76.617034	25	41	GG		KEEP	---	---	---	---	capture		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Missense_Mutation	SNP	790232	790232	9309	11	G	A	A	39	39	LRDD	A	1	1
GNPTAB	79158	broad.mit.edu	36	12	100682212	100682212	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:100682212C>T	uc001tit.1	-	c.2614G>A	c.(2614-2616)GTT>ATT	p.V872I		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	872					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)	1														0.279221	339.878985	360.130618	129	333	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100682212	100682212	6814	12	C	T	T	19	19	GNPTAB	T	1	1
ERC1	23085	broad.mit.edu	36	12	1007619	1007619	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:1007619C>T	uc001qjb.1	+	c.289C>T	c.(289-291)CGT>TGT	p.R97C	ERC1_uc001qiz.1_Missense_Mutation_p.R97C|ERC1_uc001qjc.1_Missense_Mutation_p.R97C|ERC1_uc001qja.1_Missense_Mutation_p.R97C|ERC1_uc001qjd.1_Missense_Mutation_p.R97C	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	97					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(1)	3	all_epithelial(11;0.0698)|Ovarian(42;0.107)									378				0.35625	157.194144	160.121611	57	103	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		Missense_Mutation	SNP	1007619	1007619	5403	12	C	T	T	19	19	ERC1	T	1	1
GLT8D2	83468	broad.mit.edu	36	12	102914654	102914654	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:102914654C>T	uc001tkh.1	-	c.589G>A	c.(589-591)GTG>ATG	p.V197M	GLT8D2_uc001tki.1_Missense_Mutation_p.V197M	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	197	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)	1														0.403226	142.325489	143.340429	50	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102914654	102914654	6738	12	C	T	T	19	19	GLT8D2	T	1	1
APPL2	55198	broad.mit.edu	36	12	104126076	104126076	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:104126076G>A	uc001tlf.1	-	c.405C>T	c.(403-405)CTC>CTT	p.L135L	APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.1_Silent_p.L92L	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	135	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding				0														0.369128	322.787338	327.26713	110	188	GG		KEEP	---	---	---	---	capture			Silent	SNP	104126076	104126076	829	12	G	A	A	37	37	APPL2	A	1	1
KLRK1	22914	broad.mit.edu	36	12	10423313	10423313	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:10423313C>T	uc009zhj.1	-	c.277G>A	c.(277-279)GAA>AAA	p.E93K	KLRK1_uc001qyb.1_Intron|KLRK1_uc001qyc.1_Missense_Mutation_p.E93K|KLRK1_uc009zhk.1_Missense_Mutation_p.E93K|KLRK1_uc001qyd.1_Missense_Mutation_p.E93K	NM_007360	NP_031386	P26718	NKG2D_HUMAN	NKG2-D type II integral membrane protein	93	Extracellular (Potential).				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding				0														0.257143	25.358383	27.229563	9	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10423313	10423313	8737	12	C	T	T	23	23	KLRK1	T	1	1
CKAP4	10970	broad.mit.edu	36	12	105157381	105157381	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:105157381G>A	uc001tlk.1	-	c.1360C>T	c.(1360-1362)CGC>TGC	p.R454C		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	454	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0														0.361702	91.646458	93.219022	34	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105157381	105157381	3580	12	G	A	A	38	38	CKAP4	A	1	1
SART3	9733	broad.mit.edu	36	12	107444126	107444126	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107444126G>A	uc001tmz.1	-	c.2250C>T	c.(2248-2250)TAC>TAT	p.Y750Y	SART3_uc009zux.1_Silent_p.Y362Y|SART3_uc001tmy.1_Silent_p.Y276Y	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	750	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1														0.316514	185.90918	192.429553	69	149	GG		KEEP	---	---	---	---	capture			Silent	SNP	107444126	107444126	14328	12	G	A	A	40	40	SART3	A	1	1
SVOP	55530	broad.mit.edu	36	12	107856804	107856804	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:107856804G>A	uc001tnt.1	-	c.825C>T	c.(823-825)ATC>ATT	p.I275I		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	SV2 related protein	275	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0														0.287823	207.138543	218.080089	78	193	GG		KEEP	---	---	---	---	capture			Silent	SNP	107856804	107856804	15943	12	G	A	A	37	37	SVOP	A	1	1
ACACB	32	broad.mit.edu	36	12	108131446	108131446	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108131446C>T	uc001tob.1	+	c.3154C>T	c.(3154-3156)CGC>TGC	p.R1052C	ACACB_uc001toc.1_Missense_Mutation_p.R1052C	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1052					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.423077	27.410564	27.546079	11	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108131446	108131446	108	12	C	T	T	23	23	ACACB	T	1	1
ACACB	32	broad.mit.edu	36	12	108144726	108144726	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108144726C>T	uc001tob.1	+	c.3596C>T	c.(3595-3597)TCG>TTG	p.S1199L	ACACB_uc001toc.1_Missense_Mutation_p.S1199L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1199					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.361111	109.599538	111.431229	39	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108144726	108144726	108	12	C	T	T	31	31	ACACB	T	1	1
MYO1H	283446	broad.mit.edu	36	12	108310978	108310978	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108310978C>T	uc009zvh.1	+	c.72C>T	c.(70-72)AGC>AGT	p.S24S		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.374359	399.035608	404.446751	146	244	CC		KEEP	---	---	---	---	capture			Silent	SNP	108310978	108310978	10470	12	C	T	T	27	27	MYO1H	T	1	1
KCTD10	83892	broad.mit.edu	36	12	108373916	108373916	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108373916G>A	uc001toj.1	-	c.836C>T	c.(835-837)GCG>GTG	p.A279V	KCTD10_uc001toi.1_Missense_Mutation_p.A270V|KCTD10_uc001tok.1_Missense_Mutation_p.A89V|KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.A244V	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	270					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0														0.314815	42.819718	44.488883	17	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108373916	108373916	8403	12	G	A	A	38	38	KCTD10	A	1	1
UBE3B	89910	broad.mit.edu	36	12	108420047	108420047	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108420047C>T	uc001top.1	+	c.755C>T	c.(754-756)CCG>CTG	p.P252L	UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.P252L|UBE3B_uc001toq.1_Missense_Mutation_p.P252L	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	252					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)	2										668				0.271318	97.069613	103.15203	35	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108420047	108420047	17438	12	C	T	T	23	23	UBE3B	T	1	1
UBE3B	89910	broad.mit.edu	36	12	108455721	108455721	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108455721G>A	uc001top.1	+	c.2990G>A	c.(2989-2991)CGC>CAC	p.R997H	UBE3B_uc001toq.1_Missense_Mutation_p.R997H|UBE3B_uc001tos.1_Missense_Mutation_p.R424H|UBE3B_uc001tot.1_Missense_Mutation_p.R115H	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	997	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)	2										668				0.439024	203.858028	204.392099	72	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108455721	108455721	17438	12	G	A	A	38	38	UBE3B	A	1	1
CUX2	23316	broad.mit.edu	36	12	110260478	110260478	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110260478C>T	uc001tsa.1	+	c.3202C>T	c.(3202-3204)CGG>TGG	p.R1068W		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1068	CUT 3.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.317757	91.211439	94.371006	34	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110260478	110260478	4225	12	C	T	T	27	27	CUX2	T	1	1
ALDH2	217	broad.mit.edu	36	12	110714814	110714814	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110714814G>A	uc001tst.1	+	c.928G>A	c.(928-930)GCC>ACC	p.A310T	ALDH2_uc009zvy.1_Missense_Mutation_p.A234T	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	310					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|electron carrier activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)									0.459459	47.778079	47.829722	17	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110714814	110714814	499	12	G	A	A	38	38	ALDH2	A	1	1
RASAL1	8437	broad.mit.edu	36	12	112027978	112027978	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112027978G>A	uc001tun.1	-	c.1757C>T	c.(1756-1758)ACG>ATG	p.T586M	RASAL1_uc001tul.2_Missense_Mutation_p.T584M|RASAL1_uc001tum.1_Missense_Mutation_p.T584M|RASAL1_uc001tuo.2_Missense_Mutation_p.T585M	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	584	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(1)	3														0.412698	151.406087	152.236123	52	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112027978	112027978	13524	12	G	A	A	40	40	RASAL1	A	1	1
PLBD2	196463	broad.mit.edu	36	12	112307075	112307075	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112307075G>A	uc001tve.1	+	c.1155G>A	c.(1153-1155)GCG>GCA	p.A385A	PLBD2_uc001tvf.1_Intron	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	mannose-6-phosphate protein p76	385					lipid catabolic process	lysosomal lumen	hydrolase activity				0														0.34	44.364124	45.493425	17	33	GG		KEEP	---	---	---	---	capture			Silent	SNP	112307075	112307075	12452	12	G	A	A	40	40	PLBD2	A	1	1
RBM19	9904	broad.mit.edu	36	12	112766938	112766938	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112766938G>A	uc009zwi.1	-	c.2703C>T	c.(2701-2703)TAC>TAT	p.Y901Y	RBM19_uc001tvm.1_Silent_p.Y901Y|RBM19_uc001tvn.2_Silent_p.Y901Y	NM_016196	NP_057280	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	901	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.355556	41.663841	42.500659	16	29	GG		KEEP	---	---	---	---	capture			Silent	SNP	112766938	112766938	13582	12	G	A	A	40	40	RBM19	A	1	1
RBM19	9904	broad.mit.edu	36	12	112884559	112884559	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112884559G>A	uc009zwi.1	-	c.80C>T	c.(79-81)ACG>ATG	p.T27M	RBM19_uc001tvm.1_Missense_Mutation_p.T27M|RBM19_uc001tvn.2_Missense_Mutation_p.T27M	NM_016196	NP_057280	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	27	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.38835	112.189809	113.309331	40	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112884559	112884559	13582	12	G	A	A	40	40	RBM19	A	1	1
IQSEC3	440073	broad.mit.edu	36	12	118334	118334	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118334C>T	uc001qhw.1	+	c.635C>T	c.(634-636)ACG>ATG	p.T212M	IQSEC3_uc001qhu.1_Missense_Mutation_p.T212M|IQSEC3_uc001qht.1_Missense_Mutation_p.T297M	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	515					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)	3	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)													0.3125	13.070208	13.570428	5	11	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	Missense_Mutation	SNP	118334	118334	8122	12	C	T	T	19	19	IQSEC3	T	1	1
MSI1	4440	broad.mit.edu	36	12	119268428	119268428	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:119268428C>T	uc001tye.1	-	c.940G>A	c.(940-942)GGC>AGC	p.G314S		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	314					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.538462	22.125668	22.142368	7	6	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119268428	119268428	10268	12	C	T	T	23	23	MSI1	T	1	1
DIABLO	56616	broad.mit.edu	36	12	121259054	121259054	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121259054C>T	uc001uca.1	-	c.547G>A	c.(547-549)GCC>ACC	p.A183T	DIABLO_uc001ubz.1_Missense_Mutation_p.A130T|DIABLO_uc001ucb.1_Missense_Mutation_p.A139T|VPS33A_uc001ucc.1_Non-coding_Transcript	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	diablo isoform 1 precursor	183					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)									98				0.235294	27.979967	31.244452	12	39	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	Missense_Mutation	SNP	121259054	121259054	4696	12	C	T	T	27	27	DIABLO	T	1	1
HIP1R	9026	broad.mit.edu	36	12	121904572	121904572	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:121904572G>A	uc001udj.1	+	c.607G>A	c.(607-609)GTA>ATA	p.V203I	HIP1R_uc001udg.1_Missense_Mutation_p.V191I|HIP1R_uc001udi.1_Missense_Mutation_p.V203I|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	203					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)													0.395349	240.721385	242.783898	85	130	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	Missense_Mutation	SNP	121904572	121904572	7400	12	G	A	A	40	40	HIP1R	A	1	1
ATP6V0A2	23545	broad.mit.edu	36	12	122778294	122778294	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122778294G>A	uc001ufr.1	+	c.533G>A	c.(532-534)GGC>GAC	p.G178D	ATP6V0A2_uc001ufq.1_Missense_Mutation_p.G178D	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	178	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.397436	176.013171	177.44865	62	94	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	Missense_Mutation	SNP	122778294	122778294	1188	12	G	A	A	42	42	ATP6V0A2	A	2	2
DNAH10	196385	broad.mit.edu	36	12	122891948	122891948	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122891948G>A	uc001uft.2	+	c.4909G>A	c.(4909-4911)GTG>ATG	p.V1637M		NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	1637	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.496933	248.271574	248.2729	81	82	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122891948	122891948	4780	12	G	A	A	40	40	DNAH10	A	1	1
DNAH10	196385	broad.mit.edu	36	12	122907723	122907723	+	Silent	SNP	C	T	T	rs34524265	by-frequency	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122907723C>T	uc001uft.2	+	c.6252C>T	c.(6250-6252)AAC>AAT	p.N2084N		NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	2084	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.409091	81.415808	81.891398	27	39	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Silent	SNP	122907723	122907723	4780	12	C	T	T	19	19	DNAH10	T	1	1
DNAH10	196385	broad.mit.edu	36	12	122949165	122949165	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:122949165G>A	uc001uft.2	+	c.9137G>A	c.(9136-9138)CGT>CAT	p.R3046H		NM_001083900	NP_001077369	Q8IVF4	DYH10_HUMAN	DNAH10 variant protein (Fragment).	3046	Potential.|Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.454545	15.674137	15.693879	5	6	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	Missense_Mutation	SNP	122949165	122949165	4780	12	G	A	A	40	40	DNAH10	A	1	1
DHX37	57647	broad.mit.edu	36	12	124000720	124000720	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:124000720G>A	uc001ugy.1	-	c.3144C>T	c.(3142-3144)CCC>CCT	p.P1048P	DHX37_uc001ugz.1_Silent_p.P135P	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1048							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.327869	52.367471	53.976459	20	41	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	Silent	SNP	124000720	124000720	4689	12	G	A	A	39	39	DHX37	A	1	1
DHX37	57647	broad.mit.edu	36	12	124007296	124007296	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:124007296G>A	uc001ugy.1	-	c.2347C>T	c.(2347-2349)CGC>TGC	p.R783C		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	783							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.310127	129.586192	134.625069	49	109	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	Missense_Mutation	SNP	124007296	124007296	4689	12	G	A	A	39	39	DHX37	A	1	1
DDX47	51202	broad.mit.edu	36	12	12870241	12870241	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12870241G>A	uc001rav.1	+	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	DDX47_uc001rax.1_Missense_Mutation_p.R359H|DDX47_uc001ray.1_Missense_Mutation_p.R310H	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	359	Helicase C-terminal.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)												0.411765	81.78751	82.24981	28	40	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;0.0354)	Missense_Mutation	SNP	12870241	12870241	4536	12	G	A	A	38	38	DDX47	A	1	1
RAN	5901	broad.mit.edu	36	12	129926271	129926271	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129926271C>T	uc001uis.1	+	c.657C>T	c.(655-657)CAC>CAT	p.H219H	RAN_uc001uir.1_Silent_p.H199H	NM_006325	NP_006316	P62826	RAN_HUMAN	ras-related nuclear protein	199					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)												0.301587	150.608379	157.249546	57	132	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)	Silent	SNP	129926271	129926271	13484	12	C	T	T	19	19	RAN	T	1	1
EP400	57634	broad.mit.edu	36	12	131074425	131074425	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131074425C>T	uc001ujn.1	+	c.4841C>T	c.(4840-4842)CCG>CTG	p.P1614L	EP400_uc001ujl.1_Missense_Mutation_p.P1613L|EP400_uc001ujm.1_Missense_Mutation_p.P1533L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1650					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.342857	32.689922	33.453198	12	23	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Missense_Mutation	SNP	131074425	131074425	5342	12	C	T	T	23	23	EP400	T	1	1
EP400	57634	broad.mit.edu	36	12	131128029	131128029	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131128029C>T	uc001ujn.1	+	c.9230C>T	c.(9229-9231)GCG>GTG	p.A3077V	EP400_uc001ujl.1_Missense_Mutation_p.A3076V|EP400_uc001ujp.1_Missense_Mutation_p.A287V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	3113					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)												0.328125	57.256748	58.931372	21	43	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	Missense_Mutation	SNP	131128029	131128029	5342	12	C	T	T	27	27	EP400	T	1	1
PGAM5	192111	broad.mit.edu	36	12	131804756	131804756	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:131804756C>T	uc009zyv.1	+	c.696C>T	c.(694-696)AAC>AAT	p.N232N	PGAM5_uc001uku.1_Silent_p.N232N|PGAM5_uc001ukw.2_Silent_p.N82N	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	232						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)													0.455556	118.762394	118.917246	41	49	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)	Silent	SNP	131804756	131804756	12199	12	C	T	T	19	19	PGAM5	T	1	1
GRIN2B	2904	broad.mit.edu	36	12	13608100	13608100	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13608100C>T	uc001rbt.2	-	c.3339G>A	c.(3337-3339)CCG>CCA	p.P1113P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1113	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.284211	62.870153	66.854191	27	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	13608100	13608100	7059	12	C	T	T	27	27	GRIN2B	T	1	1
ATF7IP	55729	broad.mit.edu	36	12	14468540	14468540	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:14468540G>A	uc001rbw.1	+	c.424G>A	c.(424-426)GGA>AGA	p.G142R	ATF7IP_uc001rbu.2_Missense_Mutation_p.G142R|ATF7IP_uc001rbv.1_Missense_Mutation_p.G142R|ATF7IP_uc001rbx.1_Missense_Mutation_p.G142R|ATF7IP_uc001rby.2_Missense_Mutation_p.G142R|ATF7IP_uc001rbz.1_Missense_Mutation_p.G142R|ATF7IP_uc001rca.1_Missense_Mutation_p.G142R|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	142					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5														0.320513	68.347873	70.580067	25	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14468540	14468540	1106	12	G	A	A	39	39	ATF7IP	A	1	1
PTPRO	5800	broad.mit.edu	36	12	15639221	15639221	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:15639221C>T	uc001rcv.1	+	c.3630C>T	c.(3628-3630)TAC>TAT	p.Y1210Y	PTPRO_uc001rcw.1_Silent_p.Y1182Y|PTPRO_uc001rcx.1_Silent_p.Y399Y|PTPRO_uc001rcy.1_Silent_p.Y399Y|PTPRO_uc001rcz.1_Silent_p.Y371Y|PTPRO_uc001rda.1_Silent_p.Y371Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	1210	Cytoplasmic (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Hepatocellular(102;0.244)												0.333333	69.012518	70.765849	24	48	CC		KEEP	---	---	---	---	capture			Silent	SNP	15639221	15639221	13266	12	C	T	T	19	19	PTPRO	T	1	1
SLCO1B3	28234	broad.mit.edu	36	12	20905318	20905318	+	Missense_Mutation	SNP	T	A	A			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:20905318T>A	uc001rek.1	+	c.460T>A	c.(460-462)TCA>ACA	p.S154T	SLCO1B3_uc001rem.1_Missense_Mutation_p.S154T|LST-3TM12_uc001ren.1_Intron|SLCO1B3_uc001rel.1_Missense_Mutation_p.S154T|SLCO1B3_uc001reo.1_5'Flank	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	154	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)	3	Esophageal squamous(101;0.149)													0.337079	88.322161	90.411896	30	59	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20905318	20905318	15221	12	T	A	A	50	50	SLCO1B3	A	4	4
C12orf11	55726	broad.mit.edu	36	12	26968675	26968675	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:26968675C>T	uc001rhk.2	-	c.684G>A	c.(682-684)CCG>CCA	p.P228P		NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	228					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)													0.383459	155.703519	157.283787	51	82	CC		KEEP	---	---	---	---	capture			Silent	SNP	26968675	26968675	1719	12	C	T	T	23	23	C12orf11	T	1	1
TM7SF3	51768	broad.mit.edu	36	12	27034697	27034697	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27034697G>A	uc001rho.1	-	c.821C>T	c.(820-822)ACA>ATA	p.T274I		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	274						integral to membrane|plasma membrane					0	Colorectal(261;0.0847)													0.357143	120.707854	122.985971	45	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27034697	27034697	16505	12	G	A	A	48	48	TM7SF3	A	2	2
C12orf71	728858	broad.mit.edu	36	12	27126237	27126237	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27126237G>A	uc001rhq.1	-	c.447C>T	c.(445-447)GAC>GAT	p.D149D		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	hypothetical protein LOC728858	149											0														0.333333	22.592218	23.182524	8	16	GG		KEEP	---	---	---	---	capture			Silent	SNP	27126237	27126237	1757	12	G	A	A	40	40	C12orf71	A	1	1
FOXM1	2305	broad.mit.edu	36	12	2848070	2848070	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2848070G>A	uc001qle.1	-	c.766C>T	c.(766-768)CGC>TGC	p.R256C	FOXM1_uc001qlf.1_Missense_Mutation_p.R256C|FOXM1_uc001qlg.1_Missense_Mutation_p.R256C|FOXM1_uc009zea.1_Missense_Mutation_p.R255C|FOXM1_uc009zeb.1_Missense_Mutation_p.R255C	NM_202002	NP_973731	Q08050	FOXM1_HUMAN	forkhead box M1 isoform 1	256	Fork-head.				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of stress-activated MAPK cascade|pattern specification process|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|skin(1)	2														0.337079	240.353981	246.629202	90	177	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		Missense_Mutation	SNP	2848070	2848070	6264	12	G	A	A	38	38	FOXM1	A	1	1
C12orf72	254013	broad.mit.edu	36	12	31711963	31711963	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:31711963C>T	uc009zjr.1	+	c.561C>T	c.(559-561)GGC>GGT	p.G187G	C12orf72_uc001rkl.1_Silent_p.G187G|C12orf72_uc001rkm.1_Silent_p.G187G	NM_173802	NP_776163	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	187						cytoplasm	protein methyltransferase activity				0														0.361111	110.494717	112.328615	39	69	CC		KEEP	---	---	---	---	capture			Silent	SNP	31711963	31711963	1758	12	C	T	T	27	27	C12orf72	T	1	1
AMN1	196394	broad.mit.edu	36	12	31742075	31742075	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:31742075C>T	uc001rkq.2	-	c.400G>A	c.(400-402)GTT>ATT	p.V134I	AMN1_uc001rko.2_Missense_Mutation_p.V116I|AMN1_uc001rkp.2_Missense_Mutation_p.V116I|AMN1_uc009zjs.1_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog	134											0	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)													0.45679	114.070086	114.201207	37	44	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0014)		Missense_Mutation	SNP	31742075	31742075	584	12	C	T	T	19	19	AMN1	T	1	1
C12orf35	55196	broad.mit.edu	36	12	32025397	32025397	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32025397G>A	uc001rks.1	+	c.241G>A	c.(241-243)GGG>AGG	p.G81R		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	81										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)													0.316456	142.888271	147.624539	50	108	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		Missense_Mutation	SNP	32025397	32025397	1726	12	G	A	A	47	47	C12orf35	A	2	2
FGF23	8074	broad.mit.edu	36	12	4349972	4349972	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4349972G>A	uc001qmq.1	-	c.554C>T	c.(553-555)TCG>TTG	p.S185L		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	185					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|skin(1)	3														0.347826	68.18482	69.592489	24	45	GG		KEEP	---	---	---	---	capture	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		Missense_Mutation	SNP	4349972	4349972	6089	12	G	A	A	37	37	FGF23	A	1	1
SLC38A4	55089	broad.mit.edu	36	12	45458552	45458552	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:45458552C>T	uc001rpi.1	-	c.992G>A	c.(991-993)CGG>CAG	p.R331Q	SLC38A4_uc001rpj.1_Missense_Mutation_p.R331Q	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	331	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.192)|Renal(347;0.236)													0.314286	99.637828	102.859638	33	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45458552	45458552	15103	12	C	T	T	23	23	SLC38A4	T	1	1
COL2A1	1280	broad.mit.edu	36	12	46654339	46654339	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:46654339C>T	uc001rqu.1	-	c.4117G>A	c.(4117-4119)GTC>ATC	p.V1373I	COL2A1_uc009zkw.1_Non-coding_Transcript|COL2A1_uc001rqv.1_Missense_Mutation_p.V1304I|COL2A1_uc001rqt.1_Missense_Mutation_p.V154I	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1373	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	extracellular matrix structural constituent conferring tensile strength|identical protein binding|platelet-derived growth factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)									0.483333	88.60742	88.619701	29	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46654339	46654339	3825	12	C	T	T	19	19	COL2A1	T	1	1
GALNT8	26290	broad.mit.edu	36	12	4706245	4706245	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:4706245G>A	uc001qne.1	+	c.498G>A	c.(496-498)ACG>ACA	p.T166T		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	166	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|pancreas(1)	2						Colon(108;631 1558 7270 20097 39846)								0.333333	85.965963	88.328642	32	64	GG		KEEP	---	---	---	---	capture			Silent	SNP	4706245	4706245	6483	12	G	A	A	38	38	GALNT8	A	1	1
MLL2	8085	broad.mit.edu	36	12	47734130	47734130	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47734130G>A	uc001rta.2	-	c.571C>T	c.(571-573)CGG>TGG	p.R191W		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	191					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29														0.357143	25.922783	26.433994	10	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47734130	47734130	10011	12	G	A	A	40	40	MLL2	A	1	1
MCRS1	10445	broad.mit.edu	36	12	48246215	48246215	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48246215G>A	uc001rui.1	-	c.100C>T	c.(100-102)CGC>TGC	p.R34C	MCRS1_uc001ruj.1_Missense_Mutation_p.R8C|MCRS1_uc001ruk.1_Missense_Mutation_p.R21C|MCRS1_uc001rul.1_Missense_Mutation_p.R21C|MCRS1_uc009zlj.1_Intron|MCRS1_uc001rum.1_Missense_Mutation_p.R8C|MCRS1_uc001run.1_Missense_Mutation_p.R21C	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 2	21	Ser-rich.				protein modification process	cytoplasm|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1														0.390977	155.98396	157.363616	52	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48246215	48246215	9788	12	G	A	A	39	39	MCRS1	A	1	1
NCKAP5L	57701	broad.mit.edu	36	12	48474974	48474974	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48474974C>T	uc009zlk.1	-	c.2936G>A	c.(2935-2937)CGT>CAT	p.R979H	NCKAP5L_uc001rvb.2_Missense_Mutation_p.R572H|NCKAP5L_uc001rvc.2_Missense_Mutation_p.R183H	NM_020941	NP_065992	Q9HCH0	NCK5L_HUMAN	Uncharacterized protein KIAA1602.	975	Potential.										0														0.307692	10.495698	10.923986	4	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48474974	48474974	10623	12	C	T	T	19	19	NCKAP5L	T	1	1
RACGAP1	29127	broad.mit.edu	36	12	48679239	48679239	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48679239C>T	uc001rvt.2	-	c.831G>A	c.(829-831)ACG>ACA	p.T277T	RACGAP1_uc009zlm.1_Silent_p.T277T|RACGAP1_uc001rvs.2_Silent_p.T277T|RACGAP1_uc001rvu.2_Silent_p.T277T	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	277	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1														0.39823	126.644354	127.670159	45	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	48679239	48679239	13436	12	C	T	T	27	27	RACGAP1	T	1	1
GPD1	2819	broad.mit.edu	36	12	48787719	48787719	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:48787719G>A	uc001rvz.1	+	c.715G>A	c.(715-717)GCC>ACC	p.A239T	GPD1_uc001rwa.1_Missense_Mutation_p.A216T	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	239					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	NSCLC(141;1402 1905 9497 13391 44868)								0.42029	327.841543	329.372597	116	160	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48787719	48787719	6878	12	G	A	A	38	38	GPD1	A	1	1
GALNT6	11226	broad.mit.edu	36	12	50044263	50044263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50044263G>A	uc001ryk.1	-	c.958C>T	c.(958-960)CGA>TGA	p.R320*	GALNT6_uc001ryl.1_Nonsense_Mutation_p.R320*|GALNT6_uc009zma.1_Non-coding_Transcript	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	320	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.378641	121.61687	122.941472	39	64	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	50044263	50044263	6481	12	G	A	A	39	39	GALNT6	A	5	1
C12orf44	60673	broad.mit.edu	36	12	50756993	50756993	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50756993C>T	uc001rzu.2	+	c.409C>T	c.(409-411)CGG>TGG	p.R137W	C12orf44_uc009zmd.1_Missense_Mutation_p.R137W	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	hypothetical protein LOC60673	137					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding				0														0.355932	56.753267	57.834205	21	38	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0978)	Missense_Mutation	SNP	50756993	50756993	1734	12	C	T	T	27	27	C12orf44	T	1	1
KRT7	3855	broad.mit.edu	36	12	50915372	50915372	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50915372C>T	uc001saa.1	+	c.491C>T	c.(490-492)GCG>GTG	p.A164V	KRT7_uc009zmf.1_Missense_Mutation_p.A164V	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	164	Rod.|Coil 1B.			A -> Q (in Ref. 1; CAA26956, 2; CAA31695 and 3; CAB41416).	cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0														0.308642	67.946004	70.588714	25	56	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.105)	Missense_Mutation	SNP	50915372	50915372	8798	12	C	T	T	27	27	KRT7	T	1	1
KRT83	3889	broad.mit.edu	36	12	50997999	50997999	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:50997999G>A	uc001saf.2	-	c.616C>T	c.(616-618)CGA>TGA	p.R206*		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	206	Rod.|Coil 1B.				epidermis development	keratin filament	structural molecule activity				0	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)								0.329588	243.343353	250.199286	88	179	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.189)	Nonsense_Mutation	SNP	50997999	50997999	8812	12	G	A	A	37	37	KRT83	A	5	1
KRT85	3891	broad.mit.edu	36	12	51047242	51047242	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51047242C>T	uc001sag.1	-	c.215G>A	c.(214-216)CGA>CAA	p.R72Q		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	72	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)													0.338235	63.32295	64.88732	23	45	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.189)	Missense_Mutation	SNP	51047242	51047242	8814	12	C	T	T	31	31	KRT85	T	1	1
SOAT2	8435	broad.mit.edu	36	12	51803237	51803237	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51803237G>A	uc001sbv.1	+	c.1342G>A	c.(1342-1344)GTC>ATC	p.V448I	SOAT2_uc009zms.1_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	448	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|intestinal cholesterol absorption|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1														0.305085	96.356985	100.355565	36	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51803237	51803237	15411	12	G	A	A	40	40	SOAT2	A	1	1
SP1	6667	broad.mit.edu	36	12	52062812	52062812	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52062812G>A	uc001scw.1	+	c.814G>A	c.(814-816)GTT>ATT	p.V272I		NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	272	Transactivation domain B (Gln-rich).|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter, global	cytoplasm|nucleus	double-stranded DNA binding|histone deacetylase binding|promoter binding|protein C-terminus binding|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3										103				0.388	277.944677	280.682458	97	153	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.00527)	Missense_Mutation	SNP	52062812	52062812	15459	12	G	A	A	40	40	SP1	A	1	1
MAP3K12	7786	broad.mit.edu	36	12	52162239	52162239	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52162239C>T	uc001sdn.1	-	c.2333G>A	c.(2332-2334)CGC>CAC	p.R778H	MAP3K12_uc001sdm.1_Missense_Mutation_p.R745H	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	745					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)	4										178		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.289017	121.848729	128.774946	50	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52162239	52162239	9629	12	C	T	T	27	27	MAP3K12	T	1	1
NCKAP1L	3071	broad.mit.edu	36	12	53203575	53203575	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53203575G>A	uc001sgc.2	+	c.2009G>A	c.(2008-2010)CGC>CAC	p.R670H		NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	670					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4														0.321429	96.158362	99.331677	36	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53203575	53203575	10621	12	G	A	A	38	38	NCKAP1L	A	1	1
B4GALNT3	283358	broad.mit.edu	36	12	533372	533372	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:533372G>A	uc001qii.1	+	c.2022G>A	c.(2020-2022)ACG>ACA	p.T674T	B4GALNT3_uc001qij.1_Silent_p.T577T|B4GALNT3_uc001qik.1_Silent_p.T223T	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	674	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity				0	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)													0.347107	114.244688	116.727164	42	79	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		Silent	SNP	533372	533372	1289	12	G	A	A	38	38	B4GALNT3	A	1	1
PAN2	9924	broad.mit.edu	36	12	55004736	55004736	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55004736G>A	uc001skx.2	-	c.1624C>T	c.(1624-1626)CGC>TGC	p.R542C	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.R542C|PAN2_uc001sky.2_Missense_Mutation_p.R542C	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	542					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|large_intestine(1)|skin(1)	4														0.407895	89.210935	89.77405	31	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55004736	55004736	11831	12	G	A	A	40	40	PAN2	A	1	1
BAZ2A	11176	broad.mit.edu	36	12	55279339	55279339	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55279339G>A	uc001slq.1	-	c.5249C>T	c.(5248-5250)TCG>TTG	p.S1750L	BAZ2A_uc001slo.1_Missense_Mutation_p.S556L|BAZ2A_uc009zov.1_Missense_Mutation_p.S716L|BAZ2A_uc009zow.1_Missense_Mutation_p.S1718L|BAZ2A_uc001slp.1_Missense_Mutation_p.S1748L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1750					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|transcription regulator activity|zinc ion binding				0														0.580645	57.654744	57.830864	18	13	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55279339	55279339	1352	12	G	A	A	37	37	BAZ2A	A	1	1
ARHGAP9	64333	broad.mit.edu	36	12	56156943	56156943	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56156943G>A	uc001sod.1	-	c.1154C>T	c.(1153-1155)CCG>CTG	p.P385L	ARHGAP9_uc001sny.1_5'Flank|ARHGAP9_uc001snz.1_Missense_Mutation_p.P130L|ARHGAP9_uc001soa.1_5'UTR|ARHGAP9_uc001sob.1_Missense_Mutation_p.P314L|ARHGAP9_uc001soc.1_Missense_Mutation_p.P314L|ARHGAP9_uc001soe.1_Missense_Mutation_p.P393L	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	314					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1														0.424528	141.661722	142.187528	45	61	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;3.37e-34)		Missense_Mutation	SNP	56156943	56156943	903	12	G	A	A	39	39	ARHGAP9	A	1	1
KIF5A	3798	broad.mit.edu	36	12	56258063	56258063	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56258063G>A	uc001sor.1	+	c.2366G>A	c.(2365-2367)CGG>CAG	p.R789Q		NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	789					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)	2														0.355705	153.286907	155.996767	53	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56258063	56258063	8616	12	G	A	A	39	39	KIF5A	A	1	1
AGAP2	116986	broad.mit.edu	36	12	56411416	56411416	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56411416G>A	uc001spq.1	-	c.2145C>T	c.(2143-2145)AAC>AAT	p.N715N	AGAP2_uc001spp.1_Silent_p.N715N|AGAP2_uc001spr.1_Silent_p.N379N	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	715	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5									p.N715N(5637-Tumor)	257				0.415094	199.139941	200.135513	66	93	GG		KEEP	---	---	---	---	capture			Silent	SNP	56411416	56411416	370	12	G	A	A	40	40	AGAP2	A	1	1
VWF	7450	broad.mit.edu	36	12	5998922	5998922	+	Missense_Mutation	SNP	C	T	T	rs61749388	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5998922C>T	uc001qnn.1	-	c.3923G>A	c.(3922-3924)CGC>CAC	p.R1308H		NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1308	VWFA 1; binding site for platelet glycoprotein Ib.		R -> C (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.41958	163.148558	163.960458	60	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5998922	5998922	17818	12	C	T	T	27	27	VWF	T	1	1
VWF	7450	broad.mit.edu	36	12	6008809	6008809	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6008809C>T	uc001qnn.1	-	c.2927G>A	c.(2926-2928)CGC>CAC	p.R976H		NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	976	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.282443	92.79229	98.320366	37	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6008809	6008809	17818	12	C	T	T	27	27	VWF	T	1	1
CD9	928	broad.mit.edu	36	12	6214725	6214725	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6214725C>T	uc001qnp.1	+	c.418C>T	c.(418-420)CGG>TGG	p.R140W	CD9_uc001qnq.1_Missense_Mutation_p.R140W	NM_001769	NP_001760	P21926	CD9_HUMAN	CD9 antigen	140	Extracellular (Potential).				cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				ovary(1)	1														0.423611	172.778436	173.47701	61	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6214725	6214725	3174	12	C	T	T	27	27	CD9	T	1	1
SRGAP1	57522	broad.mit.edu	36	12	62822603	62822603	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:62822603G>A	uc001sru.1	+	c.3142G>A	c.(3142-3144)GTG>ATG	p.V1048M	SRGAP1_uc001srv.1_Missense_Mutation_p.V985M	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1048					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4														0.465517	161.387015	161.500782	54	62	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	Missense_Mutation	SNP	62822603	62822603	15659	12	G	A	A	40	40	SRGAP1	A	1	1
LTBR	4055	broad.mit.edu	36	12	6364522	6364522	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6364522C>T	uc001qny.1	+	c.267C>T	c.(265-267)AAC>AAT	p.N89N	LTBR_uc001qnz.1_Silent_p.N84N	NM_002342	NP_002333	P36941	TNR3_HUMAN	lymphotoxin beta receptor	89	Extracellular (Potential).|TNFR-Cys 2.				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity				0										109				0.348039	194.661092	198.819822	71	133	CC		KEEP	---	---	---	---	capture			Silent	SNP	6364522	6364522	9453	12	C	T	T	19	19	LTBR	T	1	1
IL26	55801	broad.mit.edu	36	12	66881913	66881913	+	Silent	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:66881913T>C	uc001stx.1	-	c.495A>G	c.(493-495)AAA>AAG	p.K165K		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	165					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade	cytosol|extracellular space|soluble fraction	cytokine activity				0														0.368421	162.541967	164.565357	49	84	TT		KEEP	---	---	---	---	capture	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	Silent	SNP	66881913	66881913	7980	12	T	C	C	52	52	IL26	C	4	4
ATN1	1822	broad.mit.edu	36	12	6915587	6915587	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6915587C>T	uc001qrw.1	+	c.896C>T	c.(895-897)CCG>CTG	p.P299L	ATN1_uc001qrx.1_Missense_Mutation_p.P299L|ATN1_uc001qry.1_Missense_Mutation_p.P298L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	atrophin-1	299					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)	5														0.303371	70.886468	73.962411	27	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6915587	6915587	1130	12	C	T	T	23	23	ATN1	T	1	1
OSBPL8	114882	broad.mit.edu	36	12	75368818	75368818	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75368818G>A	uc001sye.1	-	c.161C>T	c.(160-162)ACG>ATG	p.T54M	OSBPL8_uc001syf.1_Missense_Mutation_p.T12M|OSBPL8_uc001syg.1_Missense_Mutation_p.T12M	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	54					lipid transport		lipid binding			ovary(1)	1														0.338983	55.282521	56.63464	20	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75368818	75368818	11694	12	G	A	A	40	40	OSBPL8	A	1	1
PPP1R12A	4659	broad.mit.edu	36	12	78738833	78738833	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:78738833C>T	uc001syz.1	-	c.966G>A	c.(964-966)ACG>ACA	p.T322T	PPP1R12A_uc001sza.1_Silent_p.T322T|PPP1R12A_uc001szb.1_Silent_p.T322T|PPP1R12A_uc001szc.1_Silent_p.T322T	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	322				T -> A (in Ref. 4; AAH92481).		contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7														0.333333	79.979075	82.041996	28	56	CC		KEEP	---	---	---	---	capture			Silent	SNP	78738833	78738833	12789	12	C	T	T	19	19	PPP1R12A	T	1	1
CCDC59	29080	broad.mit.edu	36	12	81275161	81275161	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:81275161C>T	uc001szp.2	-	c.173G>A	c.(172-174)CGA>CAA	p.R58Q	C12orf26_uc001szq.1_5'Flank	NM_014167	NP_054886	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0														0.365385	108.621391	110.279114	38	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81275161	81275161	2952	12	C	T	T	31	31	CCDC59	T	1	1
ALX1	8092	broad.mit.edu	36	12	84219226	84219226	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:84219226G>A	uc001tae.2	+	c.823G>A	c.(823-825)GTG>ATG	p.V275M		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	275					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2														0.313433	113.612207	117.757542	42	92	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.134)	Missense_Mutation	SNP	84219226	84219226	559	12	G	A	A	40	40	ALX1	A	1	1
AICDA	57379	broad.mit.edu	36	12	8649275	8649275	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:8649275C>T	uc001qur.1	-	c.230G>A	c.(229-231)CGC>CAC	p.R77H	AICDA_uc001qup.1_Missense_Mutation_p.R72H|AICDA_uc001quq.1_Missense_Mutation_p.R72H|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	77					B cell differentiation|mRNA processing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			pancreas(1)	1	Lung SC(5;0.184)					GBM(62;896 1067 5527 26594 30137)								0.415584	89.493489	89.970173	32	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8649275	8649275	425	12	C	T	T	27	27	AICDA	T	1	1
C12orf12	196477	broad.mit.edu	36	12	89872096	89872096	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:89872096C>T	uc001tbj.1	-	c.555G>A	c.(553-555)GCG>GCA	p.A185A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	185										central_nervous_system(1)|pancreas(1)	2														0.4	140.231285	141.32133	50	75	CC		KEEP	---	---	---	---	capture			Silent	SNP	89872096	89872096	1720	12	C	T	T	27	27	C12orf12	T	1	1
ERCC5	2073	broad.mit.edu	36	13	102312732	102312732	+	Missense_Mutation	SNP	C	T	T	rs2227872	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:102312732C>T	uc001vpu.1	+	c.2594C>T	c.(2593-2595)ACG>ATG	p.T865M	ERCC5_uc001vpw.1_Missense_Mutation_p.T411M	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	411					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|central_nervous_system(1)	5	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)									463				0.703704	121.367922	123.371596	38	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102312732	102312732	5409	13	C	T	T	19	19	ERCC5	T	1	1
COL4A2	1284	broad.mit.edu	36	13	109912692	109912692	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:109912692G>A	uc001vqx.1	+	c.1736G>A	c.(1735-1737)CGC>CAC	p.R579H		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	579	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)												0.361111	69.920367	71.14652	26	46	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		Missense_Mutation	SNP	109912692	109912692	3828	13	G	A	A	38	38	COL4A2	A	1	1
ATP11A	23250	broad.mit.edu	36	13	112578197	112578197	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112578197G>A	uc001vsj.2	+	c.3268G>A	c.(3268-3270)GAC>AAC	p.D1090N	ATP11A_uc001vsi.2_Missense_Mutation_p.D1090N|ATP11A_uc010ago.1_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform b	1090	Helical; (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			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)							p.D1090N(WSUDLCL2-Tumor)	1064				0.422535	83.931059	84.304058	30	41	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112578197	112578197	1138	13	G	A	A	37	37	ATP11A	A	1	1
MCF2L	23263	broad.mit.edu	36	13	112747662	112747662	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112747662G>A	uc001vsu.2	+	c.526G>A	c.(526-528)GTC>ATC	p.V176I	MCF2L_uc001vsq.2_Missense_Mutation_p.V176I|MCF2L_uc001vsr.2_Missense_Mutation_p.V123I|MCF2L_uc001vss.2_Missense_Mutation_p.V117I|MCF2L_uc001vst.1_Missense_Mutation_p.V81I	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	149	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)												0.347826	63.677099	65.088269	24	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112747662	112747662	9768	13	G	A	A	40	40	MCF2L	A	1	1
C13orf36	400120	broad.mit.edu	36	13	36167302	36167302	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36167302G>A	uc001uvt.2	+	c.87G>A	c.(85-87)ACG>ACA	p.T29T	C13orf36_uc010abs.1_Silent_p.T29T	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	29						integral to membrane					0														0.658915	273.25318	276.171795	85	44	GG		KEEP	---	---	---	---	capture			Silent	SNP	36167302	36167302	1777	13	G	A	A	40	40	C13orf36	A	1	1
CSNK1A1L	122011	broad.mit.edu	36	13	36577304	36577304	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36577304G>A	uc001uwm.1	-	c.90C>T	c.(88-90)GAC>GAT	p.D30D		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	30	ATP (By similarity).|Protein kinase.				protein phosphorylation|Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)								53				0.633333	176.361615	177.763965	57	33	GG		KEEP	---	---	---	---	capture		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	Silent	SNP	36577304	36577304	4092	13	G	A	A	40	40	CSNK1A1L	A	1	1
TRPC4	7223	broad.mit.edu	36	13	37164332	37164332	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:37164332G>A	uc010abx.1	-	c.1038C>T	c.(1036-1038)TGC>TGT	p.C346C	TRPC4_uc010abv.1_Intron|TRPC4_uc010abw.1_Silent_p.C173C|TRPC4_uc001uws.1_Silent_p.C346C|TRPC4_uc001uwt.1_Silent_p.C346C|TRPC4_uc010aby.1_Silent_p.C346C	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	346	Helical; (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4														0.588235	98.057283	98.403684	30	21	GG		KEEP	---	---	---	---	capture		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	Silent	SNP	37164332	37164332	17131	13	G	A	A	34	34	TRPC4	A	2	2
TRPC4	7223	broad.mit.edu	36	13	37218391	37218391	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:37218391G>A	uc010abx.1	-	c.580C>T	c.(580-582)CGC>TGC	p.R194C	TRPC4_uc010abv.1_De_novo_Start_InFrame|TRPC4_uc010abw.1_Intron|TRPC4_uc001uws.1_Missense_Mutation_p.R194C|TRPC4_uc001uwt.1_Missense_Mutation_p.R194C|TRPC4_uc010aby.1_Missense_Mutation_p.R194C	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	194	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4														0.697674	190.722113	193.722394	60	26	GG		KEEP	---	---	---	---	capture		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	Missense_Mutation	SNP	37218391	37218391	17131	13	G	A	A	40	40	TRPC4	A	1	1
RB1	5925	broad.mit.edu	36	13	47853539	47853539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:47853539C>T	uc001vcb.1	+	c.1654C>T	c.(1654-1656)CGA>TGA	p.R552*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding	p.R552*(5)		lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)			Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		R552*(NCIH1048_LUNG)	6	p.R552*(HEC251-Tumor)|p.R552*(NCIH1048-Tumor)|p.R552*(GI1-Tumor)|p.R552*(JHOM2B-Tumor)	568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.707317	95.890223	97.467815	29	12	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Nonsense_Mutation	SNP	47853539	47853539	13559	13	C	T	T	19	19	RB1	T	5	1
LPAR6	10161	broad.mit.edu	36	13	47883742	47883742	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:47883742G>A	uc001vcd.1	-	c.819C>T	c.(817-819)TAC>TAT	p.Y273Y	RB1_uc001vcb.1_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.1_Silent_p.Y273Y|LPAR6_uc001vcf.1_Silent_p.Y273Y|LPAR6_uc010acu.1_Silent_p.Y273Y	NM_005767	NP_005758	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	273	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(4)	4														0.717391	103.587979	105.538793	33	13	GG		KEEP	---	---	---	---	capture			Silent	SNP	47883742	47883742	9282	13	G	A	A	44	44	LPAR6	A	2	2
SETDB2	83852	broad.mit.edu	36	13	48948868	48948868	+	Silent	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:48948868A>G	uc001vcz.1	+	c.597A>G	c.(595-597)CTA>CTG	p.L199L	SETDB2_uc010adg.1_Silent_p.L175L|SETDB2_uc001vcy.2_Silent_p.L187L|SETDB2_uc010adh.1_Silent_p.L187L|SETDB2_uc001vda.1_Silent_p.L187L	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	CLLL8 protein	199	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)												0.604938	363.794727	365.360298	98	64	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	Silent	SNP	48948868	48948868	14628	13	A	G	G	14	14	SETDB2	G	4	4
ABCC4	10257	broad.mit.edu	36	13	94616474	94616474	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:94616474G>A	uc001vmd.2	-	c.1973C>T	c.(1972-1974)TCG>TTG	p.S658L	ABCC4_uc010afk.1_Missense_Mutation_p.S658L|ABCC4_uc001vme.2_Missense_Mutation_p.S658L|ABCC4_uc001vmf.2_Missense_Mutation_p.S615L|ABCC4_uc010afl.1_Missense_Mutation_p.S615L|ABCC4_uc010afm.1_Missense_Mutation_p.S671L	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	658					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)	3	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)					1222				0.65	171.221131	172.808569	52	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94616474	94616474	56	13	G	A	A	37	37	ABCC4	A	1	1
RNF113B	140432	broad.mit.edu	36	13	97627258	97627258	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97627258G>A	uc001vnk.1	-	c.234C>T	c.(232-234)GGC>GGT	p.G78G	FARP1_uc001vnh.1_Intron|FARP1_uc001vni.1_Intron|FARP1_uc001vnj.1_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	78							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.357143	26.741833	27.245255	10	18	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.13)		Silent	SNP	97627258	97627258	13905	13	G	A	A	38	38	RNF113B	A	1	1
BEGAIN	57596	broad.mit.edu	36	14	100074179	100074179	+	Silent	SNP	C	T	T	rs35087984	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:100074179C>T	uc001yhq.1	-	c.1662G>A	c.(1660-1662)CCG>CCA	p.P554P	BEGAIN_uc001yhp.1_Silent_p.P490P	NM_020836	NP_065887	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	554						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				NSCLC(159;1889 2010 9965 27479 40101)								0.5	20.821808	20.821808	7	7	CC		KEEP	---	---	---	---	capture			Silent	SNP	100074179	100074179	1420	14	C	T	T	23	23	BEGAIN	T	1	1
DYNC1H1	1778	broad.mit.edu	36	14	101530288	101530288	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101530288C>T	uc001yks.1	+	c.3030C>T	c.(3028-3030)TAC>TAT	p.Y1010Y		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1010	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.126263	32.239271	59.232539	25	173	CC		KEEP	---	---	---	---	capture			Silent	SNP	101530288	101530288	5027	14	C	T	T	19	19	DYNC1H1	T	1	1
DYNC1H1	1778	broad.mit.edu	36	14	101552107	101552107	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101552107C>T	uc001yks.1	+	c.7404C>T	c.(7402-7404)AAC>AAT	p.N2468N	DYNC1H1_uc001ykt.1_De_novo_Start_InFrame	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2468					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.363636	11.597154	11.777054	4	7	CC		KEEP	---	---	---	---	capture			Silent	SNP	101552107	101552107	5027	14	C	T	T	19	19	DYNC1H1	T	1	1
ZNF839	55778	broad.mit.edu	36	14	101867911	101867911	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101867911C>T	uc010awk.1	+	c.1391C>T	c.(1390-1392)TCG>TTG	p.S464L	ZNF839_uc001ylo.2_Missense_Mutation_p.S348L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.S348L|ZNF839_uc001ylr.2_Intron|ZNF839_uc001yls.2_5'UTR	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	348						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.6	9.125603	9.169286	3	2	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101867911	101867911	18788	14	C	T	T	31	31	ZNF839	T	1	1
INF2	64423	broad.mit.edu	36	14	104248389	104248389	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104248389C>T	uc001ypb.2	+	c.2310C>T	c.(2308-2310)TAC>TAT	p.Y770Y	INF2_uc001ypc.2_Silent_p.Y770Y|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	770	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)												0.666667	25.903783	26.199245	8	4	CC		KEEP	---	---	---	---	capture	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	Silent	SNP	104248389	104248389	8035	14	C	T	T	19	19	INF2	T	1	1
AHNAK2	113146	broad.mit.edu	36	14	104491054	104491054	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104491054C>T	uc010axc.1	-	c.1779G>A	c.(1777-1779)TCG>TCA	p.S593S	AHNAK2_uc001ypx.2_Silent_p.S493S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	593						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.589595	653.65395	656.081257	204	142	CC		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Silent	SNP	104491054	104491054	418	14	C	T	T	27	27	AHNAK2	T	1	1
MTA1	9112	broad.mit.edu	36	14	105002171	105002171	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:105002171G>A	uc001yqx.1	+	c.1460G>A	c.(1459-1461)CGT>CAT	p.R487H	MTA1_uc001yqy.1_Non-coding_Transcript|MTA1_uc001yrb.1_Missense_Mutation_p.R248H	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	487					regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)												0.142857	7.565902	11.856287	5	30	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	Missense_Mutation	SNP	105002171	105002171	10301	14	G	A	A	40	40	MTA1	A	1	1
MMP14	4323	broad.mit.edu	36	14	22382884	22382884	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22382884G>A	uc001whc.1	+	c.976G>A	c.(976-978)GTG>ATG	p.V326M		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	326	Hemopexin-like 1.|Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)													0.372449	204.11838	206.921376	73	123	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00551)	Missense_Mutation	SNP	22382884	22382884	10043	14	G	A	A	40	40	MMP14	A	1	1
RBM23	55147	broad.mit.edu	36	14	22443377	22443377	+	Splice_Site_SNP	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22443377T>C	uc001whg.1	-	c.865_splice	c.e10-1	p.I289_splice	RBM23_uc001whh.1_Splice_Site_SNP_p.I273_splice|RBM23_uc001whi.1_Splice_Site_SNP_p.I255_splice|RBM23_uc001whj.1_Splice_Site_SNP_p.I39_splice|RBM23_uc001whk.1_Splice_Site_SNP_p.I289_splice	NM_001077351	NP_001070819			RNA binding motif protein 23 isoform 1						mRNA processing	nucleus	nucleotide binding|RNA binding				0	all_cancers(95;4.69e-05)													0.298851	70.513878	73.661293	26	61	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0128)	Splice_Site_SNP	SNP	22443377	22443377	13585	14	T	C	C	55	55	RBM23	C	5	4
PCK2	5106	broad.mit.edu	36	14	23642921	23642921	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23642921C>T	uc001wlt.1	+	c.1831C>T	c.(1831-1833)CGG>TGG	p.R611W	NRL_uc001wlq.1_Intron|PCK2_uc001wlr.1_3'UTR|PCK2_uc001wlu.2_Missense_Mutation_p.R445W	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	611					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1														0.438356	193.777657	194.261397	64	82	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0184)	Missense_Mutation	SNP	23642921	23642921	12002	14	C	T	T	31	31	PCK2	T	1	1
PSME2	5721	broad.mit.edu	36	14	23684478	23684478	+	Missense_Mutation	SNP	G	A	A	rs1136581	unknown	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23684478G>A	uc001wmj.1	-	c.181C>T	c.(181-183)CGG>TGG	p.R61W	PSME2_uc001wmk.1_5'UTR|RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	proteasome activator subunit 2	61					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex					0														0.278788	122.400762	129.650339	46	119	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00839)	Missense_Mutation	SNP	23684478	23684478	13160	14	G	A	A	39	39	PSME2	A	1	1
TSSK4	283629	broad.mit.edu	36	14	23746454	23746454	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23746454G>A	uc001wnh.1	+	c.733G>A	c.(733-735)GCC>ACC	p.A245T	TSSK4_uc001wne.1_Missense_Mutation_p.A159T|TSSK4_uc001wnf.1_Missense_Mutation_p.A165T|TSSK4_uc001wng.1_Missense_Mutation_p.A235T	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	235	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0										41				0.417808	177.446423	178.307896	61	85	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.018)	Missense_Mutation	SNP	23746454	23746454	17224	14	G	A	A	38	38	TSSK4	A	1	1
RABGGTA	5875	broad.mit.edu	36	14	23809414	23809414	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23809414G>A	uc001wof.1	-	c.205C>T	c.(205-207)CGA>TGA	p.R69*	RABGGTA_uc001woe.1_5'Flank|RABGGTA_uc001wog.1_Nonsense_Mutation_p.R69*|RABGGTA_uc001woh.1_Non-coding_Transcript|RABGGTA_uc001woi.1_Non-coding_Transcript	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	69	PFTA 1.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0														0.358974	40.339951	41.022558	14	25	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0184)	Nonsense_Mutation	SNP	23809414	23809414	13426	14	G	A	A	39	39	RABGGTA	A	5	1
BAZ1A	11177	broad.mit.edu	36	14	34304080	34304080	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:34304080C>T	uc001wsk.1	-	c.3447G>A	c.(3445-3447)GCG>GCA	p.A1149A	BAZ1A_uc001wsl.1_Silent_p.A1117A	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1149	PHD-type.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	transcription regulator activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	6	Breast(36;0.0388)|Hepatocellular(127;0.158)													0.342593	102.241148	104.605762	37	71	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	Silent	SNP	34304080	34304080	1350	14	C	T	T	27	27	BAZ1A	T	1	1
FOXA1	3169	broad.mit.edu	36	14	37131377	37131377	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:37131377C>T	uc001wuf.1	-	c.363G>A	c.(361-363)GCG>GCA	p.A121A		NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	121					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)													0.24	15.239437	16.780687	6	19	CC		KEEP	---	---	---	---	capture	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	Silent	SNP	37131377	37131377	6231	14	C	T	T	23	23	FOXA1	T	1	1
MDGA2	161357	broad.mit.edu	36	14	46600290	46600290	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:46600290C>T	uc001wwj.2	-	c.1230G>A	c.(1228-1230)ACG>ACA	p.T410T	MDGA2_uc001wwi.2_Silent_p.T181T|MDGA2_uc010ani.1_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	410	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.290598	196.527463	205.707297	68	166	CC		KEEP	---	---	---	---	capture			Silent	SNP	46600290	46600290	9796	14	C	T	T	23	23	MDGA2	T	1	1
ATL1	51062	broad.mit.edu	36	14	50124440	50124440	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:50124440C>T	uc001wyf.2	+	c.176C>T	c.(175-177)TCG>TTG	p.S59L	ATL1_uc001wyd.2_Missense_Mutation_p.S59L|ATL1_uc001wye.2_Missense_Mutation_p.S59L|ATL1_uc010anw.1_Missense_Mutation_p.S59L	NM_015915	NP_853629	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1 isoform a	59	Cytoplasmic.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)	1														0.356707	342.996529	348.923302	117	211	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50124440	50124440	1125	14	C	T	T	31	31	ATL1	T	1	1
PTGER2	5732	broad.mit.edu	36	14	51863890	51863890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:51863890C>T	uc001wzr.1	+	c.1045C>T	c.(1045-1047)CAG>TAG	p.Q349*		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	349	Cytoplasmic (Potential).					integral to plasma membrane	prostaglandin E receptor activity				0	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)									0.336	112.602255	115.581142	42	83	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	51863890	51863890	13198	14	C	T	T	17	17	PTGER2	T	5	2
TMEM30B	161291	broad.mit.edu	36	14	60817073	60817073	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:60817073G>A	uc001xfl.1	-	c.546C>T	c.(544-546)CCC>CCT	p.P182P	TMEM30B_uc010apr.1_Non-coding_Transcript	NM_001017970	NP_001017970	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	182						integral to membrane					0														0.25	7.480849	8.122595	3	9	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)	Silent	SNP	60817073	60817073	16693	14	G	A	A	39	39	TMEM30B	A	1	1
SYNE2	23224	broad.mit.edu	36	14	63526896	63526896	+	Missense_Mutation	SNP	A	T	T			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:63526896A>T	uc001xgl.1	+	c.2328A>T	c.(2326-2328)AAA>AAT	p.K776N	SYNE2_uc001xgm.1_Missense_Mutation_p.K776N	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	776	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14														0.473684	134.563911	134.621437	45	50	AA		KEEP	---	---	---	---	capture		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	Missense_Mutation	SNP	63526896	63526896	15967	14	A	T	T	3	3	SYNE2	T	4	4
MPP5	64398	broad.mit.edu	36	14	66869337	66869337	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:66869337G>A	uc001xjc.1	+	c.1939G>A	c.(1939-1941)GAT>AAT	p.D647N	MPP5_uc001xjd.1_Missense_Mutation_p.D613N|ATP6V1D_uc001xje.1_Intron	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5	647	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			ovary(1)	1														0.232558	48.75846	54.388973	20	66	GG		KEEP	---	---	---	---	capture		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	Missense_Mutation	SNP	66869337	66869337	10129	14	G	A	A	37	37	MPP5	A	1	1
LTBP2	4053	broad.mit.edu	36	14	74043652	74043652	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74043652G>A	uc001xqa.1	-	c.3890C>T	c.(3889-3891)CCG>CTG	p.P1297L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1297	EGF-like 14; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1														0.757895	246.744947	252.50884	72	23	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	Missense_Mutation	SNP	74043652	74043652	9450	14	G	A	A	39	39	LTBP2	A	1	1
RPS6KL1	83694	broad.mit.edu	36	14	74457733	74457733	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74457733C>T	uc001xqw.1	-	c.265G>A	c.(265-267)GTT>ATT	p.V89I	RPS6KL1_uc010asd.1_Non-coding_Transcript|RPS6KL1_uc001xqy.1_Missense_Mutation_p.V89I	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	89	MIT.				protein phosphorylation	ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										524				0.515152	56.775874	56.782442	17	16	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00658)	Missense_Mutation	SNP	74457733	74457733	14139	14	C	T	T	23	23	RPS6KL1	T	1	1
VIPAR	63894	broad.mit.edu	36	14	76989481	76989481	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:76989481C>T	uc001xtt.1	-	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	VIPAR_uc001xtu.1_Missense_Mutation_p.R37Q|VIPAR_uc001xtv.1_Missense_Mutation_p.R37Q	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	37					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1														0.563177	501.042846	502.009972	156	121	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76989481	76989481	17735	14	C	T	T	23	23	VIPAR	T	1	1
FBLN5	10516	broad.mit.edu	36	14	91417423	91417423	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:91417423G>A	uc010aue.1	-	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	FBLN5_uc010aud.1_Missense_Mutation_p.R324C|FBLN5_uc001xzx.2_Missense_Mutation_p.R319C	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	319	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|lung(1)|skin(1)	5		all_cancers(154;0.0722)								478				0.12069	9.98599	18.165384	7	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91417423	91417423	5936	14	G	A	A	39	39	FBLN5	A	1	1
KIAA1409	57578	broad.mit.edu	36	14	93078729	93078729	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93078729C>T	uc001ybv.1	+	c.1158C>T	c.(1156-1158)ACC>ACT	p.T386T	KIAA1409_uc001ybs.1_Silent_p.T386T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	563						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)								1186				0.61326	375.373252	377.412751	111	70	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.188)	Silent	SNP	93078729	93078729	8539	14	C	T	T	23	23	KIAA1409	T	1	1
KIAA1409	57578	broad.mit.edu	36	14	93158543	93158543	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93158543C>T	uc001ybv.1	+	c.4746C>T	c.(4744-4746)TGC>TGT	p.C1582C	KIAA1409_uc001ybs.1_Silent_p.C1560C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1737						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)								1186				0.646341	170.394738	171.94225	53	29	CC		KEEP	---	---	---	---	capture		Epithelial(152;0.188)	Silent	SNP	93158543	93158543	8539	14	C	T	T	27	27	KIAA1409	T	1	1
HERC2	8924	broad.mit.edu	36	15	26030572	26030572	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:26030572C>T	uc001zbj.1	-	c.14437G>A	c.(14437-14439)GAT>AAT	p.D4813N	HERC2_uc001zbi.1_Missense_Mutation_p.D502N	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4813					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)								1580				0.569767	156.58461	156.949413	49	37	CC		KEEP	---	---	---	---	capture		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	Missense_Mutation	SNP	26030572	26030572	7341	15	C	T	T	31	31	HERC2	T	1	1
PGBD4	161779	broad.mit.edu	36	15	32183669	32183669	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:32183669G>A	uc001zho.1	+	c.1645G>A	c.(1645-1647)GAC>AAC	p.D549N	C15orf24_uc001zhm.1_5'Flank|C15orf24_uc001zhn.1_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	549											0		all_lung(180;1.76e-08)												0.5125	130.077991	130.088944	41	39	GG		KEEP	---	---	---	---	capture		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	Missense_Mutation	SNP	32183669	32183669	12206	15	G	A	A	37	37	PGBD4	A	1	1
RASGRP1	10125	broad.mit.edu	36	15	36581891	36581891	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:36581891G>A	uc001zke.2	-	c.1452C>T	c.(1450-1452)CAC>CAT	p.H484H	RASGRP1_uc010bbe.1_Non-coding_Transcript|RASGRP1_uc010bbf.1_Silent_p.H311H|RASGRP1_uc010bbg.1_Silent_p.H311H|RASGRP1_uc001zkd.2_Silent_p.H449H	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	484	1 (Potential).|EF-hand 1.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)												0.538462	43.750843	43.784188	14	12	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	Silent	SNP	36581891	36581891	13535	15	G	A	A	40	40	RASGRP1	A	1	1
PAK6	56924	broad.mit.edu	36	15	38345553	38345553	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38345553C>T	uc010bbl.1	+	c.423C>T	c.(421-423)CAC>CAT	p.H141H	PAK6_uc010bbm.1_Silent_p.H141H|PAK6_uc001zky.2_Silent_p.H141H|PAK6_uc010bbn.1_Silent_p.H141H|PAK6_uc001zlb.2_Silent_p.H141H	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	141	Linker.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|large_intestine(1)|ovary(1)	5		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)								94				0.75	26.878515	27.560414	9	3	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	Silent	SNP	38345553	38345553	11820	15	C	T	T	19	19	PAK6	T	1	1
CAPN3	825	broad.mit.edu	36	15	40482416	40482416	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40482416G>A	uc001zpn.1	+	c.1669G>A	c.(1669-1671)GTG>ATG	p.V557M	CAPN3_uc001zpk.1_3'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.V470M|CAPN3_uc001zpm.1_3'UTR|CAPN3_uc001zpo.1_Missense_Mutation_p.V557M|CAPN3_uc001zpp.1_Missense_Mutation_p.V509M|CAPN3_uc001zpq.1_Missense_Mutation_p.V45M|CAPN3_uc010bcv.1_5'Flank|CAPN3_uc001zpr.1_5'Flank|CAPN3_uc001zps.1_5'Flank|CAPN3_uc001zpt.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	557	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)												0.129771	21.778251	39.272453	17	114	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;7.36e-07)	Missense_Mutation	SNP	40482416	40482416	2746	15	G	A	A	40	40	CAPN3	A	1	1
TP53BP1	7158	broad.mit.edu	36	15	41536197	41536197	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41536197G>A	uc001zrr.2	-	c.1901C>T	c.(1900-1902)CCG>CTG	p.P634L	TP53BP1_uc001zrq.2_Missense_Mutation_p.P634L|TP53BP1_uc001zrs.1_Missense_Mutation_p.P629L	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	629					double-strand break repair via homologous recombination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore|cytoplasm|nucleoplasm	protein binding|transcription activator activity			ovary(2)|large_intestine(1)|pancreas(1)|kidney(1)|skin(1)	6		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)								421				0.574194	287.217316	287.969738	89	66	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;1.59e-06)	Missense_Mutation	SNP	41536197	41536197	16925	15	G	A	A	39	39	TP53BP1	A	1	1
TRPM7	54822	broad.mit.edu	36	15	48693291	48693291	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48693291G>A	uc001zyt.2	-	c.1675C>T	c.(1675-1677)CGA>TGA	p.R559*	TRPM7_uc010bew.1_Nonsense_Mutation_p.R559*|TRPM7_uc001zyu.2_Nonsense_Mutation_p.R117*	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	559	Cytoplasmic (Potential).				cell death|protein phosphorylation	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|breast(1)|central_nervous_system(1)	8										1796				0.565789	136.532049	136.818503	43	33	GG		KEEP	---	---	---	---	capture		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	Nonsense_Mutation	SNP	48693291	48693291	17142	15	G	A	A	38	38	TRPM7	A	5	1
DMXL2	23312	broad.mit.edu	36	15	49535663	49535663	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49535663G>A	uc002abf.1	-	c.8352C>T	c.(8350-8352)GAC>GAT	p.D2784D	DMXL2_uc002abd.1_Silent_p.D876D|DMXL2_uc002abe.1_Silent_p.D1918D|DMXL2_uc010bfa.1_Silent_p.D2148D	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2784	WD 11.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6														0.634615	209.676488	211.337346	66	38	GG		KEEP	---	---	---	---	capture		all cancers(107;0.00494)	Silent	SNP	49535663	49535663	4777	15	G	A	A	40	40	DMXL2	A	1	1
DMXL2	23312	broad.mit.edu	36	15	49579289	49579289	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49579289C>T	uc002abf.1	-	c.3424G>A	c.(3424-3426)GAC>AAC	p.D1142N	DMXL2_uc002abe.1_Missense_Mutation_p.D275N|DMXL2_uc010bfa.1_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1142						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6														0.134831	18.541476	30.044648	12	77	CC		KEEP	---	---	---	---	capture		all cancers(107;0.00494)	Missense_Mutation	SNP	49579289	49579289	4777	15	C	T	T	31	31	DMXL2	T	1	1
UNC13C	440279	broad.mit.edu	36	15	52703329	52703329	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:52703329C>T	uc002ack.1	+	c.6244C>T	c.(6244-6246)CGC>TGC	p.R2082C	UNC13C_uc002acm.1_Missense_Mutation_p.R3C	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2082	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7										2691				0.136364	9.722549	15.353758	6	38	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	Missense_Mutation	SNP	52703329	52703329	17544	15	C	T	T	23	23	UNC13C	T	1	1
CSNK1G1	53944	broad.mit.edu	36	15	62286838	62286838	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:62286838G>A	uc002anh.1	-	c.688C>T	c.(688-690)CGG>TGG	p.R230W	CSNK1G1_uc002ane.1_Non-coding_Transcript|CSNK1G1_uc002anf.1_Missense_Mutation_p.R230W|CSNK1G1_uc002ang.1_Missense_Mutation_p.R230W|CSNK1G1_uc002anj.2_Missense_Mutation_p.R212W	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	230	Protein kinase.				protein phosphorylation|Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0									p.R230W(G401-Tumor)	222				0.563636	106.632884	106.827052	31	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62286838	62286838	4095	15	G	A	A	39	39	CSNK1G1	A	1	1
THSD4	79875	broad.mit.edu	36	15	69322146	69322146	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:69322146G>A	uc002atb.1	+	c.569G>A	c.(568-570)CGG>CAG	p.R190Q	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	190	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2														0.536232	235.560724	235.718939	74	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69322146	69322146	16406	15	G	A	A	39	39	THSD4	A	1	1
CELF6	60677	broad.mit.edu	36	15	70366689	70366689	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70366689G>A	uc002auh.1	-	c.1417C>T	c.(1417-1419)CGG>TGG	p.R473W	CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc010biw.1_Missense_Mutation_p.R360W|CELF6_uc002aui.1_Missense_Mutation_p.R579W|CELF6_uc002auj.1_Missense_Mutation_p.R360W|CELF6_uc002auk.2_Non-coding_Transcript	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	473	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1														0.112903	7.18086	16.351115	7	55	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70366689	70366689	3353	15	G	A	A	38	38	CELF6	A	1	1
CD276	80381	broad.mit.edu	36	15	71783617	71783617	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:71783617C>T	uc002avv.1	+	c.1120C>T	c.(1120-1122)CGG>TGG	p.R374W	CD276_uc010bjd.1_Missense_Mutation_p.R228W|CD276_uc002avu.1_Missense_Mutation_p.R374W|CD276_uc002avw.1_Missense_Mutation_p.R156W|CD276_uc002avx.2_Non-coding_Transcript	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	374	Extracellular (Potential).|Ig-like C2-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding				0														0.576923	45.826817	45.960675	15	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71783617	71783617	3120	15	C	T	T	27	27	CD276	T	1	1
ISLR2	57611	broad.mit.edu	36	15	72213782	72213782	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72213782G>A	uc002axd.1	+	c.1634G>A	c.(1633-1635)CGC>CAC	p.R545H	ISLR2_uc002axe.1_Missense_Mutation_p.R545H|ISLR2_uc010bjf.1_Missense_Mutation_p.R545H|ISLR2_uc002axf.1_Missense_Mutation_p.R545H|ISLR2_uc010bjg.1_Missense_Mutation_p.R545H	NM_020851	NP_065902	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	545	Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0														0.384615	14.472412	14.623965	5	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72213782	72213782	8163	15	G	A	A	38	38	ISLR2	A	1	1
SIN3A	25942	broad.mit.edu	36	15	73469168	73469168	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:73469168G>A	uc002bai.1	-	c.2899C>T	c.(2899-2901)CGG>TGG	p.R967W	SIN3A_uc002baj.1_Missense_Mutation_p.R967W	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	967					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			ovary(1)|lung(1)	2														0.5	190.519172	190.519172	63	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73469168	73469168	14820	15	G	A	A	38	38	SIN3A	A	1	1
PSMA4	5685	broad.mit.edu	36	15	76625122	76625122	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76625122C>T	uc002bdu.2	+	c.468C>T	c.(466-468)TAC>TAT	p.Y156Y	PSMA4_uc010blf.1_Silent_p.Y156Y|PSMA4_uc002bdv.2_Silent_p.Y85Y|PSMA4_uc002bdw.2_Silent_p.Y132Y|PSMA4_uc002bdx.2_Silent_p.Y85Y	NM_002789	NP_001096138	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	156					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0										322				0.566038	384.72673	385.533322	120	92	CC		KEEP	---	---	---	---	capture			Silent	SNP	76625122	76625122	13122	15	C	T	T	19	19	PSMA4	T	1	1
CHRNA3	1136	broad.mit.edu	36	15	76681327	76681327	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76681327G>A	uc002bec.1	-	c.712C>T	c.(712-714)CGG>TGG	p.R238W	CHRNA3_uc002bea.2_Non-coding_Transcript|CHRNA3_uc002beb.2_Missense_Mutation_p.R238W	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	238	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4										173				0.266667	31.663767	33.891209	12	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76681327	76681327	3518	15	G	A	A	39	39	CHRNA3	A	1	1
C15orf40	123207	broad.mit.edu	36	15	81470001	81470001	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:81470001G>A	uc002bjm.1	-	c.149C>T	c.(148-150)GCT>GTT	p.A50V		NM_144597	NP_653198	Q8WUR7	CO040_HUMAN	hypothetical protein LOC123207	50											0														0.11465	22.62974	45.612007	18	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81470001	81470001	1844	15	G	A	A	34	34	C15orf40	A	2	2
BNC1	646	broad.mit.edu	36	15	81723496	81723496	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:81723496G>A	uc002bjt.1	-	c.1511C>T	c.(1510-1512)ACG>ATG	p.T504M		NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	504					epidermis development|positive regulation of cell proliferation|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.614286	135.035495	135.83561	43	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81723496	81723496	1499	15	G	A	A	40	40	BNC1	A	1	1
KLHL25	64410	broad.mit.edu	36	15	84113915	84113915	+	Missense_Mutation	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:84113915A>G	uc002bly.1	-	c.131T>C	c.(130-132)ATG>ACG	p.M44T	KLHL25_uc010bng.1_Missense_Mutation_p.M44T	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	44						cytoplasm				ovary(2)	2														0.586957	86.23631	86.542385	27	19	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84113915	84113915	8692	15	A	G	G	8	8	KLHL25	G	4	4
ACAN	176	broad.mit.edu	36	15	87186052	87186052	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87186052G>A	uc002bmy.1	+	c.707G>A	c.(706-708)CGA>CAA	p.R236Q	ACAN_uc002bmx.2_Missense_Mutation_p.R236Q|ACAN_uc002bmz.1_Missense_Mutation_p.R236Q	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)													0.506173	129.174102	129.176761	41	40	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.146)		Missense_Mutation	SNP	87186052	87186052	118	15	G	A	A	37	37	ACAN	A	1	1
C15orf42	90381	broad.mit.edu	36	15	87947121	87947121	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87947121G>A	uc002boe.1	+	c.2658G>A	c.(2656-2658)ACG>ACA	p.T886T		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	886					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|response to ionizing radiation|S-M checkpoint	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)	6	Lung NSC(78;0.0237)|all_lung(78;0.0478)													0.416667	15.372954	15.445698	5	7	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.128)		Silent	SNP	87947121	87947121	1846	15	G	A	A	37	37	C15orf42	A	1	1
FURIN	5045	broad.mit.edu	36	15	89225581	89225581	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:89225581C>T	uc002bpu.1	+	c.1854C>T	c.(1852-1854)TTC>TTT	p.F618F		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	618	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|positive regulation of membrane protein ectodomain proteolysis|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)	4	Lung NSC(78;0.0771)|all_lung(78;0.137)									290				0.554348	161.484548	161.715927	51	41	CC		KEEP	---	---	---	---	capture	Lung(145;0.189)		Silent	SNP	89225581	89225581	6350	15	C	T	T	31	31	FURIN	T	1	1
TEKT5	146279	broad.mit.edu	36	16	10637275	10637275	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:10637275G>A	uc002czz.1	-	c.1088C>T	c.(1087-1089)ACG>ATG	p.T363M		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	363	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2														0.377119	248.308414	251.438958	89	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10637275	10637275	16283	16	G	A	A	40	40	TEKT5	A	1	1
C1QTNF8	390664	broad.mit.edu	36	16	1084035	1084035	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1084035C>T	uc002ckr.1	-	c.226G>A	c.(226-228)GGC>AGC	p.G76S		NM_207419	NP_997302	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	76	Collagen-like.					collagen					0		Hepatocellular(780;0.00369)												0.333333	11.295696	11.591056	4	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1084035	1084035	2036	16	C	T	T	23	23	C1QTNF8	T	1	1
CACNA1H	8912	broad.mit.edu	36	16	1194251	1194251	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1194251C>T	uc002cks.1	+	c.2243C>T	c.(2242-2244)GCG>GTG	p.A748V	CACNA1H_uc002ckt.1_Missense_Mutation_p.A748V	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	748	Cytoplasmic (Potential).		A -> V (in IGE6).		axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.411765	19.922578	20.037924	7	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1194251	1194251	2661	16	C	T	T	27	27	CACNA1H	T	1	1
MKL2	57496	broad.mit.edu	36	16	14262366	14262366	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:14262366G>A	uc002dcg.1	+	c.2714G>A	c.(2713-2715)CGG>CAG	p.R905Q	MKL2_uc002dci.1_Missense_Mutation_p.R634Q|MKL2_uc002dcj.1_Missense_Mutation_p.R200Q	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	944					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5														0.38835	237.168591	239.412473	80	126	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14262366	14262366	9992	16	G	A	A	39	39	MKL2	A	1	1
TELO2	9894	broad.mit.edu	36	16	1490118	1490118	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1490118G>A	uc002cly.1	+	c.954G>A	c.(952-954)CTG>CTA	p.L318L		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	318						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)												0.166667	6.983904	10.126503	5	25	GG		KEEP	---	---	---	---	capture			Silent	SNP	1490118	1490118	16284	16	G	A	A	46	46	TELO2	A	2	2
XYLT1	64131	broad.mit.edu	36	16	17201995	17201995	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:17201995C>T	uc002dfa.1	-	c.931G>A	c.(931-933)GTG>ATG	p.V311M		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	311	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.303483	165.413931	172.333264	61	140	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17201995	17201995	18046	16	C	T	T	19	19	XYLT1	T	1	1
SYT17	51760	broad.mit.edu	36	16	19185853	19185853	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19185853G>A	uc002dfw.1	+	c.1379G>A	c.(1378-1380)CGA>CAA	p.R460Q	SYT17_uc002dfx.1_Missense_Mutation_p.R399Q|SYT17_uc002dfy.1_Missense_Mutation_p.R456Q	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	460						membrane|synaptic vesicle	transporter activity			ovary(1)	1														0.352941	35.006008	35.647141	12	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19185853	19185853	15994	16	G	A	A	37	37	SYT17	A	1	1
TBL3	10607	broad.mit.edu	36	16	1965941	1965941	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1965941C>T	uc002cnu.1	+	c.1119C>T	c.(1117-1119)CAC>CAT	p.H373H	TBL3_uc002cnv.1_Silent_p.H259H|TBL3_uc010bsb.1_Silent_p.H162H|TBL3_uc010bsc.1_Silent_p.H259H	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	373					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						Melanoma(118;616 1651 35077 38081 48633)								0.345238	80.151623	81.927248	29	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	1965941	1965941	16169	16	C	T	T	19	19	TBL3	T	1	1
ZNF598	90850	broad.mit.edu	36	16	1989849	1989849	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1989849G>A	uc002cof.1	-	c.1702C>T	c.(1702-1704)CGC>TGC	p.R568C	ZNF598_uc002coe.1_De_novo_Start_OutOfFrame	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	568						intracellular	zinc ion binding				0														0.5	11.419444	11.419444	4	4	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1989849	1989849	18623	16	G	A	A	40	40	ZNF598	A	1	1
PKD1	5310	broad.mit.edu	36	16	2096666	2096666	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2096666C>T	uc002cos.1	-	c.7223G>A	c.(7222-7224)CGT>CAT	p.R2408H	PKD1_uc002cot.1_Missense_Mutation_p.R2408H|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2408	Extracellular (Potential).|REJ.		R -> C (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(1)	1														0.333333	19.618866	20.135046	7	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2096666	2096666	12387	16	C	T	T	19	19	PKD1	T	1	1
TMEM159	57146	broad.mit.edu	36	16	21092891	21092891	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21092891G>A	uc002dif.2	+	c.325G>A	c.(325-327)GTA>ATA	p.V109I	TMEM159_uc002dig.2_Non-coding_Transcript|TMEM159_uc002dih.2_Missense_Mutation_p.V109I	NM_020422	NP_065155	Q96B96	TM159_HUMAN	transmembrane protein 159	109	Helical; (Potential).					integral to membrane				ovary(1)	1														0.43787	210.998338	211.549955	74	95	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0972)	Missense_Mutation	SNP	21092891	21092891	16608	16	G	A	A	40	40	TMEM159	A	1	1
EEF2K	29904	broad.mit.edu	36	16	22185659	22185659	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:22185659G>A	uc002dki.1	+	c.1725G>A	c.(1723-1725)TCG>TCA	p.S575S	EEF2K_uc002dkh.2_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	575					insulin receptor signaling pathway|protein phosphorylation|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1						NSCLC(195;1411 2157 20319 27471 51856)				274				0.365672	137.245404	139.368932	49	85	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0223)	Silent	SNP	22185659	22185659	5117	16	G	A	A	38	38	EEF2K	A	1	1
E4F1	1877	broad.mit.edu	36	16	2225295	2225295	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2225295C>T	uc002cpm.1	+	c.2076C>T	c.(2074-2076)AAC>AAT	p.N692N	DNASE1L2_uc002cpn.1_5'Flank|DNASE1L2_uc002cpo.1_5'Flank|DNASE1L2_uc002cpp.1_5'Flank|DNASE1L2_uc002cpq.1_5'Flank|E4F1_uc010bsi.1_3'UTR|E4F1_uc010bsj.1_Silent_p.N515N	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	692					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth|regulation of transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1														0.290323	65.509384	69.163905	27	66	CC		KEEP	---	---	---	---	capture			Silent	SNP	2225295	2225295	5060	16	C	T	T	19	19	E4F1	T	1	1
ABCA3	21	broad.mit.edu	36	16	2278113	2278113	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2278113G>A	uc002cpy.1	-	c.2919C>T	c.(2917-2919)CCC>CCT	p.P973P	ABCA3_uc010bsk.1_Silent_p.P915P	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	973					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				0.322581	29.549645	30.410601	10	21	GG		KEEP	---	---	---	---	capture			Silent	SNP	2278113	2278113	34	16	G	A	A	39	39	ABCA3	A	1	1
DCTN5	84516	broad.mit.edu	36	16	23580056	23580056	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23580056G>A	uc002dly.1	+	c.301G>A	c.(301-303)GCA>ACA	p.A101T		NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	dynactin 5	101						cytoplasm|cytoskeleton	transferase activity			upper_aerodigestive_tract(1)	1														0.284091	132.373716	139.741995	50	126	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0156)	Missense_Mutation	SNP	23580056	23580056	4481	16	G	A	A	38	38	DCTN5	A	1	1
CACNG3	10368	broad.mit.edu	36	16	24280471	24280471	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24280471G>A	uc002dmf.1	+	c.734G>A	c.(733-735)CGA>CAA	p.R245Q		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	245					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0														0.391304	128.044652	129.235493	45	70	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0809)	Missense_Mutation	SNP	24280471	24280471	2674	16	G	A	A	37	37	CACNG3	A	1	1
RBBP6	5930	broad.mit.edu	36	16	24489270	24489270	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24489270G>A	uc002dmh.1	+	c.3758G>A	c.(3757-3759)CGA>CAA	p.R1253Q	RBBP6_uc002dmi.1_Missense_Mutation_p.R1219Q|RBBP6_uc010bxr.1_Intron|RBBP6_uc002dmk.1_Missense_Mutation_p.R1086Q	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1253					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4														0.338028	69.077107	70.724855	24	47	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0518)	Missense_Mutation	SNP	24489270	24489270	13564	16	G	A	A	37	37	RBBP6	A	1	1
LCMT1	51451	broad.mit.edu	36	16	25083477	25083477	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:25083477C>T	uc002dnx.1	+	c.627C>T	c.(625-627)TCC>TCT	p.S209S	LCMT1_uc002dny.1_Silent_p.S154S|LCMT1_uc002dnz.1_Silent_p.S109S|LCMT1_uc002doa.1_Silent_p.S54S	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1 isoform a	209							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity				0					L-Leucine(DB00149)	Colon(200;565 2072 24396 47922 50898)								0.333333	86.245649	88.38609	29	58	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0336)	Silent	SNP	25083477	25083477	9002	16	C	T	T	23	23	LCMT1	T	1	1
GTF3C1	2975	broad.mit.edu	36	16	27420057	27420057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27420057G>A	uc002dov.1	-	c.2017C>T	c.(2017-2019)CGA>TGA	p.R673*	GTF3C1_uc002dou.2_Nonsense_Mutation_p.R673*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	673					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|breast(1)|pancreas(1)	4														0.381579	166.603552	168.475422	58	94	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27420057	27420057	7152	16	G	A	A	38	38	GTF3C1	A	5	1
SRRM2	23524	broad.mit.edu	36	16	2757605	2757605	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2757605G>A	uc002crk.1	+	c.7075G>A	c.(7075-7077)GCA>ACA	p.A2359T	SRRM2_uc002crj.1_Missense_Mutation_p.A2263T|SRRM2_uc002crl.1_Missense_Mutation_p.A2359T|SRRM2_uc010bsu.1_Missense_Mutation_p.A2263T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2359	Ala-rich.|Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.305556	105.167555	110.012822	44	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2757605	2757605	15683	16	G	A	A	38	38	SRRM2	A	1	1
TCEB2	6923	broad.mit.edu	36	16	2765495	2765495	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:2765495G>A	uc002crm.1	-	c.202C>T	c.(202-204)CGG>TGG	p.R68W	TCEB2_uc002crn.1_Missense_Mutation_p.R68W	NM_207013	NP_996896	Q15370	ELOB_HUMAN	elongin B isoform b	68					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding				0						GBM(141;5215 5962)								0.321429	20.966002	21.758713	9	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2765495	2765495	16206	16	G	A	A	40	40	TCEB2	A	1	1
KIAA0556	23247	broad.mit.edu	36	16	27693789	27693789	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27693789C>T	uc002dow.1	+	c.4332C>T	c.(4330-4332)AGC>AGT	p.S1444S		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1444										ovary(4)|large_intestine(2)	6														0.36	98.376671	100.100185	36	64	CC		KEEP	---	---	---	---	capture			Silent	SNP	27693789	27693789	8490	16	C	T	T	27	27	KIAA0556	T	1	1
HIRIP3	8479	broad.mit.edu	36	16	29912828	29912828	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:29912828C>T	uc002dve.1	-	c.1139G>A	c.(1138-1140)GGG>GAG	p.G380E	BOLA2_uc010bzb.1_Intron|BOLA2_uc010bzc.1_Intron|HIRIP3_uc002dvf.1_Intron|HIRIP3_uc010bzn.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	380					chromatin assembly or disassembly	nucleus	protein binding				0														0.336957	93.895463	96.059308	31	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29912828	29912828	7406	16	C	T	T	22	22	HIRIP3	T	2	2
ZNF785	146540	broad.mit.edu	36	16	30501759	30501759	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30501759C>T	uc002dyw.1	-	c.841G>A	c.(841-843)GAG>AAG	p.E281K	ZNF785_uc002dyv.1_Missense_Mutation_p.E266K	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.380952	45.289226	45.810827	16	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30501759	30501759	18755	16	C	T	T	31	31	ZNF785	T	1	1
ZNF689	115509	broad.mit.edu	36	16	30523952	30523952	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30523952G>A	uc002dyx.1	-	c.637C>T	c.(637-639)CGT>TGT	p.R213C	ZNF689_uc010bzy.1_De_novo_Start_OutOfFrame	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	213	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.453608	129.173212	129.356554	44	53	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Missense_Mutation	SNP	30523952	30523952	18689	16	G	A	A	40	40	ZNF689	A	1	1
SRCAP	10847	broad.mit.edu	36	16	30656111	30656111	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30656111G>A	uc002dze.1	+	c.7249G>A	c.(7249-7251)GCC>ACC	p.A2417T	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A2212T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2417					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3														0.323077	54.14785	55.956657	21	44	GG		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Missense_Mutation	SNP	30656111	30656111	15649	16	G	A	A	38	38	SRCAP	A	1	1
SRCAP	10847	broad.mit.edu	36	16	30658424	30658424	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30658424C>T	uc002dze.1	+	c.9562C>T	c.(9562-9564)CGC>TGC	p.R3188C	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.R2983C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3188					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3														0.294118	12.270054	12.914007	5	12	CC		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Missense_Mutation	SNP	30658424	30658424	15649	16	C	T	T	19	19	SRCAP	T	1	1
ZNF629	23361	broad.mit.edu	36	16	30702543	30702543	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:30702543C>T	uc002dzs.1	-	c.607G>A	c.(607-609)GAG>AAG	p.E203K		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.255814	27.311954	29.632683	11	32	CC		KEEP	---	---	---	---	capture	Colorectal(24;0.198)		Missense_Mutation	SNP	30702543	30702543	18648	16	C	T	T	31	31	ZNF629	T	1	1
MYST1	84148	broad.mit.edu	36	16	31046165	31046165	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:31046165G>A	uc002eax.1	+	c.671G>A	c.(670-672)CGC>CAC	p.R224H	MYST1_uc002eay.1_Missense_Mutation_p.R224H|MYST1_uc002eaz.1_Missense_Mutation_p.R66H|MYST1_uc002eba.2_Missense_Mutation_p.R8H|MYST1_uc002ebb.1_5'Flank	NM_182958	NP_892003	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 2	224	C2HC-type.				chromatin assembly or disassembly|histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|MLL1 complex|MSL complex	chromatin binding|histone acetyltransferase activity|metal ion binding|transcription factor binding			ovary(1)	1														0.361111	104.717202	106.541134	39	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31046165	31046165	10497	16	G	A	A	38	38	MYST1	A	1	1
ZNF263	10127	broad.mit.edu	36	16	3279480	3279480	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3279480C>T	uc002cuq.1	+	c.973C>T	c.(973-975)CGA>TGA	p.R325*	ZNF263_uc002cur.1_5'Flank	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	325					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.315436	131.50625	136.00248	47	102	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	3279480	3279480	18395	16	C	T	T	23	23	ZNF263	T	5	1
ZNF434	54925	broad.mit.edu	36	16	3374792	3374792	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3374792C>T	uc002cux.2	-	c.899G>A	c.(898-900)CGG>CAG	p.R300Q	ZNF434_uc002cuy.2_Missense_Mutation_p.R12Q|ZNF434_uc002cuz.1_Missense_Mutation_p.R89Q	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	zinc finger protein 434	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.31746	285.628967	294.938826	100	215	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3374792	3374792	18501	16	C	T	T	23	23	ZNF434	T	1	1
MRPL28	10573	broad.mit.edu	36	16	358590	358590	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:358590C>T	uc002cgr.1	-	c.488G>A	c.(487-489)CGA>CAA	p.R163Q	MRPL28_uc010bqu.1_Missense_Mutation_p.R163Q|MRPL28_uc002cgs.1_Missense_Mutation_p.R163Q|MRPL28_uc002cgt.1_Missense_Mutation_p.R163Q	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	163					translation	mitochondrial ribosome	structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)												0.444444	170.793468	171.130281	56	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	358590	358590	10185	16	C	T	T	31	31	MRPL28	T	1	1
ZNF500	26048	broad.mit.edu	36	16	4742875	4742875	+	Missense_Mutation	SNP	G	A	A	rs2305658	by-hapmap	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4742875G>A	uc002cxp.1	-	c.946C>T	c.(946-948)CGG>TGG	p.R316W	ZNF500_uc002cxo.1_Missense_Mutation_p.R108W	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	316					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2														0.345455	48.626702	49.777993	19	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4742875	4742875	18542	16	G	A	A	40	40	ZNF500	A	1	1
GLYR1	84656	broad.mit.edu	36	16	4801200	4801200	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4801200G>A	uc002cxx.2	-	c.1559C>T	c.(1558-1560)CCG>CTG	p.P520L	GLYR1_uc002cxy.2_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.P434L|GLYR1_uc002cya.2_Missense_Mutation_p.P514L	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	520					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0														0.348315	182.808024	186.417083	62	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4801200	4801200	6752	16	G	A	A	39	39	GLYR1	A	1	1
ZNF423	23090	broad.mit.edu	36	16	48116854	48116854	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48116854C>T	uc002efs.1	-	c.3630G>A	c.(3628-3630)CCG>CCA	p.P1210P		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1210	C2H2-type 28.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.350515	98.730347	100.637979	34	63	CC		KEEP	---	---	---	---	capture			Silent	SNP	48116854	48116854	18491	16	C	T	T	23	23	ZNF423	T	1	1
ZNF423	23090	broad.mit.edu	36	16	48229438	48229438	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48229438C>T	uc002efs.1	-	c.1126G>A	c.(1126-1128)GCC>ACC	p.A376T		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	376					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)							p.A376T(GP2D-Tumor)|p.A376T(2313287-Tumor)	386				0.448276	77.641787	77.776961	26	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48229438	48229438	18491	16	C	T	T	27	27	ZNF423	T	1	1
ADCY7	113	broad.mit.edu	36	16	48896358	48896358	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:48896358C>T	uc002egd.1	+	c.1582C>T	c.(1582-1584)CGG>TGG	p.R528W	ADCY7_uc002egb.1_Missense_Mutation_p.R528W|ADCY7_uc002egc.1_Missense_Mutation_p.R528W	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	528	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding				0		all_cancers(37;0.0127)			Bromocriptine(DB01200)									0.212121	49.336357	56.909504	21	78	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(240;0.195)	Missense_Mutation	SNP	48896358	48896358	300	16	C	T	T	23	23	ADCY7	T	1	1
SEC14L5	9717	broad.mit.edu	36	16	4980865	4980865	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4980865G>A	uc002cye.2	+	c.442G>A	c.(442-444)GCC>ACC	p.A148T		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	148	PRELI/MSF1.					integral to membrane|intracellular	transporter activity				0														0.423077	30.519512	30.653934	11	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4980865	4980865	14471	16	G	A	A	38	38	SEC14L5	A	1	1
AMFR	267	broad.mit.edu	36	16	54996416	54996416	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:54996416G>A	uc002eiy.1	-	c.746C>T	c.(745-747)ACG>ATG	p.T249M	AMFR_uc002eix.1_5'Flank	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	249					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						Pancreas(2;144 323 39528)								0.382716	179.911898	181.865731	62	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54996416	54996416	574	16	G	A	A	40	40	AMFR	A	1	1
CA7	766	broad.mit.edu	36	16	65444170	65444170	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65444170C>T	uc002eqi.1	+	c.571C>T	c.(571-573)CGG>TGG	p.R191W	CA7_uc002eqj.1_Missense_Mutation_p.R135W	NM_005182	NP_001014435	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	191					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)												0.333333	80.121406	82.102473	27	54	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Missense_Mutation	SNP	65444170	65444170	2638	16	C	T	T	23	23	CA7	T	1	1
FHOD1	29109	broad.mit.edu	36	16	65827977	65827977	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:65827977C>T	uc002esl.1	-	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	FHOD1_uc010ced.1_Missense_Mutation_p.E242K	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	435	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)												0.272727	7.92012	8.432259	3	8	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	Missense_Mutation	SNP	65827977	65827977	6120	16	C	T	T	31	31	FHOD1	T	1	1
RANBP10	57610	broad.mit.edu	36	16	66320859	66320859	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66320859C>T	uc002eud.1	-	c.1177G>A	c.(1177-1179)GTC>ATC	p.V393I	RANBP10_uc010ceo.1_Missense_Mutation_p.V164I	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	393	Ser-rich.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)												0.191489	19.266031	23.43166	9	38	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	Missense_Mutation	SNP	66320859	66320859	13486	16	C	T	T	19	19	RANBP10	T	1	1
EDC4	23644	broad.mit.edu	36	16	66468724	66468724	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66468724G>A	uc002eur.1	+	c.555G>A	c.(553-555)GCG>GCA	p.A185A	EDC4_uc010cer.1_5'UTR|EDC4_uc010ces.1_Silent_p.A28A|EDC4_uc002eus.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	185	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)												0.542373	89.981431	90.072649	32	27	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Silent	SNP	66468724	66468724	5095	16	G	A	A	38	38	EDC4	A	1	1
EDC4	23644	broad.mit.edu	36	16	66471145	66471145	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66471145C>T	uc002eur.1	+	c.1788C>T	c.(1786-1788)GAC>GAT	p.D596D	EDC4_uc010cer.1_Silent_p.D215D|EDC4_uc010ces.1_Silent_p.D384D|EDC4_uc002eus.1_Silent_p.D326D|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	596					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)												0.321839	149.93688	154.843087	56	118	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Silent	SNP	66471145	66471145	5095	16	C	T	T	19	19	EDC4	T	1	1
CTRL	1506	broad.mit.edu	36	16	66521406	66521406	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66521406C>T	uc002euw.1	-	c.727G>A	c.(727-729)GCA>ACA	p.A243T		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like	243	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)												0.417722	188.446031	189.372493	66	92	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	Missense_Mutation	SNP	66521406	66521406	4187	16	C	T	T	27	27	CTRL	T	1	1
SMPD3	55512	broad.mit.edu	36	16	66956194	66956194	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66956194C>T	uc002ewa.1	-	c.1516G>A	c.(1516-1518)GTC>ATC	p.V506I	SMPD3_uc010cfe.1_Missense_Mutation_p.V506I	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral	506	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		Ovarian(137;0.0563)			Phosphatidylserine(DB00144)									0.346667	72.034571	73.587667	26	49	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Missense_Mutation	SNP	66956194	66956194	15306	16	C	T	T	19	19	SMPD3	T	1	1
SMPD3	55512	broad.mit.edu	36	16	66962778	66962778	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66962778C>T	uc002ewa.1	-	c.808G>A	c.(808-810)GGA>AGA	p.G270R	SMPD3_uc010cfe.1_Missense_Mutation_p.G270R	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral	270	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		Ovarian(137;0.0563)			Phosphatidylserine(DB00144)									0.527778	59.030027	59.05462	19	17	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Missense_Mutation	SNP	66962778	66962778	15306	16	C	T	T	23	23	SMPD3	T	1	1
DDX19B	11269	broad.mit.edu	36	16	68924963	68924963	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:68924963G>A	uc002eyo.1	+	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	DDX19A_uc002eys.1_Intron|DDX19B_uc002eyp.1_Missense_Mutation_p.E442K|DDX19B_uc002eyq.1_Missense_Mutation_p.E364K|DDX19B_uc002eyr.1_Missense_Mutation_p.E322K	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	473	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				Esophageal Squamous(26;382 757 1343 9728 15939)								0.411168	246.244209	247.600529	81	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68924963	68924963	4518	16	G	A	A	37	37	DDX19B	A	1	1
VAC14	55697	broad.mit.edu	36	16	69290154	69290154	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69290154G>A	uc002ezm.1	-	c.1723C>T	c.(1723-1725)CGG>TGG	p.R575W	VAC14_uc010cfw.1_Missense_Mutation_p.R341W|VAC14_uc002ezn.1_Missense_Mutation_p.R140W|VAC14_uc002ezl.1_Missense_Mutation_p.R7W|VAC14_uc010cfx.1_Missense_Mutation_p.R53W	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	575	HEAT 6.				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)	1		Ovarian(137;0.0699)												0.487805	117.7231	117.732368	40	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69290154	69290154	17676	16	G	A	A	38	38	VAC14	A	1	1
HYDIN	54768	broad.mit.edu	36	16	69767039	69767039	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69767039C>T	uc002ezr.1	-	c.488G>A	c.(487-489)CGA>CAA	p.R163Q	HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.1_Missense_Mutation_p.R163Q|HYDIN_uc002ezw.2_Missense_Mutation_p.R180Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	163										ovary(1)	1		Ovarian(137;0.0654)												0.333333	115.70948	118.808423	42	84	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69767039	69767039	7767	16	C	T	T	31	31	HYDIN	T	1	1
DHX38	9785	broad.mit.edu	36	16	70699654	70699654	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:70699654C>T	uc002fcb.1	+	c.2992C>T	c.(2992-2994)CGG>TGG	p.R998W		NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	998					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0		Ovarian(137;0.125)				Melanoma(97;711 1442 7855 13832 28836)								0.430556	96.812482	97.115426	31	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70699654	70699654	4690	16	C	T	T	23	23	DHX38	T	1	1
ZFHX3	463	broad.mit.edu	36	16	71388004	71388004	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71388004G>A	uc002fck.1	-	c.6078C>T	c.(6076-6078)TAC>TAT	p.Y2026Y	ZFHX3_uc002fcl.1_Silent_p.Y1112Y	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	2026					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.491803	180.302925	180.309779	60	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	71388004	71388004	18222	16	G	A	A	40	40	ZFHX3	A	1	1
ZFHX3	463	broad.mit.edu	36	16	71549584	71549584	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:71549584C>T	uc002fck.1	-	c.1962G>A	c.(1960-1962)TCG>TCA	p.S654S	ZFHX3_uc002fcl.1_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	AT-binding transcription factor 1	654	C2H2-type 2.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.278351	69.902402	74.178021	27	70	CC		KEEP	---	---	---	---	capture			Silent	SNP	71549584	71549584	18222	16	C	T	T	27	27	ZFHX3	T	1	1
GLG1	2734	broad.mit.edu	36	16	73060428	73060428	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73060428G>A	uc002fcx.1	-	c.2353C>T	c.(2353-2355)CGC>TGC	p.R785C	GLG1_uc002fcy.2_Missense_Mutation_p.R785C|GLG1_uc002fcz.2_Missense_Mutation_p.R202C	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	golgi apparatus protein 1	785	Cys-rich GLG1 11.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2									p.R785C(SNU1040-Tumor)	1034				0.344828	83.408057	85.218876	30	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73060428	73060428	6704	16	G	A	A	38	38	GLG1	A	1	1
CFDP1	10428	broad.mit.edu	36	16	74004060	74004060	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:74004060G>A	uc002fdy.1	-	c.276C>T	c.(274-276)GAC>GAT	p.D92D	CFDP1_uc002fdz.1_Missense_Mutation_p.T16M|CFDP1_uc002fea.1_Silent_p.D92D	NM_006324	NP_006315	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	92	Glu-rich.				multicellular organismal development						0														0.384021	431.581881	436.158099	149	239	GG		KEEP	---	---	---	---	capture			Silent	SNP	74004060	74004060	3415	16	G	A	A	40	40	CFDP1	A	1	1
MSLNL	401827	broad.mit.edu	36	16	763135	763135	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:763135C>T	uc002cjz.1	-	c.2134G>A	c.(2134-2136)GCA>ACA	p.A712T		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	361	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4														0.460526	102.432558	102.533279	35	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	763135	763135	10275	16	C	T	T	27	27	MSLNL	T	1	1
CHTF18	63922	broad.mit.edu	36	16	787923	787923	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:787923G>A	uc002ckf.2	+	c.2959G>A	c.(2959-2961)GAG>AAG	p.E987K	CHTF18_uc002cke.2_Missense_Mutation_p.E959K|CHTF18_uc010brf.1_Missense_Mutation_p.E541K|CHTF18_uc002ckg.2_Missense_Mutation_p.E477K	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	959					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)												0.371429	37.16833	37.675655	13	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	787923	787923	3548	16	G	A	A	37	37	CHTF18	A	1	1
PKD1L2	114780	broad.mit.edu	36	16	79721718	79721718	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79721718C>T	uc002fgh.1	-	c.5890G>A	c.(5890-5892)GTG>ATG	p.V1964M	PKD1L2_uc002fgf.1_De_novo_Start_OutOfFrame|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1964	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.642857	28.581066	28.834893	9	5	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79721718	79721718	12389	16	C	T	T	19	19	PKD1L2	T	1	1
PKD1L2	114780	broad.mit.edu	36	16	79806207	79806207	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79806207C>T	uc002fgh.1	-	c.557G>A	c.(556-558)CGC>CAC	p.R186H	PKD1L2_uc002fgj.1_Missense_Mutation_p.R186H	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	186	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3												OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.619048	39.080532	39.343237	13	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79806207	79806207	12389	16	C	T	T	27	27	PKD1L2	T	1	1
JPH3	57338	broad.mit.edu	36	16	86235852	86235852	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:86235852C>T	uc002fkd.1	+	c.870C>T	c.(868-870)GGC>GGT	p.G290G		NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	290	Cytoplasmic (Potential).|MORN 7.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2														0.348837	81.53046	83.261511	30	56	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0287)	Silent	SNP	86235852	86235852	8266	16	C	T	T	27	27	JPH3	T	1	1
CBFA2T3	863	broad.mit.edu	36	16	87474696	87474696	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87474696G>A	uc002fmm.1	-	c.1404C>T	c.(1402-1404)GAC>GAT	p.D468D	CBFA2T3_uc002fmk.1_De_novo_Start_OutOfFrame|CBFA2T3_uc002fml.1_Silent_p.D382D	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	468					cell proliferation|granulocyte differentiation|regulation of transcription, DNA-dependent	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)	3										305				0.444444	10.191617	10.216722	4	5	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0275)	Silent	SNP	87474696	87474696	2817	16	G	A	A	40	40	CBFA2T3	A	1	1
ANKRD11	29123	broad.mit.edu	36	16	87874646	87874646	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87874646G>A	uc002fmx.1	-	c.5805C>T	c.(5803-5805)GAC>GAT	p.D1935D	ANKRD11_uc002fmy.1_Silent_p.D1935D|ANKRD11_uc002fnc.1_Silent_p.D1935D|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.D1892D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1935	Pro-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)												0.4375	114.527109	114.854859	42	54	GG		KEEP	---	---	---	---	capture		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	Silent	SNP	87874646	87874646	642	16	G	A	A	40	40	ANKRD11	A	1	1
ANKRD11	29123	broad.mit.edu	36	16	87879204	87879204	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:87879204G>A	uc002fmx.1	-	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	ANKRD11_uc002fmy.1_Missense_Mutation_p.A416V|ANKRD11_uc002fnc.1_Missense_Mutation_p.A416V|ANKRD11_uc002fnb.1_Missense_Mutation_p.A373V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	416						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)												0.42246	225.436463	226.405664	79	108	GG		KEEP	---	---	---	---	capture		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	Missense_Mutation	SNP	87879204	87879204	642	16	G	A	A	38	38	ANKRD11	A	1	1
FANCA	2175	broad.mit.edu	36	16	88404877	88404877	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88404877C>T	uc002fou.1	-	c.387G>A	c.(385-387)GCG>GCA	p.A129A	FANCA_uc002fov.1_Silent_p.A112A|FANCA_uc002fow.1_Silent_p.A129A|FANCA_uc002fox.1_Silent_p.A129A|FANCA_uc010ciu.1_Silent_p.A129A|FANCA_uc002foy.1_Silent_p.A129A	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	129					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)								1099				0.389058	382.155083	385.691429	128	201	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.028)	Silent	SNP	88404877	88404877	5898	16	C	T	T	23	23	FANCA	T	1	1
TCF25	22980	broad.mit.edu	36	16	88492762	88492762	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88492762G>A	uc002fpb.1	+	c.1202G>A	c.(1201-1203)CGC>CAC	p.R401H	TCF25_uc002fpc.1_Missense_Mutation_p.R166H	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	401					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)												0.380952	58.671363	59.458197	24	39	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0288)	Missense_Mutation	SNP	88492762	88492762	16219	16	G	A	A	38	38	TCF25	A	1	1
TCF25	22980	broad.mit.edu	36	16	88498917	88498917	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88498917G>A	uc002fpb.1	+	c.1540G>A	c.(1540-1542)GCC>ACC	p.A514T	TCF25_uc002fpc.1_Missense_Mutation_p.A279T|TCF25_uc002fpd.1_Missense_Mutation_p.A112T	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	514					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)												0.2	6.916874	8.172078	3	12	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0288)	Missense_Mutation	SNP	88498917	88498917	16219	16	G	A	A	38	38	TCF25	A	1	1
TUBB3	10381	broad.mit.edu	36	16	88526522	88526522	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88526522G>A	uc002fpf.2	+	c.1141G>A	c.(1141-1143)GGC>AGC	p.G381S	TUBB3_uc010ciz.1_5'UTR|TUBB3_uc010cja.1_Non-coding_Transcript|TUBB3_uc002fpg.1_5'UTR|TUBB3_uc002fph.1_Missense_Mutation_p.G34S|TUBB3_uc002fpi.1_5'UTR|TUBB3_uc002fpj.1_5'UTR|TUBB3_uc010cjb.1_5'UTR|TUBB3_uc002fpk.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	34					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)												0.25	46.54826	50.40719	17	51	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Missense_Mutation	SNP	88526522	88526522	17312	16	G	A	A	39	39	TUBB3	A	1	1
MYH4	4622	broad.mit.edu	36	17	10296146	10296146	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10296146G>A	uc002gmn.1	-	c.3575C>T	c.(3574-3576)ACG>ATG	p.T1192M		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1192	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.471831	204.930249	205.026578	67	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10296146	10296146	10432	17	G	A	A	40	40	MYH4	A	1	1
MYO1C	4641	broad.mit.edu	36	17	1321967	1321967	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1321967C>T	uc002fsp.1	-	c.2005G>A	c.(2005-2007)GAA>AAA	p.E669K	MYO1C_uc002fsn.1_Missense_Mutation_p.E650K|MYO1C_uc002fso.1_Missense_Mutation_p.E634K	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	myosin IC isoform a	669	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0														0.096154	6.775283	23.779619	10	94	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Missense_Mutation	SNP	1321967	1321967	10465	17	C	T	T	31	31	MYO1C	T	1	1
MYO1C	4641	broad.mit.edu	36	17	1328174	1328174	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1328174G>A	uc002fsp.1	-	c.1358C>T	c.(1357-1359)ACG>ATG	p.T453M	MYO1C_uc002fsn.1_Missense_Mutation_p.T434M|MYO1C_uc002fso.1_Missense_Mutation_p.T418M	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	myosin IC isoform a	453	Myosin head-like.			T -> P (in Ref. 1; CAA67131).	mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0														0.536232	111.775777	111.854304	37	32	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Missense_Mutation	SNP	1328174	1328174	10465	17	G	A	A	40	40	MYO1C	A	1	1
RAI1	10743	broad.mit.edu	36	17	17639207	17639207	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17639207C>T	uc002grm.1	+	c.2220C>T	c.(2218-2220)AGC>AGT	p.S740S	RAI1_uc002grn.1_Silent_p.S740S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	740						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1														0.342593	98.415538	100.745515	37	71	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(1115;0.0276)	Silent	SNP	17639207	17639207	13467	17	C	T	T	27	27	RAI1	T	1	1
MFAP4	4239	broad.mit.edu	36	17	19228504	19228504	+	Missense_Mutation	SNP	C	G	G			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19228504C>G	uc002gvs.1	-	c.704G>C	c.(703-705)AGC>ACC	p.S235T	MFAP4_uc002gvr.1_Non-coding_Transcript|MFAP4_uc002gvt.1_Missense_Mutation_p.S211T	NM_002404	NP_002395	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	211	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding				0	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)													0.333333	11.567223	11.937622	5	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19228504	19228504	9907	17	C	G	G	28	28	MFAP4	G	3	3
ULK2	9706	broad.mit.edu	36	17	19640123	19640123	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19640123C>T	uc002gwm.2	-	c.1874G>A	c.(1873-1875)CGT>CAT	p.R625H	ULK2_uc002gwn.1_Missense_Mutation_p.R625H	NM_014683	NP_055498	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	625					protein phosphorylation|signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)									475				0.56	134.163681	134.400446	42	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19640123	19640123	17534	17	C	T	T	19	19	ULK2	T	1	1
KSR1	8844	broad.mit.edu	36	17	22961221	22961221	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:22961221C>T	uc010crg.1	+	c.1882C>T	c.(1882-1884)CGT>TGT	p.R628C	KSR1_uc002gzm.1_Missense_Mutation_p.R407C|KSR1_uc002gzn.1_5'UTR	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	763	Protein kinase.				protein phosphorylation|Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)					Esophageal Squamous(88;1120 1336 6324 10502 16832)				1488		OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.476562	174.379974	174.4396	61	67	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	Missense_Mutation	SNP	22961221	22961221	8904	17	C	T	T	27	27	KSR1	T	1	1
LGALS9	3965	broad.mit.edu	36	17	22996473	22996473	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:22996473G>A	uc002gzp.1	+	c.547G>A	c.(547-549)GGC>AGC	p.G183S	LGALS9_uc002gzq.1_Missense_Mutation_p.G151S|LGALS9_uc002gzr.1_Missense_Mutation_p.G94S|LGALS9_uc002gzs.1_Missense_Mutation_p.G151S	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	183					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)								0.240672	335.609321	368.43015	129	407	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	Missense_Mutation	SNP	22996473	22996473	9074	17	G	A	A	39	39	LGALS9	A	1	1
ANKRD13B	124930	broad.mit.edu	36	17	24958965	24958965	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24958965G>A	uc002hei.1	+	c.194G>A	c.(193-195)CGT>CAT	p.R65H	ANKRD13B_uc002heh.1_De_novo_Start_OutOfFrame|ANKRD13B_uc002hej.2_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	65	ANK 1.										0														0.325843	76.939371	79.336978	29	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24958965	24958965	645	17	G	A	A	40	40	ANKRD13B	A	1	1
NF1	4763	broad.mit.edu	36	17	26514415	26514415	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:26514415G>A	uc002hgg.1	+	c.374G>A	c.(373-375)CGT>CAT	p.R125H	NF1_uc002hge.1_Missense_Mutation_p.R125H|NF1_uc002hgf.1_Missense_Mutation_p.R125H|NF1_uc002hgh.1_Missense_Mutation_p.R125H|NF1_uc010csn.1_Missense_Mutation_p.V21M	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	125					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)|p.F120fs*1(1)		soft_tissue(155)|central_nervous_system(56)|large_intestine(27)|lung(19)|haematopoietic_and_lymphoid_tissue(13)|ovary(12)|autonomic_ganglia(7)|skin(3)|stomach(2)|breast(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	300		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)								847	TCGA GBM(6;<1E-8)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			0.369748	125.170169	126.943852	44	75	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	Missense_Mutation	SNP	26514415	26514415	10756	17	G	A	A	40	40	NF1	A	1	1
RHBDL3	162494	broad.mit.edu	36	17	27640030	27640030	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:27640030G>A	uc002hhe.1	+	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	RHBDL3_uc010csw.1_Missense_Mutation_p.R126Q|RHBDL3_uc010csx.1_Missense_Mutation_p.R134Q|RHBDL3_uc010csy.1_Missense_Mutation_p.R36Q|RHBDL3_uc002hhf.1_Missense_Mutation_p.R36Q	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3	134						integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)												0.417722	91.343989	91.812814	33	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27640030	27640030	13798	17	G	A	A	37	37	RHBDL3	A	1	1
MYO1D	4642	broad.mit.edu	36	17	28131713	28131713	+	Missense_Mutation	SNP	T	G	G			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:28131713T>G	uc002hho.1	-	c.298A>C	c.(298-300)ATA>CTA	p.I100L	MYO1D_uc002hhp.1_Missense_Mutation_p.I100L	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	100	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.33121	169.25291	173.21328	52	105	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.0362)		Missense_Mutation	SNP	28131713	28131713	10466	17	T	G	G	50	50	MYO1D	G	4	4
SYNRG	11276	broad.mit.edu	36	17	32976546	32976546	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:32976546G>A	uc002hoa.1	-	c.2843C>T	c.(2842-2844)ACG>ATG	p.T948M	SYNRG_uc002hob.1_Missense_Mutation_p.T948M|SYNRG_uc002hoc.1_Missense_Mutation_p.T869M|SYNRG_uc002hod.1_Missense_Mutation_p.T825M|SYNRG_uc002hoe.1_Missense_Mutation_p.T870M|SYNRG_uc002hof.1_Missense_Mutation_p.T614M	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	AP1 gamma subunit binding protein 1 isoform 1	948					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2														0.427083	238.451164	239.3533	82	110	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32976546	32976546	15981	17	G	A	A	40	40	SYNRG	A	1	1
TCAP	8557	broad.mit.edu	36	17	35075188	35075188	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35075188G>A	uc002hsh.1	+	c.50G>A	c.(49-51)CGC>CAC	p.R17H	PNMT_uc002hsi.1_5'Flank	NM_003673	NP_003664	O15273	TELT_HUMAN	telethonin	17					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding				0	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)													0.429907	130.526872	130.986341	46	61	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		Missense_Mutation	SNP	35075188	35075188	16192	17	G	A	A	38	38	TCAP	A	1	1
TAX1BP3	30851	broad.mit.edu	36	17	3514729	3514729	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3514729G>A	uc002fwc.1	-	c.152C>T	c.(151-153)ACG>ATG	p.T51M	P2RX5_uc002fwd.1_Non-coding_Transcript|TAX1BP3_uc002fwe.1_Missense_Mutation_p.T51M	NM_014604	NP_055419	O14907	TX1B3_HUMAN	Tax1 (human T-cell leukemia virus type I)	51	PDZ.				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding				0														0.636364	135.465784	136.545749	42	24	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(5;0.0761)	Missense_Mutation	SNP	3514729	3514729	16117	17	G	A	A	40	40	TAX1BP3	A	1	1
GRB7	2886	broad.mit.edu	36	17	35155701	35155701	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35155701G>A	uc002hsr.1	+	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H	GRB7_uc002hss.1_Missense_Mutation_p.R427H|GRB7_uc010cwc.1_Missense_Mutation_p.R427H|GRB7_uc002hst.1_Intron	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	427					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration	cytosol	SH3/SH2 adaptor activity			lung(2)|ovary(1)	3	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)									187				0.374517	273.756778	277.318744	97	162	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		Missense_Mutation	SNP	35155701	35155701	7036	17	G	A	A	38	38	GRB7	A	1	1
NR1D1	9572	broad.mit.edu	36	17	35505395	35505395	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35505395C>T	uc002htz.1	-	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	NR1D1_uc010cwq.1_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	359					cellular response to lipopolysaccharide|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	promoter binding|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)													0.371134	100.87894	102.292412	36	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35505395	35505395	11020	17	C	T	T	27	27	NR1D1	T	1	1
NR1D1	9572	broad.mit.edu	36	17	35505565	35505565	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35505565G>A	uc002htz.1	-	c.906C>T	c.(904-906)TAC>TAT	p.Y302Y	NR1D1_uc010cwq.1_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	302					cellular response to lipopolysaccharide|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	promoter binding|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)													0.351351	70.111396	71.56054	26	48	GG		KEEP	---	---	---	---	capture			Silent	SNP	35505565	35505565	11020	17	G	A	A	40	40	NR1D1	A	1	1
KRT26	353288	broad.mit.edu	36	17	36181614	36181614	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36181614C>T	uc002hvf.1	-	c.278G>A	c.(277-279)CGC>CAC	p.R93H		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	93	Rod.|Coil 1A.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)												0.344828	190.689605	195.005582	70	133	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36181614	36181614	8778	17	C	T	T	27	27	KRT26	T	1	1
KRT32	3882	broad.mit.edu	36	17	36874114	36874114	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36874114G>A	uc002hwr.1	-	c.816C>T	c.(814-816)TAC>TAT	p.Y272Y		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	272	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)												0.419355	72.728598	73.082478	26	36	GG		KEEP	---	---	---	---	capture			Silent	SNP	36874114	36874114	8783	17	G	A	A	40	40	KRT32	A	1	1
KRT13	3860	broad.mit.edu	36	17	36914942	36914942	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36914942G>A	uc002hwu.1	-	c.387C>T	c.(385-387)AAC>AAT	p.N129N	KRT13_uc002hwv.1_Silent_p.N129N|KRT13_uc002hww.1_Silent_p.N22N|KRT13_uc010cxo.1_Silent_p.N129N|KRT13_uc002hwx.1_Silent_p.N117N	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	129	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|pancreas(1)	3		Breast(137;0.000286)												0.387755	162.047617	163.667756	57	90	GG		KEEP	---	---	---	---	capture			Silent	SNP	36914942	36914942	8765	17	G	A	A	40	40	KRT13	A	1	1
KRT19	3880	broad.mit.edu	36	17	36934012	36934012	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36934012G>A	uc002hxd.2	-	c.857C>T	c.(856-858)ACG>ATG	p.T286M	KRT15_uc002hxb.1_5'Flank	NM_002276	NP_002267	P08727	K1C19_HUMAN	keratin 19	286	Coil 2.|Rod.|Necessary for interaction with PNN.				interspecies interaction between organisms|response to estrogen stimulus|sarcomere organization	costamere|intermediate filament	protein binding|structural constituent of cytoskeleton|structural constituent of muscle				0		Breast(137;0.00038)												0.422222	112.96114	113.429123	38	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36934012	36934012	8771	17	G	A	A	40	40	KRT19	A	1	1
KRT14	3861	broad.mit.edu	36	17	36993602	36993602	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36993602C>T	uc002hxf.1	-	c.863G>A	c.(862-864)CGT>CAT	p.R288H	KRT14_uc010cxp.1_Missense_Mutation_p.R288H	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)												0.346715	266.150623	271.830046	95	179	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36993602	36993602	8766	17	C	T	T	19	19	KRT14	T	1	1
KRT16	3868	broad.mit.edu	36	17	37021224	37021224	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37021224G>A	uc002hxg.2	-	c.670C>T	c.(670-672)CGC>TGC	p.R224C		NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	224	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000307)												0.311927	85.664694	89.068672	34	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37021224	37021224	8768	17	G	A	A	38	38	KRT16	A	1	1
KLHL10	317719	broad.mit.edu	36	17	37255415	37255415	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37255415G>A	uc010cxr.1	+	c.1196G>A	c.(1195-1197)CGT>CAT	p.R399H		NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	399	Kelch 3.					cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)												0.237805	92.448908	102.74549	39	125	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37255415	37255415	8678	17	G	A	A	40	40	KLHL10	A	1	1
CAMKK1	84254	broad.mit.edu	36	17	3730442	3730442	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3730442G>A	uc002fwv.1	-	c.857C>T	c.(856-858)TCG>TTG	p.S286L	CAMKK1_uc002fwt.1_Missense_Mutation_p.S248L|CAMKK1_uc002fwu.1_Missense_Mutation_p.S248L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	248	Protein kinase.				protein phosphorylation|synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1										485				0.25	12.672937	13.804164	5	15	GG		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	Missense_Mutation	SNP	3730442	3730442	2723	17	G	A	A	37	37	CAMKK1	A	1	1
COASY	80347	broad.mit.edu	36	17	37970791	37970791	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:37970791G>A	uc010cyj.1	+	c.1410G>A	c.(1408-1410)ACG>ACA	p.T470T	COASY_uc002hzz.1_Silent_p.T441T|COASY_uc002iaa.1_Silent_p.T441T|COASY_uc002iab.1_Silent_p.T146T|COASY_uc002iad.1_Silent_p.T441T|COASY_uc002iac.1_Silent_p.T441T|COASY_uc002iae.1_Silent_p.T236T|MLX_uc002iaf.1_5'Flank|MLX_uc002iag.1_5'Flank|MLX_uc002iah.1_5'Flank	NM_025233	NP_079509	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	441	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)												0.319853	254.771138	262.592053	87	185	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.13)	Silent	SNP	37970791	37970791	3790	17	G	A	A	39	39	COASY	A	1	1
TUBG2	27175	broad.mit.edu	36	17	38068981	38068981	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38068981C>T	uc002iao.1	+	c.540C>T	c.(538-540)GAC>GAT	p.D180D	TUBG2_uc002iap.1_Silent_p.D27D|TUBG2_uc002iaq.1_Silent_p.D22D|TUBG2_uc002iar.1_Silent_p.D27D|TUBG2_uc002ias.1_Silent_p.D22D	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	180					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)												0.336323	206.763203	212.044796	75	148	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.141)	Silent	SNP	38068981	38068981	17320	17	C	T	T	19	19	TUBG2	T	1	1
NBR1	4077	broad.mit.edu	36	17	38595332	38595332	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38595332C>T	uc002idj.1	+	c.682C>T	c.(682-684)CGC>TGC	p.R228C	NBR1_uc002idk.1_Missense_Mutation_p.R228C|NBR1_uc002idl.1_Missense_Mutation_p.R228C|NBR1_uc010czd.1_5'Flank|NBR1_uc002idm.1_5'Flank	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	228	ZZ-type.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)												0.346715	278.756058	284.433159	95	179	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.0934)	Missense_Mutation	SNP	38595332	38595332	10599	17	C	T	T	23	23	NBR1	T	1	1
HDAC5	10014	broad.mit.edu	36	17	39525178	39525178	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39525178G>A	uc002iff.1	-	c.923C>T	c.(922-924)GCG>GTG	p.A308V	HDAC5_uc002ifd.1_Missense_Mutation_p.A307V|HDAC5_uc002ife.1_Missense_Mutation_p.A307V|HDAC5_uc010czp.1_Missense_Mutation_p.A307V|HDAC5_uc002ifh.1_5'Flank	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 3	307					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of myotube differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)												0.276596	62.830092	67.041001	26	68	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.118)	Missense_Mutation	SNP	39525178	39525178	7293	17	G	A	A	38	38	HDAC5	A	1	1
GPATCH8	23131	broad.mit.edu	36	17	39832252	39832252	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39832252G>A	uc002igw.1	-	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	GPATCH8_uc002igv.1_Missense_Mutation_p.R829C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	907	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)	3		Prostate(33;0.0181)												0.358333	120.909083	123.022204	43	77	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.206)	Missense_Mutation	SNP	39832252	39832252	6868	17	G	A	A	38	38	GPATCH8	A	1	1
PLCD3	113026	broad.mit.edu	36	17	40551300	40551300	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40551300C>T	uc002iib.1	-	c.999G>A	c.(997-999)ACG>ACA	p.T333T		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	333					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)									0.410256	137.178813	138.001331	48	69	CC		KEEP	---	---	---	---	capture			Silent	SNP	40551300	40551300	12458	17	C	T	T	19	19	PLCD3	T	1	1
ARHGAP27	201176	broad.mit.edu	36	17	40829261	40829261	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:40829261G>A	uc002iix.1	-	c.1234C>T	c.(1234-1236)CGC>TGC	p.R412C	ARHGAP27_uc010dak.1_Missense_Mutation_p.R385C	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	753	Rho-GAP.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)													0.382812	139.134451	140.678603	49	79	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40829261	40829261	888	17	G	A	A	38	38	ARHGAP27	A	1	1
NXPH3	11248	broad.mit.edu	36	17	45011459	45011459	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45011459G>A	uc002ipa.1	+	c.557G>A	c.(556-558)CGC>CAC	p.R186H		NM_007225	NP_009156	O95157	NXPH3_HUMAN	neurexophilin 3	186	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				pancreas(1)	1	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)													0.42515	198.119356	198.928093	71	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45011459	45011459	11197	17	G	A	A	38	38	NXPH3	A	1	1
SGCA	6442	broad.mit.edu	36	17	45600783	45600783	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:45600783G>A	uc002iqi.1	+	c.435G>A	c.(433-435)GCG>GCA	p.A145A	SGCA_uc002iqj.1_Silent_p.A145A	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	145	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2														0.214286	7.017679	8.072742	3	11	GG		KEEP	---	---	---	---	capture			Silent	SNP	45600783	45600783	14690	17	G	A	A	39	39	SGCA	A	1	1
CACNA1G	8913	broad.mit.edu	36	17	46039278	46039278	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:46039278G>A	uc002irk.1	+	c.4441G>A	c.(4441-4443)GTT>ATT	p.V1481I	CACNA1G_uc002irj.1_Missense_Mutation_p.V1458I|CACNA1G_uc002irl.1_Missense_Mutation_p.V1458I|CACNA1G_uc002irm.1_Missense_Mutation_p.V1458I|CACNA1G_uc002irn.1_Missense_Mutation_p.V1458I|CACNA1G_uc002iro.1_Missense_Mutation_p.V1458I|CACNA1G_uc002irp.1_Missense_Mutation_p.V1481I|CACNA1G_uc002irq.1_Missense_Mutation_p.V1458I|CACNA1G_uc002irr.1_Missense_Mutation_p.V1481I|CACNA1G_uc002irs.1_Missense_Mutation_p.V1481I|CACNA1G_uc002irt.1_Missense_Mutation_p.V1481I|CACNA1G_uc002irv.1_Missense_Mutation_p.V1481I|CACNA1G_uc002irw.1_Missense_Mutation_p.V1458I|CACNA1G_uc002iru.1_Missense_Mutation_p.V1458I|CACNA1G_uc002irx.1_Missense_Mutation_p.V1394I|CACNA1G_uc002iry.1_Missense_Mutation_p.V1394I|CACNA1G_uc002irz.1_Missense_Mutation_p.V1394I|CACNA1G_uc002isa.1_Missense_Mutation_p.V1394I|CACNA1G_uc002isb.1_Missense_Mutation_p.V1394I|CACNA1G_uc002isc.1_Missense_Mutation_p.V1394I|CACNA1G_uc002isd.1_Missense_Mutation_p.V1394I|CACNA1G_uc002ise.1_Missense_Mutation_p.V1394I|CACNA1G_uc002isf.1_Missense_Mutation_p.V1394I|CACNA1G_uc002isg.1_Missense_Mutation_p.V1394I|CACNA1G_uc002ish.1_Missense_Mutation_p.V1394I|CACNA1G_uc002isi.1_Missense_Mutation_p.V1371I|CACNA1G_uc002isj.2_Missense_Mutation_p.V205I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1481	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)				Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.333333	52.40786	53.809166	19	38	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Missense_Mutation	SNP	46039278	46039278	2660	17	G	A	A	40	40	CACNA1G	A	1	1
CAMTA2	23125	broad.mit.edu	36	17	4813940	4813940	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4813940G>A	uc002gah.1	-	c.3170C>T	c.(3169-3171)ACG>ATG	p.T1057M	SPAG7_uc002gad.1_5'Flank|SPAG7_uc002gae.1_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.T1080M|CAMTA2_uc002gag.1_Missense_Mutation_p.T1056M|CAMTA2_uc002gai.1_Missense_Mutation_p.T1059M	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1057	IQ 1.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding|transcription regulator activity			ovary(1)	1														0.118227	27.859111	56.930536	24	179	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4813940	4813940	2731	17	G	A	A	40	40	CAMTA2	A	1	1
KIF1C	10749	broad.mit.edu	36	17	4867634	4867634	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4867634C>T	uc002gan.1	+	c.2776C>T	c.(2776-2778)CGG>TGG	p.R926W		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	926					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						Melanoma(96;1023 1447 10250 19259 33730)								0.131579	6.852532	11.862653	5	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4867634	4867634	8596	17	C	T	T	19	19	KIF1C	T	1	1
KIF2B	84643	broad.mit.edu	36	17	49255564	49255564	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:49255564G>A	uc002iua.2	+	c.171G>A	c.(169-171)ACG>ACA	p.T57T		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	57					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														0.427586	188.23888	188.898873	62	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	49255564	49255564	8609	17	G	A	A	39	39	KIF2B	A	1	1
MIS12	79003	broad.mit.edu	36	17	5333180	5333180	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5333180C>T	uc002gcd.1	+	c.274C>T	c.(274-276)CGT>TGT	p.R92C	DERL2_uc002gcc.1_5'Flank|MIS12_uc002gce.1_Missense_Mutation_p.R92C|MIS12_uc010clg.1_Missense_Mutation_p.R92C	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	MIS12 homolog	92					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding				0														0.671642	148.002246	149.758823	45	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5333180	5333180	9984	17	C	T	T	19	19	MIS12	T	1	1
BZRAP1	9256	broad.mit.edu	36	17	53748839	53748839	+	Missense_Mutation	SNP	G	A	A	rs61739511	unknown	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53748839G>A	uc002ivx.2	-	c.1934C>T	c.(1933-1935)GCG>GTG	p.A645V	BZRAP1_uc010dcs.1_Missense_Mutation_p.A585V	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	645						mitochondrion	benzodiazepine receptor binding				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.280374	77.018572	81.650094	30	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53748839	53748839	1611	17	G	A	A	38	38	BZRAP1	A	1	1
TEX14	56155	broad.mit.edu	36	17	54031758	54031758	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:54031758G>A	uc010dcz.1	-	c.1965C>T	c.(1963-1965)GAC>GAT	p.D655D	TEX14_uc002iwr.1_Silent_p.D649D|TEX14_uc002iws.1_Silent_p.D649D|TEX14_uc010dda.1_Silent_p.D429D	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	655					protein phosphorylation	cytoplasm	ATP binding|protein kinase activity			stomach(4)|ovary(3)|large_intestine(1)|lung(1)|skin(1)|pancreas(1)	11	Medulloblastoma(34;0.127)|all_neural(34;0.237)									598				0.361233	232.18898	236.035563	82	145	GG		KEEP	---	---	---	---	capture			Silent	SNP	54031758	54031758	16305	17	G	A	A	40	40	TEX14	A	1	1
TBX4	9496	broad.mit.edu	36	17	56912305	56912305	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56912305G>A	uc010ddo.1	+	c.864G>A	c.(862-864)CCG>CCA	p.P288P	TBX4_uc002izi.1_Silent_p.P288P	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	288					leg morphogenesis|regulation of transcription, DNA-dependent|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1														0.29798	164.449825	171.672476	59	139	GG		KEEP	---	---	---	---	capture			Silent	SNP	56912305	56912305	16186	17	G	A	A	39	39	TBX4	A	1	1
INTS2	57508	broad.mit.edu	36	17	57301494	57301494	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:57301494C>T	uc002izn.1	-	c.3084G>A	c.(3082-3084)ACG>ACA	p.T1028T	INTS2_uc002izm.1_Silent_p.T1020T	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1028					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3														0.409091	27.671993	27.830496	9	13	CC		KEEP	---	---	---	---	capture			Silent	SNP	57301494	57301494	8079	17	C	T	T	23	23	INTS2	T	1	1
SCN4A	6329	broad.mit.edu	36	17	59403507	59403507	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59403507G>A	uc002jds.1	-	c.329C>T	c.(328-330)GCT>GTT	p.A110V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	110					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.4	60.288025	60.725895	20	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59403507	59403507	14402	17	G	A	A	34	34	SCN4A	A	2	2
CCDC45	90799	broad.mit.edu	36	17	59963281	59963281	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59963281C>T	uc002jem.1	+	c.2170C>T	c.(2170-2172)CGC>TGC	p.R724C	CCDC45_uc002jen.1_Non-coding_Transcript	NM_138363	NP_612372	Q96GE4	CCD45_HUMAN	coiled-coil domain containing 45	724	Potential.						protein binding			ovary(1)	1	Breast(5;1.32e-14)													0.364486	109.178139	110.913341	39	68	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		Missense_Mutation	SNP	59963281	59963281	2939	17	C	T	T	19	19	CCDC45	T	1	1
ABCA6	23460	broad.mit.edu	36	17	64588850	64588850	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64588850C>T	uc002jhw.1	-	c.4648G>A	c.(4648-4650)GTG>ATG	p.V1550M		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1550					transport	integral to membrane	ATP binding|ATPase activity			large_intestine(2)|ovary(2)	4	Breast(10;5.65e-12)													0.403061	232.488897	234.097972	79	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64588850	64588850	37	17	C	T	T	19	19	ABCA6	T	1	1
ABCA10	10349	broad.mit.edu	36	17	64683184	64683184	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64683184G>A	uc010dfa.1	-	c.2835C>T	c.(2833-2835)TGC>TGT	p.C945C		NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	945	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.261538	88.599299	95.283194	34	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	64683184	64683184	30	17	G	A	A	38	38	ABCA10	A	1	1
BTBD17	388419	broad.mit.edu	36	17	69864576	69864576	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:69864576G>A	uc002jkn.1	-	c.1252C>T	c.(1252-1254)CGC>TGC	p.R418C		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	418						extracellular region					0														0.714286	13.471052	13.757578	5	2	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69864576	69864576	1574	17	G	A	A	38	38	BTBD17	A	1	1
LLGL2	3993	broad.mit.edu	36	17	71072138	71072138	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71072138C>T	uc002joh.1	+	c.991C>T	c.(991-993)CGT>TGT	p.R331C	LLGL2_uc002jog.1_Missense_Mutation_p.R331C|LLGL2_uc010dgf.1_Missense_Mutation_p.R331C|LLGL2_uc002joi.1_Missense_Mutation_p.R331C|LLGL2_uc010dgg.1_Missense_Mutation_p.R331C|LLGL2_uc002joj.1_Missense_Mutation_p.R320C	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	331					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)													0.31746	57.278303	59.144186	20	43	CC		KEEP	---	---	---	---	capture	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		Missense_Mutation	SNP	71072138	71072138	9163	17	C	T	T	23	23	LLGL2	T	1	1
FBF1	85302	broad.mit.edu	36	17	71422550	71422550	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71422550C>T	uc002jqc.2	-	c.2642G>A	c.(2641-2643)CGC>CAC	p.R881H	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc002jqb.2_Non-coding_Transcript|FBF1_uc010dgr.1_Missense_Mutation_p.R192H	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	881											0														0.571429	42.504529	42.631606	16	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71422550	71422550	5931	17	C	T	T	27	27	FBF1	T	1	1
EXOC7	23265	broad.mit.edu	36	17	71591360	71591360	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71591360G>A	uc002jqs.1	-	c.2172C>T	c.(2170-2172)GGC>GGT	p.G724G	EXOC7_uc002jqp.1_Missense_Mutation_p.A186V|EXOC7_uc010dgv.1_Silent_p.G598G|EXOC7_uc002jqq.1_Silent_p.G673G|EXOC7_uc002jqr.1_Silent_p.G642G	NM_015219	NP_001013861	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 2	724					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0														0.355705	129.618278	132.356913	53	96	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(166;0.187)		Silent	SNP	71591360	71591360	5503	17	G	A	A	38	38	EXOC7	A	1	1
SPHK1	8877	broad.mit.edu	36	17	71894942	71894942	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71894942C>T	uc002jrj.1	+	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C	SPHK1_uc002jrf.1_Missense_Mutation_p.R279C|SPHK1_uc002jrg.1_Missense_Mutation_p.R228C|SPHK1_uc002jrh.1_Missense_Mutation_p.R293C|SPHK1_uc002jri.1_Missense_Mutation_p.R279C|SPHK1_uc002jrk.2_Missense_Mutation_p.R279C	NM_182965	NP_892010	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 2	279					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GBM(90;966 1307 27369 33775 44498)								0.357143	47.014692	47.769104	15	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71894942	71894942	15558	17	C	T	T	23	23	SPHK1	T	1	1
UBE2O	63893	broad.mit.edu	36	17	71898823	71898823	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71898823G>A	uc002jrm.2	-	c.3675C>T	c.(3673-3675)GAC>GAT	p.D1225D	UBE2O_uc002jrl.2_Silent_p.D829D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1225					post-translational protein modification		ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5									p.D829D(SF126-Tumor)	583				0.342105	138.451076	141.800512	52	100	GG		KEEP	---	---	---	---	capture			Silent	SNP	71898823	71898823	17425	17	G	A	A	40	40	UBE2O	A	1	1
ST6GALNAC1	55808	broad.mit.edu	36	17	72134067	72134067	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72134067G>A	uc002jsh.1	-	c.1314C>T	c.(1312-1314)GAC>GAT	p.D438D	ST6GALNAC1_uc002jsi.1_Silent_p.D306D|ST6GALNAC1_uc002jsj.1_Intron	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	GalNAc alpha-2, 6-sialyltransferase I	438	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0														0.42029	84.661922	85.04471	29	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	72134067	72134067	15741	17	G	A	A	40	40	ST6GALNAC1	A	1	1
SEC14L1	6397	broad.mit.edu	36	17	72702498	72702498	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:72702498G>A	uc010dhc.1	+	c.619G>A	c.(619-621)GTC>ATC	p.V207I	SEC14L1_uc002jtm.1_Missense_Mutation_p.V207I|SEC14L1_uc002jtn.1_Non-coding_Transcript|SEC14L1_uc002jto.1_Missense_Mutation_p.V207I|SEC14L1_uc002jtp.1_Missense_Mutation_p.V207I	NM_001039573	NP_001034662	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform b	207					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2														0.342222	213.22249	218.163768	77	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72702498	72702498	14467	17	G	A	A	40	40	SEC14L1	A	1	1
SEPT9	10801	broad.mit.edu	36	17	73006264	73006264	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73006264C>T	uc002jts.2	+	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C	SEPT9_uc002jtt.2_Missense_Mutation_p.R400C|SEPT9_uc002jtu.2_Missense_Mutation_p.R546C|SEPT9_uc002jtv.1_Missense_Mutation_p.R557C|SEPT9_uc002jtw.1_Missense_Mutation_p.R400C|SEPT9_uc002jty.2_Missense_Mutation_p.R313C|SEPT9_uc010dhd.1_Missense_Mutation_p.R452C	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	564					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			ovary(1)	1										329				0.333333	8.1236	8.344206	3	6	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.153)		Missense_Mutation	SNP	73006264	73006264	14557	17	C	T	T	27	27	SEPT9	T	1	1
TMC6	11322	broad.mit.edu	36	17	73624983	73624983	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:73624983G>A	uc002juj.1	-	c.2239C>T	c.(2239-2241)CGC>TGC	p.R747C	TMC6_uc002jui.1_Missense_Mutation_p.R326C|TMC6_uc010dhf.1_Missense_Mutation_p.R580C|TMC6_uc002juk.2_Missense_Mutation_p.R747C|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.R747C	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	747	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0														0.45	184.849788	185.146794	63	77	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		Missense_Mutation	SNP	73624983	73624983	16519	17	G	A	A	38	38	TMC6	A	1	1
FXR2	9513	broad.mit.edu	36	17	7436335	7436335	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7436335G>A	uc002gia.1	-	c.1888C>T	c.(1888-1890)CGC>TGC	p.R630C	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	630						cytosolic large ribosomal subunit	protein binding|RNA binding	p.0?(1)			0														0.128378	24.651776	44.555651	19	129	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(115;0.17)	Missense_Mutation	SNP	7436335	7436335	6367	17	G	A	A	40	40	FXR2	A	1	1
TP53	7157	broad.mit.edu	36	17	7519131	7519131	+	Missense_Mutation	SNP	C	T	T	rs28934578	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7519131C>T	uc002gim.2	-	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.1_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R175H(709)|p.R175L(19)|p.0?(6)|p.R175P(5)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(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)				Pancreas(47;798 1329 9957 10801)	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	p.R175L(LS123-Tumor)|p.R175L(VMRCLCD-Tumor)|p.R175L(DETROIT562-Tumor)|p.R175L(KMS26-Tumor)|p.R175L(KLE-Tumor)|p.R175L(SNU245-Tumor)|p.R175L(SKBR3-Tumor)|p.R175L(RKN-Tumor)|p.R174fs(THP1-Tumor)|p.R175L(HCC1395-Tumor)|p.R175L(VMCUB1-Tumor)|p.R175L(RT11284-Tumor)|p.R175L(AU565-Tumor)|p.R175L(SKUT1-Tumor)|p.R175L(HS571.T-Tumor)|p.R175L(HUCCT1-Tumor)|p.R175L(TYKNU-Tumor)|p.R175L(LMSU-Tumor)|p.R175L(CAL33-Tumor)|p.R175L(SNU1197-Tumor)|p.R175L(NCIH196-Tumor)|p.R175H(HCC44-Tumor)|p.R175L(OPM2-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.531915	74.375206	74.416734	25	22	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7519131	7519131	16923	17	C	T	T	27	27	TP53	T	1	1
DNAH2	146754	broad.mit.edu	36	17	7578623	7578623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578623C>T	uc002giu.1	+	c.850C>T	c.(850-852)CGA>TGA	p.R284*	DNAH2_uc002git.2_Nonsense_Mutation_p.R284*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	284	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.589744	76.631578	76.906142	23	16	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	7578623	7578623	4785	17	C	T	T	23	23	DNAH2	T	5	1
RNF213	57674	broad.mit.edu	36	17	75936099	75936099	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75936099C>T	uc002jyh.1	+	c.3588C>T	c.(3586-3588)CTC>CTT	p.L1196L		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	12	all_neural(118;0.0538)													0.330709	113.807444	117.032768	42	85	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		Silent	SNP	75936099	75936099	13955	17	C	T	T	31	31	RNF213	T	1	1
RNF213	57674	broad.mit.edu	36	17	75936529	75936529	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75936529G>A	uc002jyh.1	+	c.4018G>A	c.(4018-4020)GTG>ATG	p.V1340M		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	12	all_neural(118;0.0538)													0.373737	104.65065	106.036287	37	62	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		Missense_Mutation	SNP	75936529	75936529	13955	17	G	A	A	40	40	RNF213	A	1	1
RNF213	57674	broad.mit.edu	36	17	75972124	75972124	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75972124G>A	uc002jyh.1	+	c.8342G>A	c.(8341-8343)CGT>CAT	p.R2781H	RNF213_uc010dhx.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	12	all_neural(118;0.0538)													0.421769	182.222728	183.008222	62	85	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		Missense_Mutation	SNP	75972124	75972124	13955	17	G	A	A	40	40	RNF213	A	1	1
AATK	9625	broad.mit.edu	36	17	76711215	76711215	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:76711215G>A	uc010dia.1	-	c.1116C>T	c.(1114-1116)TAC>TAT	p.Y372Y	AATK_uc010dhz.1_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	372	Protein kinase.				protein phosphorylation	integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|lung(1)	5	all_neural(118;0.101)									507				0.333333	10.995669	11.291042	4	8	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		Silent	SNP	76711215	76711215	27	17	G	A	A	40	40	AATK	A	1	1
SLC38A10	124565	broad.mit.edu	36	17	76870676	76870676	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:76870676C>T	uc002jzz.1	-	c.409G>A	c.(409-411)GTG>ATG	p.V137M	SLC38A10_uc002jzy.1_Missense_Mutation_p.V55M|SLC38A10_uc002kab.1_Missense_Mutation_p.V137M	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	137	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				pancreas(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)													0.346939	47.162209	48.174647	17	32	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		Missense_Mutation	SNP	76870676	76870676	15099	17	C	T	T	19	19	SLC38A10	T	1	1
KDM6B	23135	broad.mit.edu	36	17	7692345	7692345	+	Missense_Mutation	SNP	G	C	C			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7692345G>C	uc002giw.1	+	c.2014G>C	c.(2014-2016)GAT>CAT	p.D672H	KDM6B_uc002gix.2_5'UTR	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	jumonji domain containing 3, histone lysine	672	Pro-rich.				inflammatory response|oxidation-reduction process	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			pancreas(1)	1														0.372881	217.708301	220.219421	66	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7692345	7692345	8444	17	G	C	C	45	45	KDM6B	C	3	3
CHD3	1107	broad.mit.edu	36	17	7737334	7737334	+	Missense_Mutation	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7737334T>C	uc002gjd.2	+	c.650T>C	c.(649-651)CTA>CCA	p.L217P	CHD3_uc002gje.2_Missense_Mutation_p.L172P|CHD3_uc002gjf.2_Missense_Mutation_p.L172P|CHD3_uc002gjg.1_Missense_Mutation_p.L4P	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	172					chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)												0.315789	19.743569	20.316784	6	13	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7737334	7737334	3460	17	T	C	C	53	53	CHD3	C	4	4
DUS1L	64118	broad.mit.edu	36	17	77616053	77616053	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77616053C>T	uc002kdq.1	-	c.172G>A	c.(172-174)GCC>ACC	p.A58T	DUS1L_uc002kdp.1_5'Flank|DUS1L_uc002kdr.1_Missense_Mutation_p.A58T|DUS1L_uc002kds.1_Non-coding_Transcript|DUS1L_uc002kdt.1_Non-coding_Transcript	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	58					oxidation-reduction process|tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)													0.373984	128.499577	130.182883	46	77	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		Missense_Mutation	SNP	77616053	77616053	4990	17	C	T	T	27	27	DUS1L	T	1	1
SECTM1	6398	broad.mit.edu	36	17	77874065	77874065	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77874065C>T	uc002keo.1	-	c.515G>A	c.(514-516)CGC>CAC	p.R172H	SECTM1_uc002ken.1_Missense_Mutation_p.R170H|SECTM1_uc002kep.1_Missense_Mutation_p.A137T	NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1 precursor	172	Cytoplasmic (Potential).				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)													0.285714	41.58443	43.887494	16	40	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		Missense_Mutation	SNP	77874065	77874065	14494	17	C	T	T	27	27	SECTM1	T	1	1
FOXK2	3607	broad.mit.edu	36	17	78138281	78138281	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:78138281C>T	uc002kfn.1	+	c.1630C>T	c.(1630-1632)CGG>TGG	p.R544W	FOXK2_uc002kfm.1_Missense_Mutation_p.R544W|FOXK2_uc010diu.1_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	forkhead box K2	544					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(20;0.00106)|all_neural(118;0.0952)													0.4	154.967768	156.10594	52	78	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		Missense_Mutation	SNP	78138281	78138281	6261	17	C	T	T	23	23	FOXK2	T	1	1
ALOX15B	247	broad.mit.edu	36	17	7891044	7891044	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7891044G>A	uc002gju.1	+	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q	ALOX15B_uc002gjv.1_Missense_Mutation_p.R432Q|ALOX15B_uc002gjw.1_Missense_Mutation_p.R432Q|ALOX15B_uc010cnp.1_Missense_Mutation_p.R267Q	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	461	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|oxidation-reduction process|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1														0.622642	111.98774	112.687771	33	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7891044	7891044	542	17	G	A	A	39	39	ALOX15B	A	1	1
USP43	124739	broad.mit.edu	36	17	9520837	9520837	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9520837C>T	uc010cod.1	+	c.883C>T	c.(883-885)CGG>TGG	p.R295W	USP43_uc002gma.2_5'UTR|USP43_uc010coe.1_Missense_Mutation_p.R92W	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	295					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|central_nervous_system(1)	2														0.589744	71.231416	71.506258	23	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9520837	9520837	17638	17	C	T	T	27	27	USP43	T	1	1
DSC2	1824	broad.mit.edu	36	18	26903079	26903079	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:26903079C>T	uc002kwl.2	-	c.2287G>A	c.(2287-2289)GCT>ACT	p.A763T	DSC2_uc002kwk.2_Missense_Mutation_p.A763T	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	763	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(1)	1														0.28	73.586858	77.920617	28	72	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		Missense_Mutation	SNP	26903079	26903079	4950	18	C	T	T	27	27	DSC2	T	1	1
EMILIN2	84034	broad.mit.edu	36	18	2881557	2881557	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:2881557G>A	uc002kln.1	+	c.1432G>A	c.(1432-1434)GCC>ACC	p.A478T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	478					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			ovary(1)	1														0.321678	121.998105	126.037576	46	97	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.1)	Missense_Mutation	SNP	2881557	2881557	5286	18	G	A	A	38	38	EMILIN2	A	1	1
FHOD3	80206	broad.mit.edu	36	18	32515470	32515470	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:32515470C>T	uc002kzs.1	+	c.1384C>T	c.(1384-1386)CGG>TGG	p.R462W	FHOD3_uc002kzr.1_Missense_Mutation_p.R462W|FHOD3_uc002kzt.1_Missense_Mutation_p.R462W|FHOD3_uc010dmz.1_Missense_Mutation_p.R177W	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	462	Potential.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.295082	44.526863	46.819547	18	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32515470	32515470	6121	18	C	T	T	27	27	FHOD3	T	1	1
DLGAP1	9229	broad.mit.edu	36	18	3869329	3869329	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:3869329G>A	uc002kmf.1	-	c.740C>T	c.(739-741)GCG>GTG	p.A247V	DLGAP1_uc002kmk.1_Missense_Mutation_p.A247V	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	247					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)												0.284091	63.639761	67.322578	25	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3869329	3869329	4739	18	G	A	A	38	38	DLGAP1	A	1	1
SETBP1	26040	broad.mit.edu	36	18	40784980	40784980	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:40784980G>A	uc010dni.1	+	c.1515G>A	c.(1513-1515)CCG>CCA	p.P505P	SETBP1_uc002laz.1_Silent_p.P505P	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	559						nucleus	DNA binding			large_intestine(1)	1														0.330961	244.803505	251.907095	93	188	GG		KEEP	---	---	---	---	capture		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	Silent	SNP	40784980	40784980	14617	18	G	A	A	40	40	SETBP1	A	1	1
KIAA1632	57724	broad.mit.edu	36	18	41735104	41735104	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:41735104G>A	uc002lbm.1	-	c.4501C>T	c.(4501-4503)CGG>TGG	p.R1501W	KIAA1632_uc002lbn.1_Missense_Mutation_p.R376W	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1501					autophagy						0														0.268657	45.120998	48.35724	18	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41735104	41735104	8558	18	G	A	A	38	38	KIAA1632	A	1	1
PIAS2	9063	broad.mit.edu	36	18	42724958	42724958	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:42724958G>A	uc002lck.1	-	c.82C>T	c.(82-84)CGG>TGG	p.R28W	PIAS2_uc010dnp.1_De_novo_Start_InFrame|PIAS2_uc002lcl.1_Missense_Mutation_p.R28W|PIAS2_uc002lcm.1_Missense_Mutation_p.R28W|PIAS2_uc002lcn.1_Missense_Mutation_p.R32W	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	28	SAP.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(1)	1														0.392473	212.434145	214.317072	73	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42724958	42724958	12300	18	G	A	A	40	40	PIAS2	A	1	1
ZBTB7C	201501	broad.mit.edu	36	18	43820490	43820490	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:43820490G>A	uc010dnv.1	-	c.1053C>T	c.(1051-1053)AAC>AAT	p.N351N	ZBTB7C_uc010dnw.1_Silent_p.N329N|ZBTB7C_uc010dny.1_Silent_p.N329N|ZBTB7C_uc010dnz.1_Silent_p.N351N|ZBTB7C_uc010doa.1_Silent_p.N351N|ZBTB7C_uc010dob.1_Silent_p.N329N|ZBTB7C_uc010doc.1_Silent_p.N338N|ZBTB7C_uc010dod.1_Silent_p.N351N|ZBTB7C_uc010doe.1_Silent_p.N329N|ZBTB7C_uc010dof.1_Silent_p.N329N|ZBTB7C_uc010dog.1_Silent_p.N329N|ZBTB7C_uc010doh.1_Silent_p.N338N|ZBTB7C_uc010doi.1_Silent_p.N329N|ZBTB7C_uc010doj.1_Silent_p.N338N|ZBTB7C_uc010dok.1_Silent_p.N378N|ZBTB7C_uc010dol.1_Silent_p.N338N|ZBTB7C_uc010dom.1_Silent_p.N338N|ZBTB7C_uc010don.1_Silent_p.N337N|ZBTB7C_uc010doo.1_Silent_p.N329N|ZBTB7C_uc010dop.1_Silent_p.N329N|ZBTB7C_uc010doq.1_Silent_p.N338N|ZBTB7C_uc010dor.1_Silent_p.N351N|ZBTB7C_uc010dos.1_Silent_p.N329N|ZBTB7C_uc010dot.1_Silent_p.N329N|ZBTB7C_uc010dou.1_Silent_p.N338N|ZBTB7C_uc002ldb.1_Silent_p.N329N|ZBTB7C_uc010dnu.1_Silent_p.N338N|ZBTB7C_uc010dnx.1_Silent_p.N329N|ZBTB7C_uc002lda.1_Silent_p.N329N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	329						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1														0.357724	122.364499	124.557818	44	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	43820490	43820490	18142	18	G	A	A	40	40	ZBTB7C	A	1	1
ZBTB7C	201501	broad.mit.edu	36	18	43821189	43821189	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:43821189C>T	uc010dnv.1	-	c.354G>A	c.(352-354)ACG>ACA	p.T118T	ZBTB7C_uc010dnw.1_Silent_p.T96T|ZBTB7C_uc010dny.1_Silent_p.T96T|ZBTB7C_uc010dnz.1_Silent_p.T118T|ZBTB7C_uc010doa.1_Silent_p.T118T|ZBTB7C_uc010dob.1_Silent_p.T96T|ZBTB7C_uc010doc.1_Silent_p.T105T|ZBTB7C_uc010dod.1_Silent_p.T118T|ZBTB7C_uc010doe.1_Silent_p.T96T|ZBTB7C_uc010dof.1_Silent_p.T96T|ZBTB7C_uc010dog.1_Silent_p.T96T|ZBTB7C_uc010doh.1_Silent_p.T105T|ZBTB7C_uc010doi.1_Silent_p.T96T|ZBTB7C_uc010doj.1_Silent_p.T105T|ZBTB7C_uc010dok.1_Silent_p.T145T|ZBTB7C_uc010dol.1_Silent_p.T105T|ZBTB7C_uc010dom.1_Silent_p.T105T|ZBTB7C_uc010don.1_Silent_p.T104T|ZBTB7C_uc010doo.1_Silent_p.T96T|ZBTB7C_uc010dop.1_Silent_p.T96T|ZBTB7C_uc010doq.1_Silent_p.T105T|ZBTB7C_uc010dor.1_Silent_p.T118T|ZBTB7C_uc010dos.1_Silent_p.T96T|ZBTB7C_uc010dot.1_Silent_p.T96T|ZBTB7C_uc010dou.1_Silent_p.T105T|ZBTB7C_uc002ldb.1_Silent_p.T96T|ZBTB7C_uc010dnu.1_Silent_p.T105T|ZBTB7C_uc010dnx.1_Silent_p.T96T|ZBTB7C_uc002lda.1_Silent_p.T96T	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	96	BTB.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1														0.34375	58.72871	60.109708	22	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	43821189	43821189	18142	18	C	T	T	27	27	ZBTB7C	T	1	1
DCC	1630	broad.mit.edu	36	18	49120234	49120234	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:49120234G>A	uc002lfe.1	+	c.2318G>A	c.(2317-2319)CGT>CAT	p.R773H	DCC_uc010dpf.1_Missense_Mutation_p.R428H	NM_005215	NP_005206	P43146	DCC_HUMAN	deleted in colorectal carcinoma	773	Extracellular (Potential).|Fibronectin type-III 4.				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)												0.326733	89.23844	91.928993	33	68	GG		KEEP	---	---	---	---	capture		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	Missense_Mutation	SNP	49120234	49120234	4453	18	G	A	A	40	40	DCC	A	1	1
ATP8B1	5205	broad.mit.edu	36	18	53472228	53472228	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:53472228G>A	uc002lgw.1	-	c.3009C>T	c.(3007-3009)CTC>CTT	p.L1003L		NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1003	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(4)|ovary(2)|central_nervous_system(2)	8		Colorectal(73;0.229)								950				0.328125	58.856436	60.531197	21	43	GG		KEEP	---	---	---	---	capture			Silent	SNP	53472228	53472228	1213	18	G	A	A	37	37	ATP8B1	A	1	1
EPB41L3	23136	broad.mit.edu	36	18	5413453	5413453	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:5413453C>T	uc002kmt.1	-	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	EPB41L3_uc002kmu.1_Silent_p.A421A|EPB41L3_uc010dkq.1_Silent_p.A312A|EPB41L3_uc010dkr.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	421	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.369231	66.680235	67.657933	24	41	CC		KEEP	---	---	---	---	capture			Silent	SNP	5413453	5413453	5347	18	C	T	T	19	19	EPB41L3	T	1	1
NEDD4L	23327	broad.mit.edu	36	18	54153714	54153714	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54153714C>T	uc002lgy.1	+	c.1090C>T	c.(1090-1092)CGT>TGT	p.R364C	NEDD4L_uc002lgx.1_Intron|NEDD4L_uc002lgz.1_Intron|NEDD4L_uc002lhb.1_Intron|NEDD4L_uc002lhc.1_Missense_Mutation_p.R356C|NEDD4L_uc002lhd.1_Missense_Mutation_p.R243C|NEDD4L_uc002lhe.1_Intron|NEDD4L_uc002lhf.1_Intron|NEDD4L_uc002lhg.1_Missense_Mutation_p.R243C|NEDD4L_uc002lhh.1_Intron|NEDD4L_uc010dpm.1_Intron	NM_015277	NP_056092	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	364					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity				0														0.357143	111.363751	113.379103	40	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54153714	54153714	10710	18	C	T	T	27	27	NEDD4L	T	1	1
ZNF532	55205	broad.mit.edu	36	18	54736871	54736871	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54736871G>A	uc002lho.1	+	c.372G>A	c.(370-372)TCG>TCA	p.S124S	ZNF532_uc002lhp.1_Silent_p.S122S|ZNF532_uc002lhq.1_Silent_p.S124S|ZNF532_uc002lhr.1_Silent_p.S122S|ZNF532_uc002lhs.1_Silent_p.S122S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1														0.307018	96.284892	100.068807	35	79	GG		KEEP	---	---	---	---	capture			Silent	SNP	54736871	54736871	18566	18	G	A	A	37	37	ZNF532	A	1	1
CDH20	28316	broad.mit.edu	36	18	57357344	57357344	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:57357344G>A	uc010dps.1	+	c.1516G>A	c.(1516-1518)GCC>ACC	p.A506T	CDH20_uc002lif.2_Missense_Mutation_p.A500T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	506	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)												0.268398	160.946406	172.131909	62	169	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57357344	57357344	3235	18	G	A	A	38	38	CDH20	A	1	1
CDH20	28316	broad.mit.edu	36	18	57368421	57368421	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:57368421G>A	uc010dps.1	+	c.1879G>A	c.(1879-1881)GCC>ACC	p.A627T	CDH20_uc002lif.2_Missense_Mutation_p.A621T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	627	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)												0.181818	32.884706	41.225774	16	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57368421	57368421	3235	18	G	A	A	38	38	CDH20	A	1	1
SERPINB10	5273	broad.mit.edu	36	18	59748323	59748323	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59748323C>T	uc010dqi.1	+	c.555C>T	c.(553-555)AAC>AAT	p.N185N	SERPINB10_uc002ljr.1_Silent_p.N185N	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	185						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity			lung(1)|kidney(1)	2		Esophageal squamous(42;0.131)												0.796875	331.705521	342.182528	102	26	CC		KEEP	---	---	---	---	capture			Silent	SNP	59748323	59748323	14585	18	C	T	T	19	19	SERPINB10	T	1	1
L3MBTL4	91133	broad.mit.edu	36	18	6301561	6301561	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:6301561C>T	uc002kmz.2	-	c.64G>A	c.(64-66)GGA>AGA	p.G22R	L3MBTL4_uc010dkt.1_Missense_Mutation_p.G22R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	22					chromatin modification|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		Colorectal(10;0.0249)				Esophageal Squamous(41;748 902 17366 28959 43175)								0.343529	438.053016	447.229548	146	279	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6301561	6301561	8917	18	C	T	T	23	23	L3MBTL4	T	1	1
SOCS6	9306	broad.mit.edu	36	18	66143262	66143262	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:66143262G>A	uc002lkr.1	+	c.378G>A	c.(376-378)TCG>TCA	p.S126S	SOCS6_uc010dqq.1_Silent_p.S126S	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	126					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)	1		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				Melanoma(84;1024 1361 24382 36583 42651)								0.484848	91.534234	91.545077	32	34	GG		KEEP	---	---	---	---	capture			Silent	SNP	66143262	66143262	15418	18	G	A	A	38	38	SOCS6	A	1	1
CYB5A	1528	broad.mit.edu	36	18	70071821	70071821	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:70071821C>T	uc002lli.1	-	c.383G>A	c.(382-384)CGC>CAC	p.R128H	CYB5A_uc002llh.1_3'UTR	NM_148923	NP_683725	P00167	CYB5_HUMAN	cytochrome b-5 isoform 1	128	Helical; (Potential).				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding				0		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	NSCLC(176;1530 2076 2606 27426 50572)|Ovarian(151;328 1870 2837 37860 52175)								0.387755	53.71302	54.254163	19	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70071821	70071821	4287	18	C	T	T	27	27	CYB5A	T	1	1
ZNF516	9658	broad.mit.edu	36	18	72282827	72282827	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:72282827G>A	uc010dqx.1	-	c.1172C>T	c.(1171-1173)CCG>CTG	p.P391L	ZNF516_uc002lme.2_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)												0.625	15.276245	15.385853	5	3	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	Missense_Mutation	SNP	72282827	72282827	18554	18	G	A	A	39	39	ZNF516	A	1	1
ATP9B	374868	broad.mit.edu	36	18	75205295	75205295	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75205295C>T	uc002lmx.1	+	c.2425C>T	c.(2425-2427)CGA>TGA	p.R809*	ATP9B_uc002lmw.1_Nonsense_Mutation_p.R809*|ATP9B_uc002lmz.1_Nonsense_Mutation_p.R503*|ATP9B_uc002lna.1_5'UTR|ATP9B_uc002lnb.1_5'Flank	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	809	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)												0.283582	50.397476	53.215235	19	48	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	Nonsense_Mutation	SNP	75205295	75205295	1218	18	C	T	T	31	31	ATP9B	T	5	1
TXNL4A	10907	broad.mit.edu	36	18	75834732	75834732	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:75834732G>A	uc002lnp.1	-	c.370C>T	c.(370-372)CGC>TGC	p.R124C	TXNL4A_uc010drg.1_Missense_Mutation_p.R53C|TXNL4A_uc002lnr.1_3'UTR|TXNL4A_uc002lnq.1_Non-coding_Transcript|TXNL4A_uc010drf.1_Non-coding_Transcript	NM_006701	NP_006692	P83876	TXN4A_HUMAN	thioredoxin-like 4A	124					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding				0		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)				Ovarian(160;2333 2597 11821 36245)								0.354651	177.624704	180.827373	61	111	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)	Missense_Mutation	SNP	75834732	75834732	17361	18	G	A	A	39	39	TXNL4A	A	1	1
ABCA7	10347	broad.mit.edu	36	19	1007389	1007389	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1007389G>A	uc002lqw.2	+	c.4477G>A	c.(4477-4479)GCA>ACA	p.A1493T	ABCA7_uc002lqy.1_5'Flank|ABCA7_uc010dsc.1_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1493	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)												0.490909	77.418734	77.422736	27	28	GG		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	1007389	1007389	38	19	G	A	A	38	38	ABCA7	A	1	1
CDC37	11140	broad.mit.edu	36	19	10367695	10367695	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10367695C>T	uc002mof.1	-	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.R96Q|CDC37_uc002moh.1_Missense_Mutation_p.R96Q	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	96					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0														0.334694	236.476377	242.399934	82	163	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	Missense_Mutation	SNP	10367695	10367695	3196	19	C	T	T	23	23	CDC37	T	1	1
KRI1	65095	broad.mit.edu	36	19	10532868	10532868	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10532868G>A	uc002moy.1	-	c.580C>T	c.(580-582)CGT>TGT	p.R194C	KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Missense_Mutation_p.R190C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	194	Glu-rich.									ovary(1)	1														0.31405	100.632122	104.341534	38	83	GG		KEEP	---	---	---	---	capture	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		Missense_Mutation	SNP	10532868	10532868	8759	19	G	A	A	40	40	KRI1	A	1	1
QTRT1	81890	broad.mit.edu	36	19	10684284	10684284	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10684284G>A	uc002mpr.1	+	c.841G>A	c.(841-843)GTC>ATC	p.V281I	DNM2_uc010dxk.1_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	281					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity				0														0.491803	269.943271	269.953896	90	93	GG		KEEP	---	---	---	---	capture	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		Missense_Mutation	SNP	10684284	10684284	13343	19	G	A	A	40	40	QTRT1	A	1	1
DNM2	1785	broad.mit.edu	36	19	10731428	10731428	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10731428G>A	uc002mps.1	+	c.176G>A	c.(175-177)CGC>CAC	p.R59H	DNM2_uc010dxk.1_Non-coding_Transcript|DNM2_uc002mpt.1_Missense_Mutation_p.R59H|DNM2_uc002mpu.1_Missense_Mutation_p.R59H|DNM2_uc002mpv.1_Missense_Mutation_p.R59H|DNM2_uc010dxl.1_Missense_Mutation_p.R59H	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	59					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|post-Golgi vesicle-mediated transport|receptor internalization|regulation of transcription, DNA-dependent|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding|motor activity|transcription activator activity			central_nervous_system(2)|ovary(1)|breast(1)	4														0.331412	309.639732	318.362418	115	232	GG		KEEP	---	---	---	---	capture	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		Missense_Mutation	SNP	10731428	10731428	4855	19	G	A	A	38	38	DNM2	A	1	1
YIPF2	78992	broad.mit.edu	36	19	10894988	10894988	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:10894988C>T	uc002mqb.1	-	c.930G>A	c.(928-930)CCG>CCA	p.P310P	YIPF2_uc002mqc.1_Silent_p.P310P	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	310	Lumenal (Potential).					integral to membrane|transport vesicle					0														0.394958	133.812271	134.956882	47	72	CC		KEEP	---	---	---	---	capture			Silent	SNP	10894988	10894988	18061	19	C	T	T	27	27	YIPF2	T	1	1
SMARCA4	6597	broad.mit.edu	36	19	11005853	11005853	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11005853G>A	uc010dxo.1	+	c.3928G>A	c.(3928-3930)GAG>AAG	p.E1310K	SMARCA4_uc002mqf.2_Missense_Mutation_p.E1310K|SMARCA4_uc010dxp.1_Missense_Mutation_p.E1310K|SMARCA4_uc010dxq.1_Missense_Mutation_p.E1277K|SMARCA4_uc010dxr.1_Missense_Mutation_p.E1277K|SMARCA4_uc002mqj.2_Missense_Mutation_p.E1277K|SMARCA4_uc010dxs.1_Missense_Mutation_p.E1277K|SMARCA4_uc002mqh.2_Missense_Mutation_p.E400K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E497K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E480K	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1310					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity	p.E1310*(2)|p.?(1)		lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.422222	114.245599	114.717773	38	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11005853	11005853	15268	19	G	A	A	37	37	SMARCA4	A	1	1
ZNF136	7695	broad.mit.edu	36	19	12159079	12159079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12159079C>T	uc002mti.1	+	c.886C>T	c.(886-888)CGA>TGA	p.R296*		NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	296	C2H2-type 6.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|specific RNA polymerase II transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.295918	78.236953	81.887654	29	69	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	12159079	12159079	18317	19	C	T	T	19	19	ZNF136	T	5	1
MAN2B1	4125	broad.mit.edu	36	19	12628773	12628773	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12628773G>A	uc002mub.2	-	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	MAN2B1_uc010dyv.1_Missense_Mutation_p.T505M	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	506					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6														0.441176	45.22119	45.323521	15	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12628773	12628773	9599	19	G	A	A	40	40	MAN2B1	A	1	1
HOOK2	29911	broad.mit.edu	36	19	12739648	12739648	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12739648G>A	uc002muy.2	-	c.1285C>T	c.(1285-1287)CGG>TGG	p.R429W	HOOK2_uc002muz.2_Missense_Mutation_p.R429W	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	429	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)	2														0.391304	51.139951	51.615681	18	28	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12739648	12739648	7575	19	G	A	A	38	38	HOOK2	A	1	1
RAD23A	5886	broad.mit.edu	36	19	12920918	12920918	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12920918G>A	uc002mvw.1	+	c.624G>A	c.(622-624)CCG>CCA	p.P208P	RAD23A_uc002mvx.1_Silent_p.P208P|RAD23A_uc002mvy.1_Silent_p.P43P|RAD23A_uc002mvz.1_Silent_p.P208P|RAD23A_uc002mwa.1_Silent_p.P208P	NM_005053	NP_005044	P54725	RD23A_HUMAN	UV excision repair protein RAD23 homolog A	208					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)	1														0.444444	36.798657	36.870836	12	15	GG		KEEP	---	---	---	---	capture			Silent	SNP	12920918	12920918	13442	19	G	A	A	39	39	RAD23A	A	1	1
CCDC130	81576	broad.mit.edu	36	19	13734705	13734705	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13734705G>A	uc002mxb.1	+	c.1014G>A	c.(1012-1014)CCG>CCA	p.P338P	CCDC130_uc002mxc.1_Silent_p.P338P|CCDC130_uc002mxd.1_Silent_p.P193P|CCDC130_uc010dzf.1_Silent_p.P232P|MRI1_uc002mxe.1_5'Flank|MRI1_uc002mxf.1_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	coiled-coil domain containing 130	338					response to virus		protein binding				0														0.4	19.88739	20.064354	8	12	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		Silent	SNP	13734705	13734705	2886	19	G	A	A	39	39	CCDC130	A	1	1
MRI1	84245	broad.mit.edu	36	19	13743960	13743960	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13743960C>T	uc002mxe.1	+	c.975C>T	c.(973-975)TTC>TTT	p.F325F	MRI1_uc002mxf.1_Silent_p.F278F|C19orf53_uc002mxg.1_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	325					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity				0														0.403101	156.475238	157.533939	52	77	CC		KEEP	---	---	---	---	capture			Silent	SNP	13743960	13743960	10163	19	C	T	T	31	31	MRI1	T	1	1
ASF1B	55723	broad.mit.edu	36	19	14093379	14093379	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14093379G>A	uc002mye.1	-	c.367C>T	c.(367-369)CGT>TGT	p.R123C		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	123	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus					0														0.393443	137.096463	138.301005	48	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14093379	14093379	1057	19	G	A	A	38	38	ASF1B	A	1	1
LPHN1	22859	broad.mit.edu	36	19	14123327	14123327	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14123327G>A	uc002myg.1	-	c.3783C>T	c.(3781-3783)CCC>CCT	p.P1261P	LPHN1_uc002myh.1_Silent_p.P1256P	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1261	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.369048	89.572149	90.810153	31	53	GG		KEEP	---	---	---	---	capture			Silent	SNP	14123327	14123327	9288	19	G	A	A	39	39	LPHN1	A	1	1
TECR	9524	broad.mit.edu	36	19	14536031	14536031	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14536031C>T	uc002mzd.1	+	c.421C>T	c.(421-423)CGC>TGC	p.R141C	TECR_uc002mza.1_Missense_Mutation_p.R141C|TECR_uc002mzb.1_Missense_Mutation_p.R156C|TECR_uc002mzc.1_5'UTR|TECR_uc002mze.1_5'Flank|TECR_uc002mzf.1_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	glycoprotein, synaptic 2	141					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|oxidation-reduction process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity				0														0.258065	59.072496	63.997135	24	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14536031	14536031	16272	19	C	T	T	27	27	TECR	T	1	1
NDUFB7	4713	broad.mit.edu	36	19	14538712	14538712	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14538712G>A	uc002mzg.1	-	c.146C>T	c.(145-147)GCG>GTG	p.A49V		NM_004146	NP_004137	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	49					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)									0.333333	7.421648	7.64323	3	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14538712	14538712	10685	19	G	A	A	38	38	NDUFB7	A	1	1
CLEC17A	388512	broad.mit.edu	36	19	14571546	14571546	+	Missense_Mutation	SNP	C	G	G			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14571546C>G	uc010dzo.1	+	c.664C>G	c.(664-666)CTA>GTA	p.L222V	CLEC17A_uc002mzh.1_Missense_Mutation_p.L205V|CLEC17A_uc010dzn.1_Missense_Mutation_p.L222V	NM_207390	NP_997273	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	222	Extracellular (Potential).					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity				0														0.235294	8.617833	9.689549	4	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14571546	14571546	3638	19	C	G	G	28	28	CLEC17A	G	3	3
BRD4	23476	broad.mit.edu	36	19	15216373	15216373	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15216373C>T	uc002nar.1	-	c.2250G>A	c.(2248-2250)CCG>CCA	p.P750P		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	750					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2										269				0.266667	29.9995	32.201832	12	33	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Silent	SNP	15216373	15216373	1535	19	C	T	T	23	23	BRD4	T	1	1
BRD4	23476	broad.mit.edu	36	19	15244793	15244793	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15244793C>T	uc002nar.1	-	c.118G>A	c.(118-120)GCA>ACA	p.A40T	BRD4_uc002nas.1_Missense_Mutation_p.A40T|BRD4_uc002nat.2_Missense_Mutation_p.A40T|BRD4_uc002nau.2_Missense_Mutation_p.A40T	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	40					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2									p.A40T(SNU1040-Tumor)	269				0.392157	163.982802	165.49943	60	93	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Missense_Mutation	SNP	15244793	15244793	1535	19	C	T	T	27	27	BRD4	T	1	1
NWD1	284434	broad.mit.edu	36	19	16721396	16721396	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16721396C>T	uc002net.2	+	c.538C>T	c.(538-540)CGC>TGC	p.R180C	NWD1_uc002neu.2_Missense_Mutation_p.R315C|NWD1_uc002nev.2_Missense_Mutation_p.R109C	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	315							ATP binding			ovary(2)|pancreas(2)	4														0.367089	81.456249	82.682232	29	50	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16721396	16721396	11186	19	C	T	T	19	19	NWD1	T	1	1
SIN3B	23309	broad.mit.edu	36	19	16848312	16848312	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16848312C>T	uc002ney.1	+	c.2878C>T	c.(2878-2880)CGC>TGC	p.R960C	SIN3B_uc002nez.1_Missense_Mutation_p.R928C|SIN3B_uc010eaj.1_5'Flank	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	960					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2														0.357143	42.318102	43.070917	15	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16848312	16848312	14821	19	C	T	T	27	27	SIN3B	T	1	1
GTPBP3	84705	broad.mit.edu	36	19	17311046	17311046	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17311046C>T	uc002ngg.2	+	c.875C>T	c.(874-876)GCG>GTG	p.A292V	GTPBP3_uc010ear.1_Non-coding_Transcript|GTPBP3_uc002ngh.2_Missense_Mutation_p.A260V|GTPBP3_uc010eas.1_Missense_Mutation_p.A260V|GTPBP3_uc002ngi.2_5'UTR	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform	260	GTP (Potential).				tRNA modification	mitochondrion	GTP binding|GTPase activity				0														0.290323	22.670958	23.887282	9	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17311046	17311046	7161	19	C	T	T	27	27	GTPBP3	T	1	1
MAST3	23031	broad.mit.edu	36	19	18116877	18116877	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18116877G>A	uc002nhz.2	+	c.2790G>A	c.(2788-2790)TCG>TCA	p.S930S		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	930	Ser-rich.				protein phosphorylation		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)	4										374				0.45	83.222517	83.352346	27	33	GG		KEEP	---	---	---	---	capture			Silent	SNP	18116877	18116877	9710	19	G	A	A	40	40	MAST3	A	1	1
UBA52	7311	broad.mit.edu	36	19	18545104	18545104	+	De_novo_Start_OutOfFrame	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18545104C>T	uc002njr.1	+	c.-6C>T	c.(-8--4)GACGC>GATGC		UBA52_uc002njs.1_De_novo_Start_OutOfFrame|UBA52_uc002njt.1_De_novo_Start_OutOfFrame	NM_001033930	NP_003324			ubiquitin and ribosomal protein L40 precursor						activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome				0														0.404255	54.212635	54.590087	19	28	CC		KEEP	---	---	---	---	capture			De_novo_Start_OutOfFrame	SNP	18545104	18545104	17388	19	C	T	T	19	19	UBA52	T	5	1
SCAMP4	113178	broad.mit.edu	36	19	1869984	1869984	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1869984C>T	uc002luj.1	+	c.390C>T	c.(388-390)GGC>GGT	p.G130G	SCAMP4_uc002lui.1_Silent_p.G130G|SCAMP4_uc002luk.1_Intron|SCAMP4_uc010dss.1_Silent_p.G86G	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	130					protein transport	integral to membrane					0		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)												0.333333	11.198059	11.492237	4	8	CC		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	1869984	1869984	14354	19	C	T	T	27	27	SCAMP4	T	1	1
NCAN	1463	broad.mit.edu	36	19	19198571	19198571	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19198571C>T	uc002nlz.1	+	c.1349C>T	c.(1348-1350)ACG>ATG	p.T450M	NCAN_uc010ecc.1_Missense_Mutation_p.T14M	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3	450					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4														0.365854	40.415144	41.063437	15	26	CC		KEEP	---	---	---	---	capture	Epithelial(12;0.00544)		Missense_Mutation	SNP	19198571	19198571	10603	19	C	T	T	19	19	NCAN	T	1	1
CILP2	148113	broad.mit.edu	36	19	19516904	19516904	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19516904C>T	uc002nmw.2	+	c.2568C>T	c.(2566-2568)GAC>GAT	p.D856D	CILP2_uc002nmv.2_Silent_p.D850D	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	850						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.358974	36.948274	37.627126	14	25	CC		KEEP	---	---	---	---	capture			Silent	SNP	19516904	19516904	3564	19	C	T	T	19	19	CILP2	T	1	1
GMIP	51291	broad.mit.edu	36	19	19605726	19605726	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19605726C>T	uc002nnd.1	-	c.2358G>A	c.(2356-2358)CCG>CCA	p.P786P		NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	786	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1														0.470588	20.733682	20.742521	8	9	CC		KEEP	---	---	---	---	capture			Silent	SNP	19605726	19605726	6760	19	C	T	T	27	27	GMIP	T	1	1
MOBKL2A	126308	broad.mit.edu	36	19	2027976	2027976	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2027976C>T	uc002luu.1	-	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	MOBKL2A_uc002luv.1_Missense_Mutation_p.R153Q	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	MOB-LAK	153						intracellular	metal ion binding			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)												0.411765	43.548196	43.778105	14	20	CC		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	2027976	2027976	10075	19	C	T	T	23	23	MOBKL2A	T	1	1
MOBKL2A	126308	broad.mit.edu	36	19	2029386	2029386	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2029386G>A	uc002luu.1	-	c.174C>T	c.(172-174)AAC>AAT	p.N58N	MOBKL2A_uc002luv.1_Silent_p.N58N	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	MOB-LAK	58						intracellular	metal ion binding			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)												0.487179	118.848548	118.859623	38	40	GG		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	2029386	2029386	10075	19	G	A	A	40	40	MOBKL2A	A	1	1
SPPL2B	56928	broad.mit.edu	36	19	2302551	2302551	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2302551C>T	uc002lvs.1	+	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	SPPL2B_uc002lvr.1_Missense_Mutation_p.R492C	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	492						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)												0.446281	158.444298	158.746306	54	67	CC		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	2302551	2302551	15602	19	C	T	T	27	27	SPPL2B	T	1	1
PPAP2C	8612	broad.mit.edu	36	19	238568	238568	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:238568C>T	uc002loh.1	-	c.451G>A	c.(451-453)GTC>ATC	p.V151I	PPAP2C_uc002loi.1_Missense_Mutation_p.V130I|PPAP2C_uc002loj.1_Missense_Mutation_p.V74I	NM_177543	NP_803545	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 3	130					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)												0.340426	171.735969	175.970345	64	124	CC		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	238568	238568	12722	19	C	T	T	19	19	PPAP2C	T	1	1
ZNF555	148254	broad.mit.edu	36	19	2803903	2803903	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:2803903C>T	uc002lwo.1	+	c.840C>T	c.(838-840)GGC>GGT	p.G280G	ZNF555_uc002lwn.2_Silent_p.G279G	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.395062	86.830527	87.593172	32	49	CC		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	2803903	2803903	18581	19	C	T	T	27	27	ZNF555	T	1	1
THEG	51298	broad.mit.edu	36	19	326850	326850	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:326850G>A	uc002lol.1	-	c.121C>T	c.(121-123)CGG>TGG	p.R41W	THEG_uc002lom.1_Missense_Mutation_p.R41W	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	41					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)												0.404255	102.922908	103.67825	38	56	GG		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	326850	326850	16385	19	G	A	A	38	38	THEG	A	1	1
C19orf28	126321	broad.mit.edu	36	19	3502125	3502125	+	Silent	SNP	C	T	T	rs61733854	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3502125C>T	uc002lxw.1	-	c.366G>A	c.(364-366)ACG>ACA	p.T122T	C19orf28_uc002lxx.1_Silent_p.T122T|C19orf28_uc002lxy.1_Silent_p.T113T|C19orf28_uc002lxz.1_Silent_p.T122T	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform a	122					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)												0.520833	74.002876	74.023667	25	23	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3502125	3502125	1980	19	C	T	T	27	27	C19orf28	T	1	1
GIPC3	126326	broad.mit.edu	36	19	3540462	3540462	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3540462G>A	uc002lyc.1	+	c.614G>A	c.(613-615)CGG>CAG	p.R205Q	GIPC3_uc002lyd.2_5'Flank	NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	205										breast(1)	1														0.098214	8.445502	26.534157	11	101	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3540462	3540462	6662	19	G	A	A	39	39	GIPC3	A	1	1
TBXA2R	6915	broad.mit.edu	36	19	3551306	3551306	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3551306G>A	uc002lyf.1	-	c.327C>T	c.(325-327)GGC>GGT	p.G109G	TBXA2R_uc002lye.1_Silent_p.G109G|TBXA2R_uc002lyg.1_Silent_p.G109G	NM_201636	NP_963998	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform 1	109	Helical; Name=3; (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)			Ridogrel(DB01207)									0.384615	53.98842	54.594856	20	32	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	3551306	3551306	16189	19	G	A	A	38	38	TBXA2R	A	1	1
NUDT19	390916	broad.mit.edu	36	19	37894635	37894635	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:37894635G>A	uc010edf.1	+	c.1060G>A	c.(1060-1062)GTG>ATG	p.V354M		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety	354						mitochondrion|peroxisome	hydrolase activity|metal ion binding				0	Esophageal squamous(110;0.137)													0.381743	266.351363	269.303502	92	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37894635	37894635	11141	19	G	A	A	40	40	NUDT19	A	1	1
GPATCH1	55094	broad.mit.edu	36	19	38309454	38309454	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:38309454G>A	uc002nug.1	+	c.2740G>A	c.(2740-2742)GTG>ATG	p.V914M	GPATCH1_uc002nuh.1_Missense_Mutation_p.V291M	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	914					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	nucleic acid binding				0	Esophageal squamous(110;0.137)					Pancreas(67;88 1713 4567 18227)						OREG0025410	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.396552	130.106294	131.197494	46	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38309454	38309454	6864	19	G	A	A	40	40	GPATCH1	A	1	1
GAPDHS	26330	broad.mit.edu	36	19	40726560	40726560	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40726560C>T	uc002oaf.1	+	c.1047C>T	c.(1045-1047)ACC>ACT	p.T349T	TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank|TMEM147_uc010eed.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	349					gluconeogenesis|glycolysis|oxidation-reduction process|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)				NADH(DB00157)									0.268293	28.41616	30.397315	11	30	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Silent	SNP	40726560	40726560	6501	19	C	T	T	23	23	GAPDHS	T	1	1
ATP4A	495	broad.mit.edu	36	19	40739733	40739733	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40739733C>T	uc002oal.1	-	c.1791G>A	c.(1789-1791)GCG>GCA	p.A597A	ATP4A_uc010eee.1_Intron	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	597	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)				Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)									0.266667	57.459915	61.887536	24	66	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0724)		Silent	SNP	40739733	40739733	1164	19	C	T	T	23	23	ATP4A	T	1	1
MLL4	9757	broad.mit.edu	36	19	40915480	40915480	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40915480G>A	uc010eei.1	+	c.6190G>A	c.(6190-6192)GTG>ATG	p.V2064M		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2064					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)													0.714286	15.378406	15.668581	5	2	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Missense_Mutation	SNP	40915480	40915480	10013	19	G	A	A	40	40	MLL4	A	1	1
SIPA1L3	23094	broad.mit.edu	36	19	43264585	43264585	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43264585C>T	uc002ohk.1	+	c.540C>T	c.(538-540)GAC>GAT	p.D180D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	180					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.439394	81.651965	81.864503	29	37	CC		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Silent	SNP	43264585	43264585	14826	19	C	T	T	19	19	SIPA1L3	T	1	1
SIPA1L3	23094	broad.mit.edu	36	19	43265400	43265400	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43265400C>T	uc002ohk.1	+	c.1355C>T	c.(1354-1356)CCG>CTG	p.P452L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	452					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.430556	93.124669	93.42467	31	41	CC		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Missense_Mutation	SNP	43265400	43265400	14826	19	C	T	T	23	23	SIPA1L3	T	1	1
SIPA1L3	23094	broad.mit.edu	36	19	43376160	43376160	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43376160G>A	uc002ohk.1	+	c.4740G>A	c.(4738-4740)CCG>CCA	p.P1580P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1580					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.388889	20.421963	20.616262	7	11	GG		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Silent	SNP	43376160	43376160	14826	19	G	A	A	40	40	SIPA1L3	A	1	1
GGN	199720	broad.mit.edu	36	19	43568133	43568133	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43568133C>T	uc002oij.1	-	c.1609G>A	c.(1609-1611)GCG>ACG	p.A537T	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.A454T	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	537	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)													0.265306	33.759181	36.194214	13	36	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43568133	43568133	6626	19	C	T	T	27	27	GGN	T	1	1
GGN	199720	broad.mit.edu	36	19	43568506	43568506	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43568506C>T	uc002oij.1	-	c.1236G>A	c.(1234-1236)GCG>GCA	p.A412A	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.A329A	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	412	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)													0.5625	27.776637	27.83117	9	7	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43568506	43568506	6626	19	C	T	T	27	27	GGN	T	1	1
RASGRP4	115727	broad.mit.edu	36	19	43595244	43595244	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43595244C>T	uc002oir.2	-	c.1588G>A	c.(1588-1590)GCC>ACC	p.A530T	RASGRP4_uc010efz.1_Non-coding_Transcript|RASGRP4_uc010ega.1_Non-coding_Transcript|RASGRP4_uc010egb.1_Missense_Mutation_p.A381T	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	530					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|skin(1)	2	all_cancers(60;4.21e-06)													0.444444	32.101893	32.173083	12	15	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43595244	43595244	13538	19	C	T	T	27	27	RASGRP4	T	1	1
RASGRP4	115727	broad.mit.edu	36	19	43595892	43595892	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43595892C>T	uc002oir.2	-	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P	RASGRP4_uc010efz.1_Non-coding_Transcript|RASGRP4_uc010ega.1_Non-coding_Transcript|RASGRP4_uc010egb.1_Silent_p.P282P	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	431	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|skin(1)	2	all_cancers(60;4.21e-06)													0.4	28.74443	28.963207	10	15	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43595892	43595892	13538	19	C	T	T	27	27	RASGRP4	T	1	1
RYR1	6261	broad.mit.edu	36	19	43690268	43690268	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43690268C>T	uc002oit.1	+	c.8893C>T	c.(8893-8895)CGC>TGC	p.R2965C	RYR1_uc002oiu.1_Missense_Mutation_p.R2965C|RYR1_uc002oiv.1_Non-coding_Transcript	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2965	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.348214	110.793587	113.069829	39	73	CC		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43690268	43690268	14248	19	C	T	T	27	27	RYR1	T	1	1
ACTN4	81	broad.mit.edu	36	19	43911583	43911583	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43911583G>A	uc002oja.1	+	c.2526G>A	c.(2524-2526)ACG>ACA	p.T842T	ACTN4_uc002ojb.1_Silent_p.T164T	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	842					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)					Colon(168;199 1940 10254 46213 46384)								0.379562	157.887874	159.622957	52	85	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Silent	SNP	43911583	43911583	208	19	G	A	A	39	39	ACTN4	A	1	1
HDGFRP2	84717	broad.mit.edu	36	19	4450546	4450546	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4450546G>A	uc002mao.1	+	c.1634G>A	c.(1633-1635)CGG>CAG	p.R545Q	HDGFRP2_uc002map.1_Missense_Mutation_p.R545Q|HDGFRP2_uc010dtz.1_Non-coding_Transcript|HDGFRP2_uc002maq.1_Missense_Mutation_p.R10Q|HDGFRP2_uc010dua.1_Missense_Mutation_p.R10Q	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	545	Potential.					nucleus	DNA binding|protein binding|transcription regulator activity				0														0.323529	33.115983	34.054415	11	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4450546	4450546	7303	19	G	A	A	39	39	HDGFRP2	A	1	1
SAMD4B	55095	broad.mit.edu	36	19	44563172	44563172	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44563172C>T	uc002olb.1	+	c.1755C>T	c.(1753-1755)CCC>CCT	p.P585P	SAMD4B_uc002ola.2_Silent_p.P585P	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	585							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)													0.510204	77.368583	77.373118	25	24	CC		KEEP	---	---	---	---	capture	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		Silent	SNP	44563172	44563172	14302	19	C	T	T	23	23	SAMD4B	T	1	1
SPTBN4	57731	broad.mit.edu	36	19	45700570	45700570	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45700570C>T	uc002ony.1	+	c.1252C>T	c.(1252-1254)CGG>TGG	p.R418W	SPTBN4_uc002onx.1_Missense_Mutation_p.R418W|SPTBN4_uc002onz.1_Missense_Mutation_p.R418W	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	418	Spectrin 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4														0.381579	164.916089	166.784424	58	94	CC		KEEP	---	---	---	---	capture	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45700570	45700570	15635	19	C	T	T	19	19	SPTBN4	T	1	1
LTBP4	8425	broad.mit.edu	36	19	45809039	45809039	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45809039C>T	uc002ooh.1	+	c.2153C>T	c.(2152-2154)CCG>CTG	p.P718L	LTBP4_uc002oog.1_Missense_Mutation_p.P681L|LTBP4_uc002ooi.1_Missense_Mutation_p.P651L|LTBP4_uc002ooj.1_Intron|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	718	EGF-like 7; calcium-binding (Potential).|Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1														0.461538	35.996931	36.030427	12	14	CC		KEEP	---	---	---	---	capture	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45809039	45809039	9452	19	C	T	T	23	23	LTBP4	T	1	1
LTBP4	8425	broad.mit.edu	36	19	45812191	45812191	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45812191C>T	uc002ooh.1	+	c.3012C>T	c.(3010-3012)GAC>GAT	p.D1004D	LTBP4_uc002oog.1_Silent_p.D967D|LTBP4_uc002ooi.1_Silent_p.D937D|LTBP4_uc002ooj.1_De_novo_Start_OutOfFrame|LTBP4_uc002ook.1_Silent_p.D224D|LTBP4_uc002ool.1_Silent_p.D102D|LTBP4_uc002oom.1_Non-coding_Transcript	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1004	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1														0.285714	8.390773	8.97089	4	10	CC		KEEP	---	---	---	---	capture	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Silent	SNP	45812191	45812191	9452	19	C	T	T	19	19	LTBP4	T	1	1
LTBP4	8425	broad.mit.edu	36	19	45814890	45814890	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45814890G>A	uc002ooh.1	+	c.3190G>A	c.(3190-3192)GTG>ATG	p.V1064M	LTBP4_uc002oog.1_Missense_Mutation_p.V1027M|LTBP4_uc002ooi.1_Missense_Mutation_p.V997M|LTBP4_uc002ooj.1_De_novo_Start_OutOfFrame|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Non-coding_Transcript	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1064	Cys-rich.|EGF-like 12; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1														0.357143	39.010684	39.766674	15	27	GG		KEEP	---	---	---	---	capture	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45814890	45814890	9452	19	G	A	A	40	40	LTBP4	A	1	1
C19orf10	56005	broad.mit.edu	36	19	4615923	4615923	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:4615923G>A	uc002may.1	-	c.252C>T	c.(250-252)AGC>AGT	p.S84S		NM_019107	NP_061980	Q969H8	CS010_HUMAN	hypothetical protein LOC56005	84						ER-Golgi intermediate compartment|extracellular region					0		Hepatocellular(1079;0.137)												0.483871	45.123159	45.130174	15	16	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)	Silent	SNP	4615923	4615923	1970	19	G	A	A	38	38	C19orf10	A	1	1
CYP2A13	1553	broad.mit.edu	36	19	46287906	46287906	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46287906C>T	uc002opt.1	+	c.458C>T	c.(457-459)GCG>GTG	p.A153V		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	153					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)									0.306452	47.193629	49.270078	19	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46287906	46287906	4326	19	C	T	T	27	27	CYP2A13	T	1	1
TGFB1	7040	broad.mit.edu	36	19	46542588	46542588	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46542588G>A	uc002oqh.1	-	c.538C>T	c.(538-540)CGA>TGA	p.R180*		NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	180					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|macrophage derived foam cell differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|transcription activator activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)					70				0.411765	20.521445	20.637145	7	10	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	46542588	46542588	16344	19	G	A	A	38	38	TGFB1	A	5	1
CEACAM4	1089	broad.mit.edu	36	19	46823821	46823821	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46823821C>T	uc002orh.1	-	c.418G>A	c.(418-420)GTA>ATA	p.V140I		NM_001817	NP_001808	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion	140	Extracellular (Potential).					integral to plasma membrane|membrane fraction					0														0.348958	185.180128	189.039312	67	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46823821	46823821	3327	19	C	T	T	19	19	CEACAM4	T	1	1
GRIK5	2901	broad.mit.edu	36	19	47258594	47258594	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47258594G>A	uc002osj.1	-	c.394C>T	c.(394-396)CGC>TGC	p.R132C	GRIK5_uc010eib.1_Missense_Mutation_p.R64C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	132	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)									0.394558	169.210445	170.643018	58	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47258594	47258594	7056	19	G	A	A	37	37	GRIK5	A	1	1
MEGF8	1954	broad.mit.edu	36	19	47530049	47530049	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47530049C>T	uc002otl.2	+	c.402C>T	c.(400-402)AAC>AAT	p.N134N	MEGF8_uc002otm.2_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	134	Extracellular (Potential).|CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.380952	44.590929	45.112547	16	26	CC		KEEP	---	---	---	---	capture			Silent	SNP	47530049	47530049	9852	19	C	T	T	19	19	MEGF8	T	1	1
MEGF8	1954	broad.mit.edu	36	19	47565550	47565550	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47565550C>T	uc002otl.2	+	c.6468C>T	c.(6466-6468)TGC>TGT	p.C2156C	MEGF8_uc002otm.2_Silent_p.C1764C|MEGF8_uc002otn.2_5'UTR	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2223	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.349206	59.729807	60.994365	22	41	CC		KEEP	---	---	---	---	capture			Silent	SNP	47565550	47565550	9852	19	C	T	T	27	27	MEGF8	T	1	1
MEGF8	1954	broad.mit.edu	36	19	47565620	47565620	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47565620C>T	uc002otl.2	+	c.6538C>T	c.(6538-6540)CGC>TGC	p.R2180C	MEGF8_uc002otm.2_Missense_Mutation_p.R1788C|MEGF8_uc002otn.2_5'UTR	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2247	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.5	42.85	42.85	14	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47565620	47565620	9852	19	C	T	T	23	23	MEGF8	T	1	1
CDC34	997	broad.mit.edu	36	19	486885	486885	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:486885C>T	uc002lov.1	+	c.226C>T	c.(226-228)CGG>TGG	p.R76W		NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	76					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|post-translational protein modification|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)								146				0.342205	514.427826	526.005481	180	346	CC		KEEP	---	---	---	---	capture		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	486885	486885	3195	19	C	T	T	31	31	CDC34	T	1	1
PNMAL1	55228	broad.mit.edu	36	19	51665778	51665778	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:51665778G>A	uc002peq.2	-	c.355C>T	c.(355-357)CGC>TGC	p.R119C	PNMAL1_uc002per.2_Missense_Mutation_p.R119C	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	119											0		Ovarian(192;0.00965)|all_neural(266;0.0459)												0.373239	136.212588	138.225083	53	89	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	Missense_Mutation	SNP	51665778	51665778	12584	19	G	A	A	38	38	PNMAL1	A	1	1
PTPRS	5802	broad.mit.edu	36	19	5195098	5195098	+	Missense_Mutation	SNP	C	T	T	rs73545312	by-1000genomes	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:5195098C>T	uc002mbv.1	-	c.1384G>A	c.(1384-1386)GTC>ATC	p.V462I	PTPRS_uc002mbu.1_Missense_Mutation_p.V449I|PTPRS_uc002mbw.1_Missense_Mutation_p.V449I|PTPRS_uc002mbx.1_Missense_Mutation_p.V453I|PTPRS_uc002mby.1_Missense_Mutation_p.V449I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	462	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4														0.394737	122.838859	123.947409	45	69	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Missense_Mutation	SNP	5195098	5195098	13269	19	C	T	T	19	19	PTPRS	T	1	1
ZC3H4	23211	broad.mit.edu	36	19	52262445	52262445	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52262445C>T	uc002pga.2	-	c.2920G>A	c.(2920-2922)GCC>ACC	p.A974T	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	974							nucleic acid binding|zinc ion binding			ovary(2)	2		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)												0.414773	204.458986	205.56977	73	103	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	Missense_Mutation	SNP	52262445	52262445	18158	19	C	T	T	27	27	ZC3H4	T	1	1
ZC3H4	23211	broad.mit.edu	36	19	52262568	52262568	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52262568G>A	uc002pga.2	-	c.2797C>T	c.(2797-2799)CGG>TGG	p.R933W	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	933							nucleic acid binding|zinc ion binding			ovary(2)	2		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)												0.37037	164.647124	167.043065	60	102	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	Missense_Mutation	SNP	52262568	52262568	18158	19	G	A	A	38	38	ZC3H4	A	1	1
DHX34	9704	broad.mit.edu	36	19	52576351	52576351	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52576351G>A	uc002pgl.1	+	c.3237G>A	c.(3235-3237)ACG>ACA	p.T1079T	DHX34_uc002pgm.1_Silent_p.T208T	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1079						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)	4		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)												0.366667	83.897561	85.324422	33	57	GG		KEEP	---	---	---	---	capture		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	Silent	SNP	52576351	52576351	4686	19	G	A	A	38	38	DHX34	A	1	1
LIG1	3978	broad.mit.edu	36	19	53312772	53312772	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53312772C>T	uc002pia.1	-	c.2518G>A	c.(2518-2520)GCT>ACT	p.A840T	LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	840					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|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	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)			Bleomycin(DB00290)									0.25	11.874289	13.004789	5	15	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Missense_Mutation	SNP	53312772	53312772	9107	19	C	T	T	27	27	LIG1	T	1	1
GRWD1	83743	broad.mit.edu	36	19	53647818	53647818	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53647818C>T	uc002pjd.1	+	c.1065C>T	c.(1063-1065)CCC>CCT	p.P355P	KCNJ14_uc002pje.1_5'Flank	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	355	WD 4.					nucleolus				ovary(1)	1		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)												0.264706	67.578691	72.68531	27	75	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	Silent	SNP	53647818	53647818	7091	19	C	T	T	23	23	GRWD1	T	1	1
FUT1	2523	broad.mit.edu	36	19	53945511	53945511	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53945511C>T	uc002pkk.1	-	c.840G>A	c.(838-840)ACG>ACA	p.T280T	FUT1_uc010emg.1_Silent_p.T280T	NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	280	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.435028	228.046943	228.698314	77	100	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	Silent	SNP	53945511	53945511	6352	19	C	T	T	19	19	FUT1	T	1	1
PPP1R15A	23645	broad.mit.edu	36	19	54070686	54070686	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54070686C>T	uc002pky.2	+	c.1669C>T	c.(1669-1671)CGC>TGC	p.R557C		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	557	Interaction with SMARCB1.			KVRF->AAAA: Reduces interaction with SMARCB1.|VRF->ARA: Impairs PP1 activation.	apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.393258	92.309529	93.194605	35	54	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	Missense_Mutation	SNP	54070686	54070686	12798	19	C	T	T	27	27	PPP1R15A	T	1	1
TRPM4	54795	broad.mit.edu	36	19	54378160	54378160	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54378160C>T	uc002pmw.1	+	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L	TRPM4_uc010emu.1_Missense_Mutation_p.S541L|TRPM4_uc002pmx.1_Missense_Mutation_p.S367L|TRPM4_uc010emv.1_Missense_Mutation_p.S426L|TRPM4_uc002pmy.1_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	541	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)												0.386364	47.263576	47.761681	17	27	CC		KEEP	---	---	---	---	capture		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	Missense_Mutation	SNP	54378160	54378160	17139	19	C	T	T	31	31	TRPM4	T	1	1
PRMT1	3276	broad.mit.edu	36	19	54876993	54876993	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54876993C>T	uc010enf.1	+	c.207C>T	c.(205-207)GAC>GAT	p.D69D	PRMT1_uc002ppc.1_Non-coding_Transcript|PRMT1_uc002ppd.2_Silent_p.D45D|PRMT1_uc002ppe.2_Silent_p.D51D|PRMT1_uc002ppf.2_Non-coding_Transcript|PRMT1_uc002ppg.2_Silent_p.D16D	NM_001536	NP_001527	Q99873	ANM1_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	59					cell surface receptor linked signaling pathway|neuron projection development	cytosol|nucleus	histone methyltransferase activity (H4-R3 specific)|protein binding			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)												0.32	41.982143	43.421647	16	34	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	Silent	SNP	54876993	54876993	12978	19	C	T	T	19	19	PRMT1	T	1	1
NUP62	23636	broad.mit.edu	36	19	55103349	55103349	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55103349G>A	uc002pqx.1	-	c.1528C>T	c.(1528-1530)CGC>TGC	p.R510C	IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.1_Missense_Mutation_p.R510C|NUP62_uc002pqz.1_Missense_Mutation_p.R510C|NUP62_uc002pra.1_Missense_Mutation_p.R510C|NUP62_uc002prb.1_Missense_Mutation_p.R510C|NUP62_uc002prc.2_Missense_Mutation_p.R434C|NUP62_uc010enp.1_Missense_Mutation_p.R510C	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	510					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|transcription regulator activity|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)												0.328571	64.24055	66.044485	23	47	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	Missense_Mutation	SNP	55103349	55103349	11173	19	G	A	A	38	38	NUP62	A	1	1
VRK3	51231	broad.mit.edu	36	19	55174256	55174256	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55174256C>T	uc002prg.2	-	c.1332G>A	c.(1330-1332)CCG>CCA	p.P444P	VRK3_uc002prh.1_Silent_p.P444P|VRK3_uc002pri.1_Silent_p.P394P|VRK3_uc010ens.1_Silent_p.P444P	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	444	Protein kinase.				protein phosphorylation	nucleus	ATP binding|protein kinase activity				0		all_neural(266;0.0459)|Ovarian(192;0.0481)				Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)				222				0.486842	106.5661	106.577625	37	39	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	Silent	SNP	55174256	55174256	17788	19	C	T	T	27	27	VRK3	T	1	1
KLK7	5650	broad.mit.edu	36	19	56175526	56175526	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56175526G>A	uc002puo.1	-	c.251C>T	c.(250-252)ACG>ATG	p.T84M	KLK7_uc002pun.1_De_novo_Start_InFrame|KLK7_uc002pup.1_Missense_Mutation_p.T84M|KLK7_uc010eok.1_Missense_Mutation_p.T12M	NM_139277	NP_644806	P49862	KLK7_HUMAN	stratum corneum chymotryptic enzyme	84	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)								155				0.561644	130.582336	130.823896	41	32	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	Missense_Mutation	SNP	56175526	56175526	8723	19	G	A	A	40	40	KLK7	A	1	1
SIGLEC5	8778	broad.mit.edu	36	19	56824542	56824542	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56824542C>T	uc002pxe.1	-	c.581G>A	c.(580-582)CGC>CAC	p.R194H		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	194	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(1)	2		all_neural(266;0.0726)												0.303571	39.728702	41.67383	17	39	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	Missense_Mutation	SNP	56824542	56824542	14806	19	C	T	T	27	27	SIGLEC5	T	1	1
ZNF350	59348	broad.mit.edu	36	19	57160139	57160139	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57160139G>A	uc002pyd.1	-	c.1379C>T	c.(1378-1380)GCG>GTG	p.A460V		NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	460					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|transcription repressor activity|zinc ion binding			breast(1)	1		all_neural(266;0.0505)												0.27	65.994488	70.760614	27	73	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	Missense_Mutation	SNP	57160139	57160139	18455	19	G	A	A	38	38	ZNF350	A	1	1
NLRP12	91662	broad.mit.edu	36	19	59005333	59005333	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59005333C>T	uc002qcj.2	-	c.1392G>A	c.(1390-1392)TTG>TTA	p.L464L	NLRP12_uc010eqw.1_5'Flank|NLRP12_uc002qch.2_Silent_p.L464L|NLRP12_uc002qci.2_Silent_p.L464L|NLRP12_uc002qck.2_Non-coding_Transcript|NLRP12_uc010eqx.1_Silent_p.L464L	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	464	NACHT.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)													0.456376	207.155631	207.40551	68	81	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.026)	Silent	SNP	59005333	59005333	10877	19	C	T	T	21	21	NLRP12	T	2	2
CACNG6	59285	broad.mit.edu	36	19	59207106	59207106	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59207106C>T	uc002qct.1	+	c.634C>T	c.(634-636)CGC>TGC	p.R212C	CACNG6_uc002qcu.1_Missense_Mutation_p.R166C|CACNG6_uc002qcv.1_Missense_Mutation_p.R141C	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	212						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)													0.461538	103.382604	103.48368	36	42	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.168)	Missense_Mutation	SNP	59207106	59207106	2677	19	C	T	T	19	19	CACNG6	T	1	1
NDUFA3	4696	broad.mit.edu	36	19	59301958	59301958	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59301958C>T	uc002qde.1	+	c.192C>T	c.(190-192)CCC>CCT	p.P64P	NDUFA3_uc002qdf.1_Non-coding_Transcript	NM_004542	NP_004533	O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	64					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)					8				0.354839	65.442277	66.589082	22	40	CC		KEEP	---	---	---	---	capture			Silent	SNP	59301958	59301958	10664	19	C	T	T	23	23	NDUFA3	T	1	1
LILRA3	11026	broad.mit.edu	36	19	59495352	59495352	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59495352C>T	uc002qfd.1	-	c.284G>A	c.(283-285)CGG>CAG	p.R95Q	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.1_Missense_Mutation_p.R95Q	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	95	Ig-like C2-type 1.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)													0.45977	121.48879	121.611487	40	47	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.105)	Missense_Mutation	SNP	59495352	59495352	9112	19	C	T	T	23	23	LILRA3	T	1	1
LILRB4	11006	broad.mit.edu	36	19	59869562	59869562	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59869562G>A	uc002qgr.1	+	c.1057G>A	c.(1057-1059)GGG>AGG	p.G353R	LILRB4_uc002qgp.1_Missense_Mutation_p.G312R|LILRB4_uc002qgq.1_Missense_Mutation_p.G312R|LILRB4_uc010ert.1_Missense_Mutation_p.G353R|LILRB4_uc010eru.1_Missense_Mutation_p.G341R	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	312	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3														0.423529	112.091437	112.523722	36	49	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.035)	Missense_Mutation	SNP	59869562	59869562	9119	19	G	A	A	39	39	LILRB4	A	1	1
KIR3DL1	3811	broad.mit.edu	36	19	60069909	60069909	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60069909G>A	uc002qhl.2	+	c.1279G>A	c.(1279-1281)GTG>ATG	p.V427M	KIR3DL2_uc010esh.1_Missense_Mutation_p.V410M|KIR3DL2_uc002qho.2_Missense_Mutation_p.V427M			P43629	KI3L1_HUMAN	Killer-cell immunoglobulin-like receptor KIR3DL1/2v (Fragment).	427	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3														0.335979	357.227345	366.214931	127	251	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0192)	Missense_Mutation	SNP	60069909	60069909	8632	19	G	A	A	40	40	KIR3DL1	A	1	1
NLRP7	199713	broad.mit.edu	36	19	60143533	60143533	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60143533G>A	uc010esl.1	-	c.550C>T	c.(550-552)CGG>TGG	p.R184W	NLRP7_uc002qig.2_Missense_Mutation_p.R156W|NLRP7_uc002qii.2_Missense_Mutation_p.R156W|NLRP7_uc002qih.2_Missense_Mutation_p.R156W|NLRP7_uc010esk.1_Missense_Mutation_p.R156W	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	156							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.36643	447.822297	454.45394	155	268	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60143533	60143533	10885	19	G	A	A	40	40	NLRP7	A	1	1
CCDC106	29903	broad.mit.edu	36	19	60854528	60854528	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60854528C>T	uc002qlr.1	+	c.381C>T	c.(379-381)GGC>GGT	p.G127G	CCDC106_uc002qls.1_Silent_p.G127G|U2AF2_uc002qlt.1_5'Flank|U2AF2_uc002qlu.1_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	127						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)												0.666667	74.706302	75.591283	24	12	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	Silent	SNP	60854528	60854528	2861	19	C	T	T	27	27	CCDC106	T	1	1
ZNF324B	388569	broad.mit.edu	36	19	63659588	63659588	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63659588G>A	uc002qsv.1	+	c.1465G>A	c.(1465-1467)GCC>ACC	p.A489T	ZNF324B_uc002qsu.1_Missense_Mutation_p.A479T|ZNF324B_uc010euq.1_Missense_Mutation_p.A489T	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	489	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)												0.367925	104.018909	105.63415	39	67	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	Missense_Mutation	SNP	63659588	63659588	18437	19	G	A	A	38	38	ZNF324B	A	1	1
SLC25A23	79085	broad.mit.edu	36	19	6407457	6407457	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6407457C>T	uc002mex.1	-	c.457G>A	c.(457-459)GTG>ATG	p.V153M	SLC25A23_uc002mev.2_Non-coding_Transcript	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	153	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2														0.2875	59.594865	62.833306	23	57	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6407457	6407457	14983	19	C	T	T	19	19	SLC25A23	T	1	1
MCOLN1	57192	broad.mit.edu	36	19	7495904	7495904	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7495904C>T	uc002mgo.1	+	c.89C>T	c.(88-90)CCG>CTG	p.P30L	MCOLN1_uc010dvh.1_Missense_Mutation_p.P30L|MCOLN1_uc002mgp.1_5'UTR	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	30					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1														0.4	51.741198	52.134427	18	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7495904	7495904	9784	19	C	T	T	23	23	MCOLN1	T	1	1
PNPLA6	10908	broad.mit.edu	36	19	7511869	7511869	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7511869C>T	uc002mgq.1	+	c.739C>T	c.(739-741)CGC>TGC	p.R247C	PNPLA6_uc002mgr.1_Missense_Mutation_p.R247C|PNPLA6_uc002mgs.1_Missense_Mutation_p.R234C	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase	286	cNMP 1.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3														0.363636	11.098425	11.277769	4	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7511869	7511869	12596	19	C	T	T	27	27	PNPLA6	T	1	1
STXBP2	6813	broad.mit.edu	36	19	7618089	7618089	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7618089C>T	uc002mha.2	+	c.1494C>T	c.(1492-1494)TTC>TTT	p.F498F	STXBP2_uc002mhb.2_Silent_p.F495F|STXBP2_uc010dvj.1_Non-coding_Transcript|STXBP2_uc010dvk.1_Silent_p.F466F|STXBP2_uc002mhc.2_Silent_p.F234F|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	498					neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1														0.422222	54.216174	54.453501	19	26	CC		KEEP	---	---	---	---	capture			Silent	SNP	7618089	7618089	15873	19	C	T	T	31	31	STXBP2	T	1	1
CD320	51293	broad.mit.edu	36	19	8274905	8274905	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8274905G>A	uc002mjj.1	-	c.336C>T	c.(334-336)GGC>GGT	p.G112G	CD320_uc002mjk.1_Intron|CD320_uc002mjl.1_Silent_p.G70G	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen	112	Extracellular (Potential).				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0														0.384615	12.868083	13.020991	5	8	GG		KEEP	---	---	---	---	capture			Silent	SNP	8274905	8274905	3132	19	G	A	A	38	38	CD320	A	1	1
ADAMTS10	81794	broad.mit.edu	36	19	8571852	8571852	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8571852C>T	uc002mkj.1	-	c.770G>A	c.(769-771)CGC>CAC	p.R257H	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	257	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(1)	3														0.358108	149.738111	152.360313	53	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8571852	8571852	257	19	C	T	T	27	27	ADAMTS10	T	1	1
OR2Z1	284383	broad.mit.edu	36	19	8703274	8703274	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8703274C>T	uc002mkm.1	+	c.884C>T	c.(883-885)CCG>CTG	p.P295L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.415094	138.785396	139.451526	44	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8703274	8703274	11442	19	C	T	T	23	23	OR2Z1	T	1	1
OR7G3	390883	broad.mit.edu	36	19	9098565	9098565	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9098565G>A	uc002mkt.1	-	c.62C>T	c.(61-63)CCG>CTG	p.P21L		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.37037	93.03312	94.227547	30	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9098565	9098565	11635	19	G	A	A	39	39	OR7G3	A	1	1
FBXL12	54850	broad.mit.edu	36	19	9782613	9782613	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:9782613C>T	uc002mme.1	-	c.940G>A	c.(940-942)GTC>ATC	p.V314I	FBXL12_uc002mmd.1_Missense_Mutation_p.V261I|FBXL12_uc002mmf.1_Missense_Mutation_p.V261I|FBXL12_uc002mmg.1_Missense_Mutation_p.V261I|FBXL12_uc002mmh.1_Missense_Mutation_p.V261I	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	314							protein binding			lung(1)|kidney(1)	2														0.339286	52.507439	53.786396	19	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9782613	9782613	5945	19	C	T	T	19	19	FBXL12	T	1	1
PEX14	5195	broad.mit.edu	36	1	10612443	10612443	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10612443G>A	uc001arn.1	+	c.946G>A	c.(946-948)GAG>AAG	p.E316K	PEX14_uc009vmv.1_Missense_Mutation_p.E252K|PEX14_uc009vmw.1_Missense_Mutation_p.E252K	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	316					negative regulation of gene-specific transcription|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(1)	1	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)												0.444444	11.098335	11.122538	4	5	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	Missense_Mutation	SNP	10612443	10612443	12164	1	G	A	A	37	37	PEX14	A	1	1
AHCYL1	10768	broad.mit.edu	36	1	110363200	110363200	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:110363200G>A	uc001dyx.1	+	c.1322G>A	c.(1321-1323)CGT>CAT	p.R441H	AHCYL1_uc001dyy.1_Missense_Mutation_p.R394H	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	441	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)												0.353261	178.225824	181.716386	65	119	GG		KEEP	---	---	---	---	capture		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	Missense_Mutation	SNP	110363200	110363200	413	1	G	A	A	40	40	AHCYL1	A	1	1
CHIA	27159	broad.mit.edu	36	1	111664451	111664451	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:111664451C>T	uc001eas.1	+	c.1271C>T	c.(1270-1272)TCG>TTG	p.S424L	CHIA_uc001ear.1_Missense_Mutation_p.S316L|CHIA_uc001eaq.1_Missense_Mutation_p.S316L|CHIA_uc009wgc.1_Missense_Mutation_p.S316L|CHIA_uc001eat.1_Missense_Mutation_p.S263L|CHIA_uc001eav.1_Missense_Mutation_p.S263L|CHIA_uc001eau.1_Missense_Mutation_p.S263L|CHIA_uc009wgd.1_Missense_Mutation_p.S263L	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	chitinase, acidic isoform c	424					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)												0.289474	57.244714	60.248965	22	54	CC		KEEP	---	---	---	---	capture		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	Missense_Mutation	SNP	111664451	111664451	3476	1	C	T	T	31	31	CHIA	T	1	1
HIPK1	204851	broad.mit.edu	36	1	114311931	114311931	+	Missense_Mutation	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114311931A>G	uc001eem.1	+	c.2402A>G	c.(2401-2403)AAC>AGC	p.N801S	HIPK1_uc001eel.1_Missense_Mutation_p.N801S|HIPK1_uc001een.1_Missense_Mutation_p.N801S|HIPK1_uc001eeo.1_Missense_Mutation_p.N427S|HIPK1_uc001eep.1_Missense_Mutation_p.N407S|HIPK1_uc001eeq.1_Missense_Mutation_p.N93S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	801					protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)								365				0.396552	238.845748	240.473264	69	105	AA		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114311931	114311931	7401	1	A	G	G	2	2	HIPK1	G	4	4
SYT6	148281	broad.mit.edu	36	1	114441990	114441990	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114441990C>T	uc001eev.1	-	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H	SYT6_uc001eeu.1_Missense_Mutation_p.R26H	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	466	Cytoplasmic (Potential).|C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)												0.214286	54.741109	63.182452	24	88	CC		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114441990	114441990	15999	1	C	T	T	19	19	SYT6	T	1	1
PTCHD2	57540	broad.mit.edu	36	1	11484650	11484650	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11484650G>A	uc001ash.2	+	c.1014G>A	c.(1012-1014)TCG>TCA	p.S338S	PTCHD2_uc001asi.1_Silent_p.S338S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	338	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)												0.354839	56.941735	58.08836	22	40	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	Silent	SNP	11484650	11484650	13187	1	G	A	A	38	38	PTCHD2	A	1	1
SYCP1	6847	broad.mit.edu	36	1	115202833	115202833	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115202833G>A	uc001efr.1	+	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	SYCP1_uc001efq.1_Missense_Mutation_p.R145Q|SYCP1_uc009wgw.1_Missense_Mutation_p.R145Q	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	145	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding				0	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)												0.431373	203.230609	203.858093	66	87	GG		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	115202833	115202833	15952	1	G	A	A	37	37	SYCP1	A	1	1
HMGCS2	3158	broad.mit.edu	36	1	120112963	120112963	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:120112963G>A	uc001eid.1	-	c.28C>T	c.(28-30)CGC>TGC	p.R10C		NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2	10					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)												0.306818	70.190039	73.119514	27	61	GG		KEEP	---	---	---	---	capture		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	Missense_Mutation	SNP	120112963	120112963	7524	1	G	A	A	38	38	HMGCS2	A	1	1
DVL1	1855	broad.mit.edu	36	1	1263284	1263284	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1263284C>T	uc001aer.2	-	c.1575G>A	c.(1573-1575)CCG>CCA	p.P525P	DVL1_uc001aeq.1_Silent_p.P267P|DVL1_uc009vka.1_Silent_p.P208P|DVL1_uc001aeu.1_Silent_p.P284P	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	550					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)								137				0.6	9.726149	9.770022	3	2	CC		KEEP	---	---	---	---	capture		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	Silent	SNP	1263284	1263284	5021	1	C	T	T	27	27	DVL1	T	1	1
HCN3	57657	broad.mit.edu	36	1	153523664	153523664	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153523664C>T	uc001fjz.1	+	c.1554C>T	c.(1552-1554)AGC>AGT	p.S518S		NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	518	Cytoplasmic (Potential).|cAMP.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)													0.388889	98.603633	99.577192	35	55	CC		KEEP	---	---	---	---	capture	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Silent	SNP	153523664	153523664	7280	1	C	T	T	27	27	HCN3	T	1	1
YY1AP1	55249	broad.mit.edu	36	1	153896620	153896620	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153896620C>T	uc001flh.1	-	c.2059G>A	c.(2059-2061)GGT>AGT	p.G687S	YY1AP1_uc001flg.1_Missense_Mutation_p.G354S|YY1AP1_uc009wqt.1_Missense_Mutation_p.G538S|YY1AP1_uc009wqu.1_Missense_Mutation_p.G402S|YY1AP1_uc001fll.1_Missense_Mutation_p.G569S|YY1AP1_uc009wqv.1_Missense_Mutation_p.G286S|YY1AP1_uc001flm.1_Missense_Mutation_p.G558S|YY1AP1_uc001fli.1_Missense_Mutation_p.G569S|YY1AP1_uc009wqw.1_Missense_Mutation_p.G538S|YY1AP1_uc001flj.1_Missense_Mutation_p.G549S|YY1AP1_uc001flk.1_Missense_Mutation_p.G558S|YY1AP1_uc001flo.1_Missense_Mutation_p.G503S|YY1AP1_uc001flp.1_Missense_Mutation_p.G569S|YY1AP1_uc001fln.1_Missense_Mutation_p.G615S	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	615					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)													0.275862	64.870703	68.800784	24	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153896620	153896620	18091	1	C	T	T	23	23	YY1AP1	T	1	1
ARHGEF11	9826	broad.mit.edu	36	1	155173357	155173357	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155173357G>A	uc001fqn.1	-	c.4505C>T	c.(4504-4506)ACG>ATG	p.T1502M	ARHGEF11_uc001fqo.1_Missense_Mutation_p.T1462M	NM_198236	NP_937879	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1462					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|pancreas(1)|lung(1)|kidney(1)|pleura(1)	7	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.374468	249.563637	252.806005	88	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155173357	155173357	910	1	G	A	A	40	40	ARHGEF11	A	1	1
ARHGEF11	9826	broad.mit.edu	36	1	155180366	155180366	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155180366G>A	uc001fqn.1	-	c.3220C>T	c.(3220-3222)CGC>TGC	p.R1074C	ARHGEF11_uc001fqo.1_Missense_Mutation_p.R1034C	NM_198236	NP_937879	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1034	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|pancreas(1)|lung(1)|kidney(1)|pleura(1)	7	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.351064	93.950355	95.788005	33	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155180366	155180366	910	1	G	A	A	39	39	ARHGEF11	A	1	1
ARHGEF11	9826	broad.mit.edu	36	1	155184781	155184781	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155184781G>A	uc001fqn.1	-	c.2059C>T	c.(2059-2061)CGC>TGC	p.R687C	ARHGEF11_uc001fqo.1_Missense_Mutation_p.R647C|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R166C	NM_198236	NP_937879	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	647					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|pancreas(1)|lung(1)|kidney(1)|pleura(1)	7	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.48	69.586707	69.604452	24	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	155184781	155184781	910	1	G	A	A	37	37	ARHGEF11	A	1	1
SPTA1	6708	broad.mit.edu	36	1	156847685	156847685	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156847685C>T	uc001fst.1	-	c.7253G>A	c.(7252-7254)GGC>GAC	p.G2418D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2418				GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994).	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)													0.272727	53.240499	56.826173	21	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156847685	156847685	15630	1	C	T	T	26	26	SPTA1	T	2	2
TMEM82	388595	broad.mit.edu	36	1	15945991	15945991	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15945991C>T	uc001axc.1	+	c.800C>T	c.(799-801)ACG>ATG	p.T267M		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	267	Leu-rich.|Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)												0.421053	22.296103	22.399555	8	11	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	15945991	15945991	16745	1	C	T	T	19	19	TMEM82	T	1	1
TOMM40L	84134	broad.mit.edu	36	1	159463677	159463677	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159463677G>A	uc001fzd.1	+	c.189G>A	c.(187-189)GCG>GCA	p.A63A	TOMM40L_uc009wue.1_Intron|TOMM40L_uc009wuf.1_Non-coding_Transcript|TOMM40L_uc001fze.1_Silent_p.A63A	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40	63					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.464646	138.743224	138.850406	46	53	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00376)		Silent	SNP	159463677	159463677	16900	1	G	A	A	38	38	TOMM40L	A	1	1
NOS1AP	9722	broad.mit.edu	36	1	160591664	160591664	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:160591664C>T	uc001gbv.2	+	c.659C>T	c.(658-660)GCG>GTG	p.A220V	NOS1AP_uc001gbw.2_Missense_Mutation_p.A215V	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	220					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)	2	all_hematologic(112;0.203)													0.388158	169.793149	171.457833	59	93	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.0537)		Missense_Mutation	SNP	160591664	160591664	10945	1	C	T	T	27	27	NOS1AP	T	1	1
RXRG	6258	broad.mit.edu	36	1	163645479	163645479	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:163645479G>A	uc001gda.1	-	c.986C>T	c.(985-987)ACG>ATG	p.T329M		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	329	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)									0.162162	11.327049	15.342084	6	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	163645479	163645479	14245	1	G	A	A	40	40	RXRG	A	1	1
ADCY10	55811	broad.mit.edu	36	1	166060429	166060429	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:166060429G>A	uc001ger.1	-	c.3961C>T	c.(3961-3963)CGA>TGA	p.R1321*	ADCY10_uc009wvj.1_Non-coding_Transcript|ADCY10_uc009wvk.1_Nonsense_Mutation_p.R1229*	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	soluble adenylyl cyclase	1321					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.413793	299.16249	300.666882	96	136	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	166060429	166060429	294	1	G	A	A	39	39	ADCY10	A	5	1
NME7	29922	broad.mit.edu	36	1	167560302	167560302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167560302G>A	uc001gfu.1	-	c.64C>T	c.(64-66)CGA>TGA	p.R22*	NME7_uc001gft.1_5'UTR|NME7_uc001gfv.1_Nonsense_Mutation_p.R22*	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	nucleoside-diphosphate kinase 7 isoform a	22	DM10.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)	1	all_hematologic(923;0.208)													0.340659	90.996682	93.039034	31	60	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	167560302	167560302	10899	1	G	A	A	37	37	NME7	A	5	1
F5	2153	broad.mit.edu	36	1	167792644	167792644	+	Silent	SNP	G	A	A	rs9332578	by-cluster,by-frequency,by-hapmap	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:167792644G>A	uc001ggg.1	-	c.816C>T	c.(814-816)AAC>AAT	p.N272N		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	272	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.3875	89.723062	90.60427	31	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	167792644	167792644	5542	1	G	A	A	40	40	F5	A	1	1
CROCC	9696	broad.mit.edu	36	1	17147968	17147968	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17147968C>T	uc001azt.2	+	c.2796C>T	c.(2794-2796)GCC>GCT	p.A932A	CROCC_uc001azu.2_Silent_p.A235A|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	932	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)												0.181818	20.321301	25.549674	10	45	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	Silent	SNP	17147968	17147968	4032	1	C	T	T	23	23	CROCC	T	1	1
CROCC	9696	broad.mit.edu	36	1	17154473	17154473	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17154473G>A	uc001azt.2	+	c.3545G>A	c.(3544-3546)CGC>CAC	p.R1182H	CROCC_uc001azu.2_Missense_Mutation_p.R485H	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1182	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)												0.344828	25.440793	26.057612	10	19	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	Missense_Mutation	SNP	17154473	17154473	4032	1	G	A	A	38	38	CROCC	A	1	1
ASTN1	460	broad.mit.edu	36	1	175266699	175266699	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:175266699G>A	uc001glc.1	-	c.878C>T	c.(877-879)GCC>GTC	p.A293V	ASTN1_uc001glb.1_Missense_Mutation_p.A293V|ASTN1_uc001gld.1_Missense_Mutation_p.A293V|ASTN1_uc009wwx.1_Missense_Mutation_p.A293V|ASTN1_uc001gle.2_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	293					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.447368	100.245325	100.427689	34	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	175266699	175266699	1083	1	G	A	A	42	42	ASTN1	A	2	2
CEP350	9857	broad.mit.edu	36	1	178279884	178279884	+	Silent	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:178279884A>G	uc001gnt.1	+	c.4575A>G	c.(4573-4575)TCA>TCG	p.S1525S		NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1525	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4														0.5	15.574892	15.574892	5	5	AA		KEEP	---	---	---	---	capture			Silent	SNP	178279884	178279884	3387	1	A	G	G	8	8	CEP350	G	4	4
ACTL8	81569	broad.mit.edu	36	1	18025044	18025044	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18025044G>A	uc001bat.1	+	c.544G>A	c.(544-546)GCC>ACC	p.A182T		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	182						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)										OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.391304	49.33824	49.814532	18	28	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	Missense_Mutation	SNP	18025044	18025044	203	1	G	A	A	38	38	ACTL8	A	1	1
HMCN1	83872	broad.mit.edu	36	1	184169389	184169389	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184169389G>A	uc001grq.1	+	c.1638G>A	c.(1636-1638)GCG>GCA	p.A546A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	546	Ig-like C2-type 2.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.46729	161.645882	161.745054	50	57	GG		KEEP	---	---	---	---	capture			Silent	SNP	184169389	184169389	7511	1	G	A	A	39	39	HMCN1	A	1	1
KLHDC7A	127707	broad.mit.edu	36	1	18682220	18682220	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:18682220G>A	uc001bax.1	+	c.2158G>A	c.(2158-2160)GTG>ATG	p.V720M	KLHDC7A_uc009vpg.1_Missense_Mutation_p.V502M	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	720						integral to membrane				ovary(2)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)												0.344828	108.131438	110.567543	40	76	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	18682220	18682220	8672	1	G	A	A	40	40	KLHDC7A	A	1	1
UBR4	23352	broad.mit.edu	36	1	19351551	19351551	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19351551C>T	uc001bbi.1	-	c.6839G>A	c.(6838-6840)CGC>CAC	p.R2280H	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.R217H|UBR4_uc001bbm.1_Missense_Mutation_p.R1492H	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2280					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)												0.377246	178.885031	181.092872	63	104	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Missense_Mutation	SNP	19351551	19351551	17462	1	C	T	T	27	27	UBR4	T	1	1
CACNA1S	779	broad.mit.edu	36	1	199318982	199318982	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199318982C>T	uc001gvv.1	-	c.1324G>A	c.(1324-1326)GTT>ATT	p.V442I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	442	II.|Helical; Name=S1 of repeat II; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.310345	68.990351	71.779448	27	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	199318982	199318982	2663	1	C	T	T	19	19	CACNA1S	T	1	1
NAV1	89796	broad.mit.edu	36	1	200026447	200026447	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200026447G>A	uc001gwu.2	+	c.3251G>A	c.(3250-3252)CGG>CAG	p.R1084Q	NAV1_uc001gwv.1_Missense_Mutation_p.R584Q|NAV1_uc001gww.1_Missense_Mutation_p.R685Q|NAV1_uc001gwx.2_Missense_Mutation_p.R693Q|NAV1_uc001gwy.1_Missense_Mutation_p.R457Q	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1084	Potential.				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(2)|ovary(1)	3														0.439024	169.739589	170.136795	54	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200026447	200026447	10579	1	G	A	A	39	39	NAV1	A	1	1
IPO9	55705	broad.mit.edu	36	1	200110009	200110009	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200110009C>T	uc001gwz.1	+	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	907					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2														0.462185	167.513848	167.661933	55	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	200110009	200110009	8100	1	C	T	T	19	19	IPO9	T	1	1
PLA2G5	5322	broad.mit.edu	36	1	20288900	20288900	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20288900C>T	uc001bcx.1	+	c.310C>T	c.(310-312)CGG>TGG	p.R104W	PLA2G5_uc001bcw.1_Non-coding_Transcript|PLA2G5_uc001bcy.1_Missense_Mutation_p.R73W	NM_000929	NP_000920	P39877	PA2G5_HUMAN	phospholipase A2, group V precursor	73					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)												0.382979	52.438778	53.003163	18	29	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	Missense_Mutation	SNP	20288900	20288900	12433	1	C	T	T	27	27	PLA2G5	T	1	1
SLC26A9	115019	broad.mit.edu	36	1	204163660	204163660	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204163660G>A	uc001hdp.1	-	c.1094C>T	c.(1093-1095)TCG>TTG	p.S365L	SLC26A9_uc001hdo.1_Missense_Mutation_p.S33L|SLC26A9_uc001hdq.1_Missense_Mutation_p.S365L	NM_134325	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform b	365						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1	Breast(84;0.201)													0.424242	202.315073	203.141861	70	95	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0458)		Missense_Mutation	SNP	204163660	204163660	15021	1	G	A	A	37	37	SLC26A9	A	1	1
LGTN	1939	broad.mit.edu	36	1	204840281	204840281	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204840281C>T	uc001heh.1	-	c.907G>A	c.(907-909)GAA>AAA	p.E303K	LGTN_uc009xbw.1_Missense_Mutation_p.E179K	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	303					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)													0.3125	110.169311	114.166745	40	88	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.166)		Missense_Mutation	SNP	204840281	204840281	9086	1	C	T	T	29	29	LGTN	T	2	2
PIGR	5284	broad.mit.edu	36	1	205172466	205172466	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205172466C>T	uc001hez.1	-	c.1966G>A	c.(1966-1968)GTG>ATG	p.V656M	PIGR_uc009xbz.1_Missense_Mutation_p.V656M	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	656	Helical; (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2														0.293103	88.311091	92.75243	34	82	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205172466	205172466	12321	1	C	T	T	19	19	PIGR	T	1	1
SH2D5	400745	broad.mit.edu	36	1	20923308	20923308	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20923308G>A	uc009vpy.1	-	c.654C>T	c.(652-654)GGC>GGT	p.G218G	SH2D5_uc001bdt.1_Silent_p.G134G|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096631	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 1	134											0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)												0.47	129.822294	129.899377	47	53	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	Silent	SNP	20923308	20923308	14728	1	G	A	A	42	42	SH2D5	A	2	2
HSPG2	3339	broad.mit.edu	36	1	22047854	22047854	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22047854C>T	uc009vqd.1	-	c.7609G>A	c.(7609-7611)GTC>ATC	p.V2537I	HSPG2_uc001bfj.1_Missense_Mutation_p.V2536I	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2536	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Becaplermin(DB00102)|Palifermin(DB00039)									0.325	67.526453	69.698627	26	54	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Missense_Mutation	SNP	22047854	22047854	7730	1	C	T	T	19	19	HSPG2	T	1	1
HSPG2	3339	broad.mit.edu	36	1	22061139	22061139	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22061139G>A	uc009vqd.1	-	c.4800C>T	c.(4798-4800)TAC>TAT	p.Y1600Y	HSPG2_uc001bfj.1_Silent_p.Y1599Y	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1599	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			Becaplermin(DB00102)|Palifermin(DB00039)									0.378151	125.348679	126.897756	45	74	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Silent	SNP	22061139	22061139	7730	1	G	A	A	40	40	HSPG2	A	1	1
OBSCN	84033	broad.mit.edu	36	1	226469968	226469968	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226469968C>T	uc009xez.1	+	c.1910C>T	c.(1909-1911)ACG>ATG	p.T637M	OBSCN_uc001hsn.1_Missense_Mutation_p.T637M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	637	Ig-like 6.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.3	8.020952	8.378419	3	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226469968	226469968	11217	1	C	T	T	19	19	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226471367	226471367	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226471367C>T	uc009xez.1	+	c.2408C>T	c.(2407-2409)GCG>GTG	p.A803V	OBSCN_uc001hsn.1_Missense_Mutation_p.A803V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	803	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.181818	15.371975	19.559005	8	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226471367	226471367	11217	1	C	T	T	27	27	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226575953	226575953	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226575953C>T	uc009xez.1	+	c.14788C>T	c.(14788-14790)CGC>TGC	p.R4930C	OBSCN_uc001hsn.1_Missense_Mutation_p.R4930C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4930	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.46875	48.023446	48.050555	15	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226575953	226575953	11217	1	C	T	T	23	23	OBSCN	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226605253	226605253	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226605253G>A	uc009xez.1	+	c.18405G>A	c.(18403-18405)CCG>CCA	p.P6135P	OBSCN_uc001hsn.1_Silent_p.P6135P|OBSCN_uc001hsr.1_Silent_p.P764P|OBSCN_uc009xfa.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6135	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.421053	46.097065	46.302705	16	22	GG		KEEP	---	---	---	---	capture			Silent	SNP	226605253	226605253	11217	1	G	A	A	40	40	OBSCN	A	1	1
GALNT2	2590	broad.mit.edu	36	1	228448519	228448519	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:228448519G>A	uc001htt.1	+	c.817G>A	c.(817-819)GGT>AGT	p.G273S		NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	273	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)												0.375	140.445231	142.091481	45	75	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	228448519	228448519	6477	1	G	A	A	39	39	GALNT2	A	1	1
EXOC8	149371	broad.mit.edu	36	1	229538776	229538776	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:229538776G>A	uc001huq.1	-	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C	C1orf124_uc001hur.1_5'Flank|C1orf124_uc001hus.1_5'Flank|C1orf124_uc001hut.1_5'Flank	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	447					exocytosis|protein transport	growth cone|nucleus	protein binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)												0.361702	98.439993	100.015523	34	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	229538776	229538776	5504	1	G	A	A	37	37	EXOC8	A	1	1
EPHB2	2048	broad.mit.edu	36	1	22983808	22983808	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:22983808C>T	uc009vqj.1	+	c.463C>T	c.(463-465)CGC>TGC	p.R155C	EPHB2_uc001bge.1_Missense_Mutation_p.R155C|EPHB2_uc001bgf.1_Missense_Mutation_p.R155C	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	155	Extracellular (Potential).				axon guidance|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)								437				0.37931	66.439222	67.179181	22	36	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	Missense_Mutation	SNP	22983808	22983808	5368	1	C	T	T	23	23	EPHB2	T	1	1
ACTN2	88	broad.mit.edu	36	1	234967056	234967056	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:234967056G>A	uc001hyf.2	+	c.795G>A	c.(793-795)GCG>GCA	p.A265A	ACTN2_uc001hyg.2_Silent_p.A57A|ACTN2_uc009xgi.1_Silent_p.A265A|ACTN2_uc001hyh.2_5'Flank	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	265					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)												0.26087	31.679835	34.060224	12	34	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		Silent	SNP	234967056	234967056	206	1	G	A	A	39	39	ACTN2	A	1	1
E2F2	1870	broad.mit.edu	36	1	23720992	23720992	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:23720992G>A	uc001bhe.1	-	c.502C>T	c.(502-504)CGC>TGC	p.R168C		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	168	Leucine-zipper.|DEF box.|Potential.				G1 phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)												0.456	165.64788	165.859415	57	68	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	Missense_Mutation	SNP	23720992	23720992	5053	1	G	A	A	38	38	E2F2	A	1	1
AHCTF1	25909	broad.mit.edu	36	1	245070877	245070877	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245070877G>A	uc001ibv.1	-	c.6682C>T	c.(6682-6684)CGG>TGG	p.R2228W	AHCTF1_uc009xgs.1_Missense_Mutation_p.S1052L|AHCTF1_uc001ibu.1_Missense_Mutation_p.R2219W	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	2219	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)				Colon(145;197 1800 4745 15099 26333)								0.421687	107.710454	108.154886	35	48	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		Missense_Mutation	SNP	245070877	245070877	411	1	G	A	A	37	37	AHCTF1	A	1	1
AHCTF1	25909	broad.mit.edu	36	1	245106930	245106930	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245106930C>T	uc001ibv.1	-	c.2909G>A	c.(2908-2910)CGT>CAT	p.R970H	AHCTF1_uc009xgs.1_De_novo_Start_InFrame|AHCTF1_uc001ibu.1_Missense_Mutation_p.R961H|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	961	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)				Colon(145;197 1800 4745 15099 26333)								0.375	119.622259	121.158534	42	70	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		Missense_Mutation	SNP	245106930	245106930	411	1	C	T	T	19	19	AHCTF1	T	1	1
ZNF496	84838	broad.mit.edu	36	1	245558618	245558618	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245558618G>A	uc009xgv.1	-	c.564C>T	c.(562-564)AGC>AGT	p.S188S	ZNF496_uc001ico.1_Silent_p.S188S|ZNF496_uc001icp.1_Silent_p.S188S	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	188					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)													0.360731	223.266333	227.004424	79	140	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		Silent	SNP	245558618	245558618	18539	1	G	A	A	38	38	ZNF496	A	1	1
NLRP3	114548	broad.mit.edu	36	1	245653938	245653938	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245653938C>T	uc001icr.1	+	c.570C>T	c.(568-570)ATC>ATT	p.I190I	NLRP3_uc001ics.1_Silent_p.I190I|NLRP3_uc001ict.1_Silent_p.I188I|NLRP3_uc001icu.1_Silent_p.I190I|NLRP3_uc001icw.1_Silent_p.I190I|NLRP3_uc001icv.1_Silent_p.I190I	NM_001079821	NP_004886	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	190					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)							p.I190I(KE97-Tumor)	412				0.238095	24.229805	26.860934	10	32	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		Silent	SNP	245653938	245653938	10881	1	C	T	T	31	31	NLRP3	T	1	1
OR2T6	254879	broad.mit.edu	36	1	246617983	246617983	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246617983G>A	uc001iei.1	+	c.451G>A	c.(451-453)GGT>AGT	p.G151S		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	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)													0.375	72.983713	73.861736	24	40	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		Missense_Mutation	SNP	246617983	246617983	11435	1	G	A	A	39	39	OR2T6	A	1	1
OR2T6	254879	broad.mit.edu	36	1	246618198	246618198	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246618198C>T	uc001iei.1	+	c.666C>T	c.(664-666)CTC>CTT	p.L222L		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	222	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	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)													0.393701	141.909197	143.169345	50	77	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		Silent	SNP	246618198	246618198	11435	1	C	T	T	29	29	OR2T6	T	2	2
ZDHHC18	84243	broad.mit.edu	36	1	27049426	27049426	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27049426C>T	uc001bnb.1	+	c.694C>T	c.(694-696)CGG>TGG	p.R232W		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	232	DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)												0.381443	102.140703	103.34009	37	60	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)	Missense_Mutation	SNP	27049426	27049426	18196	1	C	T	T	19	19	ZDHHC18	T	1	1
NUDC	10726	broad.mit.edu	36	1	27142113	27142113	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27142113C>T	uc001bnh.1	+	c.882C>T	c.(880-882)GAC>GAT	p.D294D	NUDC_uc001bng.1_Silent_p.D237D|NUDC_uc009vsq.1_Silent_p.D211D	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	nuclear distribution gene C homolog	237	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			ovary(1)	1														0.445545	133.561665	133.822468	45	56	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	Silent	SNP	27142113	27142113	11126	1	C	T	T	19	19	NUDC	T	1	1
SLC9A1	6548	broad.mit.edu	36	1	27313087	27313087	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27313087G>A	uc001bnm.1	-	c.630C>T	c.(628-630)GCC>GCT	p.A210A	SLC9A1_uc001bnn.1_Silent_p.A210A	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	210	Helical; Name=M5; (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2					Amiloride(DB00594)									0.3	63.364135	66.226365	24	56	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Silent	SNP	27313087	27313087	15206	1	G	A	A	39	39	SLC9A1	A	1	1
AHDC1	27245	broad.mit.edu	36	1	27749572	27749572	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:27749572C>T	uc009vsy.1	-	c.1642G>A	c.(1642-1644)GGC>AGC	p.G548S	AHDC1_uc009vsz.1_Missense_Mutation_p.G548S|AHDC1_uc009vta.1_Missense_Mutation_p.G548S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	548	A.T hook 2.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)												0.404762	51.890537	52.216042	17	25	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	Missense_Mutation	SNP	27749572	27749572	415	1	C	T	T	23	23	AHDC1	T	1	1
PUM1	9698	broad.mit.edu	36	1	31210232	31210232	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31210232G>A	uc001bsk.1	-	c.2307C>T	c.(2305-2307)AAC>AAT	p.N769N	PUM1_uc001bsf.1_Silent_p.N399N|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.N733N|PUM1_uc001bsi.1_Silent_p.N733N|PUM1_uc001bsj.1_Silent_p.N707N	NM_001020658	NP_001018494	Q14671	PUM1_HUMAN	pumilio 1 isoform 1	733	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)												0.403361	275.356196	277.297731	96	142	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	Silent	SNP	31210232	31210232	13283	1	G	A	A	40	40	PUM1	A	1	1
PUM1	9698	broad.mit.edu	36	1	31211476	31211476	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31211476C>T	uc001bsk.1	-	c.2134G>A	c.(2134-2136)GGA>AGA	p.G712R	PUM1_uc001bsf.1_Missense_Mutation_p.G342R|PUM1_uc001bsg.1_Missense_Mutation_p.G489R|PUM1_uc001bsh.1_Missense_Mutation_p.G676R|PUM1_uc001bsi.1_Missense_Mutation_p.G676R|PUM1_uc001bsj.1_Missense_Mutation_p.G650R	NM_001020658	NP_001018494	Q14671	PUM1_HUMAN	pumilio 1 isoform 1	676	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)												0.373737	231.604526	234.375067	74	124	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	31211476	31211476	13283	1	C	T	T	23	23	PUM1	T	1	1
PUM1	9698	broad.mit.edu	36	1	31251317	31251317	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31251317C>T	uc001bsk.1	-	c.798G>A	c.(796-798)CCG>CCA	p.P266P	PUM1_uc001bsg.1_Silent_p.P42P|PUM1_uc001bsh.1_Silent_p.P230P|PUM1_uc001bsi.1_Silent_p.P230P|PUM1_uc001bsj.1_Silent_p.P230P	NM_001020658	NP_001018494	Q14671	PUM1_HUMAN	pumilio 1 isoform 1	230					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)												0.333333	123.842768	126.864278	41	82	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	Silent	SNP	31251317	31251317	13283	1	C	T	T	23	23	PUM1	T	1	1
HCRTR1	3061	broad.mit.edu	36	1	31857738	31857738	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31857738G>A	uc009vtx.1	+	c.218G>A	c.(217-219)CGG>CAG	p.R73Q	HCRTR1_uc001btb.1_Intron|HCRTR1_uc001btc.2_Intron|HCRTR1_uc001btd.1_Missense_Mutation_p.R73Q	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	73	Cytoplasmic (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)												0.34	47.451654	48.58694	17	33	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.053)	Missense_Mutation	SNP	31857738	31857738	7284	1	G	A	A	39	39	HCRTR1	A	1	1
KIAA1522	57648	broad.mit.edu	36	1	33008450	33008450	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33008450G>A	uc001bvu.1	+	c.1083G>A	c.(1081-1083)CCG>CCA	p.P361P	KIAA1522_uc001bvv.1_Silent_p.P302P	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	302											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)												0.365217	108.24463	110.070596	42	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	33008450	33008450	8547	1	G	A	A	38	38	KIAA1522	A	1	1
ZNF362	149076	broad.mit.edu	36	1	33537194	33537194	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33537194C>T	uc001bxc.1	+	c.1223C>T	c.(1222-1224)ACG>ATG	p.T408M		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				Pancreas(162;1431 2676 35353 38425)						OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.386139	112.905787	114.051797	39	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33537194	33537194	18460	1	C	T	T	19	19	ZNF362	T	1	1
MEGF6	1953	broad.mit.edu	36	1	3412588	3412588	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3412588C>T	uc001akl.1	-	c.1862G>A	c.(1861-1863)CGC>CAC	p.R621H	MEGF6_uc001akk.1_Missense_Mutation_p.R516H	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3	621	EGF-like 11.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)				Ovarian(73;978 3658)								0.5	17.250205	17.250205	6	6	CC		KEEP	---	---	---	---	capture		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	Missense_Mutation	SNP	3412588	3412588	9851	1	C	T	T	27	27	MEGF6	T	1	1
TP73	7161	broad.mit.edu	36	1	3614018	3614018	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3614018C>T	uc001akp.2	+	c.232C>T	c.(232-234)CGC>TGC	p.R78C	TP73_uc001akq.1_Missense_Mutation_p.R78C|TP73_uc001akr.2_Missense_Mutation_p.R29C|TP73_uc009vlk.1_Missense_Mutation_p.R29C|TP73_uc001aks.2_Missense_Mutation_p.R29C|TP73_uc009vll.1_Missense_Mutation_p.R7C	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	78					cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)								1049				0.423077	182.255488	183.072546	66	90	CC		KEEP	---	---	---	---	capture		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	Missense_Mutation	SNP	3614018	3614018	16937	1	C	T	T	23	23	TP73	T	1	1
GRIK3	2899	broad.mit.edu	36	1	37057993	37057993	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37057993C>T	uc001caz.2	-	c.1804G>A	c.(1804-1806)GAG>AAG	p.E602K	GRIK3_uc001cba.1_Missense_Mutation_p.E602K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	602	Cytoplasmic (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.424242	40.44515	40.610143	14	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37057993	37057993	7054	1	C	T	T	31	31	GRIK3	T	1	1
GNL2	29889	broad.mit.edu	36	1	37828902	37828902	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37828902G>A	uc001cbk.1	-	c.376C>T	c.(376-378)CGG>TGG	p.R126W	GNL2_uc009vve.1_Missense_Mutation_p.R126W	NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	126					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)												0.305882	72.118337	74.974896	26	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37828902	37828902	6805	1	G	A	A	39	39	GNL2	A	1	1
RSPO1	284654	broad.mit.edu	36	1	37854762	37854762	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37854762G>A	uc001cbl.1	-	c.267C>T	c.(265-267)CCC>CCT	p.P89P	RSPO1_uc009vvf.1_Silent_p.P62P|RSPO1_uc001cbm.1_Silent_p.P89P|RSPO1_uc009vvg.1_Silent_p.P89P	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1	89					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GBM(122;680 2230 27822 42821)								0.391753	113.031596	114.025816	38	59	GG		KEEP	---	---	---	---	capture			Silent	SNP	37854762	37854762	14189	1	G	A	A	39	39	RSPO1	A	1	1
SLFNL1	200172	broad.mit.edu	36	1	41258833	41258833	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41258833G>A	uc001cgm.1	-	c.87C>T	c.(85-87)CCC>CCT	p.P29P	SLFNL1_uc009vwf.1_Silent_p.P13P|SLFNL1_uc001cgn.1_Silent_p.P13P|SLFNL1_uc009vwg.1_Silent_p.P13P	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	29							ATP binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)												0.380282	163.11557	164.900758	54	88	GG		KEEP	---	---	---	---	capture			Silent	SNP	41258833	41258833	15236	1	G	A	A	39	39	SLFNL1	A	1	1
LEPRE1	64175	broad.mit.edu	36	1	43000614	43000614	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43000614G>A	uc001chx.2	-	c.585C>T	c.(583-585)GCC>GCT	p.A195A	LEPRE1_uc001chv.2_Silent_p.A195A|LEPRE1_uc001chw.2_Silent_p.A195A|LEPRE1_uc001chy.2_Silent_p.A195A	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1	195					negative regulation of cell proliferation|oxidation-reduction process	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.312236	215.581657	223.010429	74	163	GG		KEEP	---	---	---	---	capture			Silent	SNP	43000614	43000614	9053	1	G	A	A	39	39	LEPRE1	A	1	1
C1orf210	149466	broad.mit.edu	36	1	43521349	43521349	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43521349C>T	uc001cit.2	-	c.36G>A	c.(34-36)TCG>TCA	p.S12S		NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	hypothetical protein LOC149466	12	Extracellular (Potential).					integral to membrane					0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.367347	52.030676	52.790948	18	31	CC		KEEP	---	---	---	---	capture			Silent	SNP	43521349	43521349	2098	1	C	T	T	23	23	C1orf210	T	1	1
KIAA0467	23334	broad.mit.edu	36	1	43686228	43686228	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43686228C>T	uc001cjk.1	+	c.6865C>T	c.(6865-6867)CGG>TGG	p.R2289W	KIAA0467_uc001cjl.1_Missense_Mutation_p.R277W	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3188						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.244444	54.241682	59.572674	22	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43686228	43686228	8485	1	C	T	T	27	27	KIAA0467	T	1	1
TCTEX1D4	343521	broad.mit.edu	36	1	45044867	45044867	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:45044867G>A	uc001cmp.1	-	c.61C>T	c.(61-63)CGG>TGG	p.R21W	TCTEX1D4_uc009vxj.1_Missense_Mutation_p.R21W|BTBD19_uc001cmq.1_5'Flank|BTBD19_uc001cmr.1_5'Flank	NM_001013632	NP_001013654	Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	21										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.5	15.07479	15.07479	5	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45044867	45044867	16247	1	G	A	A	38	38	TCTEX1D4	A	1	1
MAST2	23139	broad.mit.edu	36	1	46269364	46269364	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46269364C>T	uc001cov.1	+	c.2807C>T	c.(2806-2808)GCG>GTG	p.A936V	MAST2_uc001cow.1_Missense_Mutation_p.A936V|MAST2_uc001coy.1_Missense_Mutation_p.A610V|MAST2_uc001cpa.2_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	936					protein phosphorylation|regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|breast(1)	9	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)									975				0.441176	42.719153	42.821742	15	19	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46269364	46269364	9709	1	C	T	T	27	27	MAST2	T	1	1
MKNK1	8569	broad.mit.edu	36	1	46796905	46796905	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:46796905G>A	uc001cqb.1	-	c.1327C>T	c.(1327-1329)CGC>TGC	p.R443C	MKNK1_uc001cpz.1_Missense_Mutation_p.R307C|MKNK1_uc001cqc.1_Missense_Mutation_p.R402C|MKNK1_uc009vyi.1_3'UTR|MKNK1_uc001cqa.1_3'UTR	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	443					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)									255				0.37931	90.156496	91.26697	33	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46796905	46796905	9994	1	G	A	A	40	40	MKNK1	A	1	1
FOXD2	2306	broad.mit.edu	36	1	47676739	47676739	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47676739G>A	uc001crm.1	+	c.345G>A	c.(343-345)CCG>CCA	p.P115P		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	115					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0														0.5	17.94926	17.94926	6	6	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.0908)	Silent	SNP	47676739	47676739	6239	1	G	A	A	40	40	FOXD2	A	1	1
AGBL4	84871	broad.mit.edu	36	1	49105483	49105483	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:49105483G>A	uc001cru.2	-	c.601C>T	c.(601-603)CGA>TGA	p.R201*	AGBL4_uc001crv.1_Nonsense_Mutation_p.R54*	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	201					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2														0.461538	55.416964	55.457429	18	21	GG		KEEP	---	---	---	---	capture		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	Nonsense_Mutation	SNP	49105483	49105483	380	1	G	A	A	40	40	AGBL4	A	5	1
FAF1	11124	broad.mit.edu	36	1	50728873	50728873	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:50728873C>T	uc009vyx.1	-	c.1628G>A	c.(1627-1629)CGC>CAC	p.R543H	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc001cse.1_Missense_Mutation_p.R543H	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	543					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2														0.397213	334.588892	337.242224	114	173	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	Missense_Mutation	SNP	50728873	50728873	5566	1	C	T	T	27	27	FAF1	T	1	1
NRD1	4898	broad.mit.edu	36	1	52029887	52029887	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:52029887C>T	uc001ctc.2	-	c.3115G>A	c.(3115-3117)GGG>AGG	p.G1039R	NRD1_uc009vzb.1_Missense_Mutation_p.G734R|NRD1_uc001ctd.2_Missense_Mutation_p.G971R|NRD1_uc001cte.2_Missense_Mutation_p.G907R|NRD1_uc001ctf.2_Missense_Mutation_p.G971R	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	970					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0														0.412088	228.911671	230.134121	75	107	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52029887	52029887	11050	1	C	T	T	23	23	NRD1	T	1	1
CDCP2	200008	broad.mit.edu	36	1	54379429	54379429	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54379429G>A	uc001cwv.1	-	c.693C>T	c.(691-693)CAC>CAT	p.H231H		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	231	CUB 2.					extracellular region				ovary(1)	1														0.452381	112.342146	112.507455	38	46	GG		KEEP	---	---	---	---	capture			Silent	SNP	54379429	54379429	3223	1	G	A	A	40	40	CDCP2	A	1	1
C1orf175	374977	broad.mit.edu	36	1	54939512	54939512	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54939512C>T	uc001cxp.1	+	c.3205C>T	c.(3205-3207)CGG>TGG	p.R1069W	C1orf175_uc001cxq.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc001cxs.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Non-coding_Transcript|C1orf175_uc009vzr.1_Missense_Mutation_p.R274W	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	1072	HEAT 2.					integral to membrane	binding				0														0.35	54.266793	55.453155	21	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54939512	54939512	2083	1	C	T	T	27	27	C1orf175	T	1	1
C8A	731	broad.mit.edu	36	1	57150678	57150678	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:57150678C>T	uc001cyo.1	+	c.1395C>T	c.(1393-1395)CAC>CAT	p.H465H		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	465	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)	2														0.387097	65.485756	66.177769	24	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	57150678	57150678	2525	1	C	T	T	19	19	C8A	T	1	1
DAB1	1600	broad.mit.edu	36	1	57253676	57253676	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:57253676G>A	uc001cys.1	-	c.912C>T	c.(910-912)GGC>GGT	p.G304G	DAB1_uc001cyt.1_Silent_p.G302G|DAB1_uc001cyq.1_Silent_p.G302G|DAB1_uc001cyr.1_Silent_p.G218G|DAB1_uc009vzw.1_Silent_p.G286G|DAB1_uc009vzx.1_Silent_p.G304G	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	337					cell differentiation|nervous system development					ovary(1)	1									p.G302G(HRT18-Tumor)	395				0.142857	7.319582	12.486868	6	36	GG		KEEP	---	---	---	---	capture			Silent	SNP	57253676	57253676	4383	1	G	A	A	38	38	DAB1	A	1	1
CHD5	26038	broad.mit.edu	36	1	6111706	6111706	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6111706C>T	uc001amb.1	-	c.3398G>A	c.(3397-3399)CGC>CAC	p.R1133H	CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript|CHD5_uc009vlx.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1133	Helicase C-terminal.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)								2304				0.378378	41.044018	41.523079	14	23	CC		KEEP	---	---	---	---	capture		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	Missense_Mutation	SNP	6111706	6111706	3462	1	C	T	T	27	27	CHD5	T	1	1
TNFRSF25	8718	broad.mit.edu	36	1	6444299	6444299	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:6444299G>A	uc001anh.1	-	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	TNFRSF25_uc001ana.1_Missense_Mutation_p.R163C|TNFRSF25_uc001anb.1_Non-coding_Transcript|TNFRSF25_uc001anc.1_Non-coding_Transcript|TNFRSF25_uc001and.1_Missense_Mutation_p.R119C|TNFRSF25_uc009vlz.1_Non-coding_Transcript|TNFRSF25_uc001ane.1_Missense_Mutation_p.R346C|TNFRSF25_uc001anf.1_Missense_Mutation_p.R309C|TNFRSF25_uc001ang.1_Missense_Mutation_p.R301C	NM_148965	NP_683866	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	346	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)												0.352941	16.144521	16.468884	6	11	GG		KEEP	---	---	---	---	capture		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	Missense_Mutation	SNP	6444299	6444299	16837	1	G	A	A	38	38	TNFRSF25	A	1	1
WDR63	126820	broad.mit.edu	36	1	85336820	85336820	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85336820C>T	uc001dkt.1	+	c.1370C>T	c.(1369-1371)CCG>CTG	p.P457L	WDR63_uc009wcl.1_Missense_Mutation_p.P418L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	457										ovary(2)	2														0.463158	283.042136	283.258724	88	102	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	Missense_Mutation	SNP	85336820	85336820	17887	1	C	T	T	23	23	WDR63	T	1	1
SAMD11	148398	broad.mit.edu	36	1	855524	855524	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:855524C>T	uc001abw.1	+	c.199C>T	c.(199-201)CGG>TGG	p.R67W	SAMD11_uc001abv.1_Missense_Mutation_p.R67W	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	67						nucleus					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)												0.363636	10.799591	10.978423	4	7	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	Missense_Mutation	SNP	855524	855524	14296	1	C	T	T	27	27	SAMD11	T	1	1
PKN2	5586	broad.mit.edu	36	1	89024400	89024400	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89024400C>T	uc001dmn.1	+	c.1197C>T	c.(1195-1197)CTC>CTT	p.L399L	PKN2_uc001dmm.1_Silent_p.L399L|PKN2_uc009wcv.1_Silent_p.L399L	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	399	C2.				protein phosphorylation|signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)	2		Lung NSC(277;0.123)								455				0.155172	16.935676	23.52497	9	49	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0136)|Epithelial(280;0.0301)	Silent	SNP	89024400	89024400	12405	1	C	T	T	31	31	PKN2	T	1	1
GBP1	2633	broad.mit.edu	36	1	89297667	89297667	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:89297667C>T	uc001dmx.2	-	c.349G>A	c.(349-351)GCC>ACC	p.A117T		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	117					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.123)												0.207317	74.505446	87.490744	34	130	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0156)|Epithelial(280;0.0291)	Missense_Mutation	SNP	89297667	89297667	6539	1	C	T	T	27	27	GBP1	T	1	1
CCDC18	343099	broad.mit.edu	36	1	93452896	93452896	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93452896G>A	uc001dpq.1	+	c.1858G>A	c.(1858-1860)GTA>ATA	p.V620I	CCDC18_uc009wdl.1_Missense_Mutation_p.V181I	NM_206886	NP_996769			sarcoma antigen NY-SAR-41											ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)												0.356164	76.330353	77.660529	26	47	GG		KEEP	---	---	---	---	capture		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	Missense_Mutation	SNP	93452896	93452896	2916	1	G	A	A	40	40	CCDC18	A	1	1
BCAR3	8412	broad.mit.edu	36	1	93827129	93827129	+	Missense_Mutation	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93827129G>T	uc001dpz.1	-	c.922C>A	c.(922-924)CTC>ATC	p.L308I	BCAR3_uc001dpy.1_Missense_Mutation_p.L217I|BCAR3_uc001dqa.1_Missense_Mutation_p.L308I|BCAR3_uc001dqb.1_Missense_Mutation_p.L308I	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	308					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)												0.377049	64.0097	64.818989	23	38	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	Missense_Mutation	SNP	93827129	93827129	1370	1	G	T	T	35	35	BCAR3	T	3	3
BCAR3	8412	broad.mit.edu	36	1	93912940	93912940	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:93912940C>T	uc001dpz.1	-	c.135G>A	c.(133-135)GTG>GTA	p.V45V	BCAR3_uc001dqa.1_Silent_p.V45V|BCAR3_uc001dqb.1_Silent_p.V45V	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	45					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)												0.359375	62.403419	63.519368	23	41	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	Silent	SNP	93912940	93912940	1370	1	C	T	T	17	17	BCAR3	T	2	2
AGRN	375790	broad.mit.edu	36	1	966921	966921	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:966921C>T	uc001ack.1	+	c.1153C>T	c.(1153-1155)CGC>TGC	p.R385C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin	385	Kazal-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)												0.44	32.122312	32.20054	11	14	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	Missense_Mutation	SNP	966921	966921	400	1	C	T	T	27	27	AGRN	T	1	1
CLSTN1	22883	broad.mit.edu	36	1	9713204	9713204	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:9713204G>A	uc001aqh.1	-	c.2895C>T	c.(2893-2895)AAC>AAT	p.N965N	CLSTN1_uc001aqf.1_Silent_p.N229N|CLSTN1_uc001aqg.1_Silent_p.N598N|CLSTN1_uc001aqi.1_Silent_p.N955N	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	965	Cytoplasmic (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding				0	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)												0.392157	109.078378	110.116204	40	62	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	Silent	SNP	9713204	9713204	3699	1	G	A	A	40	40	CLSTN1	A	1	1
SIRPB1	10326	broad.mit.edu	36	20	1499697	1499697	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:1499697G>A	uc010gai.1	-	c.838C>T	c.(838-840)CGG>TGG	p.R280W	SIRPB1_uc002wfk.2_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	280	Ig-like C1-type 2.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1														0.390244	99.384589	100.248848	32	50	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1499697	1499697	14828	20	G	A	A	39	39	SIRPB1	A	1	1
ZNF133	7692	broad.mit.edu	36	20	18245379	18245379	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:18245379G>A	uc010gcq.1	+	c.1884G>A	c.(1882-1884)ACG>ACA	p.T628T	ZNF133_uc010gcr.1_Silent_p.T628T|ZNF133_uc002wql.2_Silent_p.T627T|ZNF133_uc010gcs.1_Silent_p.T627T|ZNF133_uc002wqm.1_Silent_p.T628T	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	628	C2H2-type 15; atypical.				regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.437037	169.818095	170.281256	59	76	GG		KEEP	---	---	---	---	capture			Silent	SNP	18245379	18245379	18314	20	G	A	A	40	40	ZNF133	A	1	1
SLC24A3	57419	broad.mit.edu	36	20	19622040	19622040	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:19622040G>A	uc002wrl.1	+	c.1462G>A	c.(1462-1464)GCA>ACA	p.A488T		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	488	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1														0.380952	112.26428	113.5728	40	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19622040	19622040	14964	20	G	A	A	38	38	SLC24A3	A	1	1
PLK1S1	55857	broad.mit.edu	36	20	21090690	21090690	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:21090690G>A	uc002wsb.1	+	c.584G>A	c.(583-585)CGA>CAA	p.R195Q	PLK1S1_uc010gcy.1_Non-coding_Transcript|PLK1S1_uc002wsd.1_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	non-protein coding RNA 153	195					spindle organization	centrosome	protein kinase binding				0														0.459016	84.792887	84.88216	28	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21090690	21090690	12521	20	G	A	A	37	37	PLK1S1	A	1	1
VPS16	64601	broad.mit.edu	36	20	2790490	2790490	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2790490C>T	uc002whe.1	+	c.939C>T	c.(937-939)CTC>CTT	p.L313L	PTPRA_uc002whj.1_5'Flank|VPS16_uc002whf.1_Intron|VPS16_uc002whd.1_Non-coding_Transcript|VPS16_uc002whg.1_5'Flank|VPS16_uc002whh.1_5'Flank|VPS16_uc002whi.1_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	313					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)	3														0.173913	8.486591	10.794214	4	19	CC		KEEP	---	---	---	---	capture			Silent	SNP	2790490	2790490	17760	20	C	T	T	31	31	VPS16	T	1	1
ASXL1	171023	broad.mit.edu	36	20	30486007	30486007	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:30486007G>A	uc002wxs.1	+	c.1831G>A	c.(1831-1833)GCC>ACC	p.A611T	ASXL1_uc010gea.1_Missense_Mutation_p.A611T|ASXL1_uc010geb.1_Missense_Mutation_p.A502T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1	611					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(131)|large_intestine(6)|central_nervous_system(2)|ovary(1)	140														0.373333	73.876363	74.934569	28	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30486007	30486007	1085	20	G	A	A	38	38	ASXL1	A	1	1
C20orf152	140894	broad.mit.edu	36	20	34059802	34059802	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34059802G>A	uc002xer.1	+	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P	C20orf152_uc002xes.1_Silent_p.P380P|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	hypothetical protein LOC140894	380											0	Breast(12;0.00631)													0.348485	64.602519	65.940863	23	43	GG		KEEP	---	---	---	---	capture			Silent	SNP	34059802	34059802	2169	20	G	A	A	37	37	C20orf152	A	1	1
BPI	671	broad.mit.edu	36	20	36366133	36366133	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36366133G>A	uc002xib.2	+	c.106G>A	c.(106-108)GTC>ATC	p.V36I		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	36					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)												0.40708	129.330213	130.181877	46	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36366133	36366133	1518	20	G	A	A	40	40	BPI	A	1	1
PABPC1L	80336	broad.mit.edu	36	20	42974769	42974769	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42974769G>A	uc010ggv.1	+	c.248G>A	c.(247-249)CGC>CAC	p.R83H		NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	83	RRM 1.						nucleotide binding|RNA binding			ovary(1)	1														0.333333	68.398379	70.158554	24	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42974769	42974769	11777	20	G	A	A	38	38	PABPC1L	A	1	1
SLPI	6590	broad.mit.edu	36	20	43315072	43315072	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43315072C>T	uc002xnm.1	-	c.379G>A	c.(379-381)GTT>ATT	p.V127I		NM_003064	NP_003055	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	127	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GBM(64;162 1089 31780 33427 34538)								0.34	139.461502	142.86426	51	99	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43315072	43315072	15251	20	C	T	T	19	19	SLPI	T	1	1
DNTTIP1	116092	broad.mit.edu	36	20	43863455	43863455	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43863455G>A	uc002xpk.1	+	c.449G>A	c.(448-450)CGT>CAT	p.R150H		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	150						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)												0.357143	172.240365	175.265424	60	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43863455	43863455	4864	20	G	A	A	40	40	DNTTIP1	A	1	1
PCIF1	63935	broad.mit.edu	36	20	44009409	44009409	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:44009409G>A	uc002xqs.1	+	c.1808G>A	c.(1807-1809)CGC>CAC	p.R603H	PCIF1_uc002xqt.2_Missense_Mutation_p.R183H|PCIF1_uc002xqu.1_Missense_Mutation_p.R72H	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	603						nucleus					0														0.333333	56.062333	57.608018	21	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44009409	44009409	12000	20	G	A	A	38	38	PCIF1	A	1	1
KCNB1	3745	broad.mit.edu	36	20	47532155	47532155	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47532155G>A	uc002xur.1	-	c.270C>T	c.(268-270)GGC>GGT	p.G90G	KCNB1_uc002xus.1_Silent_p.G90G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	90	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1														0.310345	44.836201	46.636754	18	40	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Silent	SNP	47532155	47532155	8317	20	G	A	A	38	38	KCNB1	A	1	1
SLC23A2	9962	broad.mit.edu	36	20	4802641	4802641	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:4802641C>T	uc002wlg.1	-	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	SLC23A2_uc002wlh.1_Missense_Mutation_p.R348H|SLC23A2_uc002wli.2_Missense_Mutation_p.R347H	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	348					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2														0.440367	138.880474	139.21894	48	61	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4802641	4802641	14960	20	C	T	T	27	27	SLC23A2	T	1	1
C20orf43	51507	broad.mit.edu	36	20	54485536	54485536	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54485536G>A	uc002xxt.2	+	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	C20orf43_uc002xxu.2_Missense_Mutation_p.R116Q|C20orf43_uc002xxv.2_Missense_Mutation_p.R116Q	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	116										ovary(1)	1														0.444444	62.394679	62.515587	20	25	GG		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Missense_Mutation	SNP	54485536	54485536	2192	20	G	A	A	39	39	C20orf43	A	1	1
ZNF831	128611	broad.mit.edu	36	20	57200683	57200683	+	Missense_Mutation	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57200683A>G	uc002yan.1	+	c.1214A>G	c.(1213-1215)GAG>GGG	p.E405G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	405	Potential.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.571429	7.285976	7.300881	4	3	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57200683	57200683	18784	20	A	G	G	11	11	ZNF831	G	4	4
CDH4	1002	broad.mit.edu	36	20	59861287	59861287	+	Missense_Mutation	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:59861287A>G	uc002ybn.1	+	c.815A>G	c.(814-816)GAC>GGC	p.D272G	CDH4_uc002ybp.1_Missense_Mutation_p.D198G	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	272	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5														0.383838	234.717268	237.070535	76	122	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		Missense_Mutation	SNP	59861287	59861287	3241	20	A	G	G	10	10	CDH4	G	4	4
LAMA5	3911	broad.mit.edu	36	20	60336016	60336016	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60336016C>T	uc002ycq.1	-	c.4902G>A	c.(4900-4902)ACG>ACA	p.T1634T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5	1634	Laminin EGF-like 16; first part.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.423913	112.820368	113.281968	39	53	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Silent	SNP	60336016	60336016	8932	20	C	T	T	23	23	LAMA5	T	1	1
SLCO4A1	28231	broad.mit.edu	36	20	60762931	60762931	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60762931G>A	uc002ydb.1	+	c.1080G>A	c.(1078-1080)GCG>GCA	p.A360A	SLCO4A1_uc002ydc.1_Non-coding_Transcript	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	360	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)					Pancreas(168;741 2006 10379 40139 45334)				402				0.382716	82.09013	83.071587	31	50	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Silent	SNP	60762931	60762931	15226	20	G	A	A	37	37	SLCO4A1	A	1	1
NTSR1	4923	broad.mit.edu	36	20	60811664	60811664	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60811664C>T	uc002ydf.1	+	c.660C>T	c.(658-660)GGC>GGT	p.G220G		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	220	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)					GBM(37;400 780 6403 19663 35669)				297				0.27027	23.449064	25.2016	10	27	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		Silent	SNP	60811664	60811664	11115	20	C	T	T	27	27	NTSR1	T	1	1
NTSR1	4923	broad.mit.edu	36	20	60861903	60861903	+	Missense_Mutation	SNP	C	A	A			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60861903C>A	uc002ydf.1	+	c.1096C>A	c.(1096-1098)CTC>ATC	p.L366I		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	366	Helical; Name=7; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)					GBM(37;400 780 6403 19663 35669)				297				0.372881	186.442268	188.939579	66	111	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		Missense_Mutation	SNP	60861903	60861903	11115	20	C	A	A	24	24	NTSR1	A	3	3
COL9A3	1299	broad.mit.edu	36	20	60929773	60929773	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:60929773G>A	uc002ydm.1	+	c.900G>A	c.(898-900)CCG>CCA	p.P300P		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen	300	Triple-helical region 3 (COL3).				axon guidance	collagen type IX	extracellular matrix structural constituent conferring tensile strength				0	Breast(26;5.68e-08)													0.294872	64.50801	67.436618	23	55	GG		KEEP	---	---	---	---	capture			Silent	SNP	60929773	60929773	3847	20	G	A	A	39	39	COL9A3	A	1	1
DIDO1	11083	broad.mit.edu	36	20	61013191	61013191	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61013191G>A	uc002ydr.1	-	c.219C>T	c.(217-219)CGC>CGT	p.R73R	DIDO1_uc002yds.1_Silent_p.R73R|DIDO1_uc002ydt.1_Silent_p.R73R|DIDO1_uc002ydu.1_Silent_p.R73R|DIDO1_uc002ydv.1_Silent_p.R73R|DIDO1_uc002ydw.1_Silent_p.R73R|DIDO1_uc002ydx.1_Silent_p.R73R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	73					apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.411765	40.844697	41.075573	14	20	GG		KEEP	---	---	---	---	capture			Silent	SNP	61013191	61013191	4701	20	G	A	A	38	38	DIDO1	A	1	1
CHRNA4	1137	broad.mit.edu	36	20	61451764	61451764	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61451764G>A	uc002yes.2	-	c.1443C>T	c.(1441-1443)GGC>GGT	p.G481G	CHRNA4_uc002yet.1_Silent_p.G305G|CHRNA4_uc010gke.1_Silent_p.G410G|CHRNA4_uc002yev.1_Silent_p.G305G|CHRNA4_uc010gkf.1_Silent_p.G305G	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	481	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)	1	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)									0.571429	11.299766	11.330771	4	3	GG		KEEP	---	---	---	---	capture			Silent	SNP	61451764	61451764	3519	20	G	A	A	38	38	CHRNA4	A	1	1
EEF1A2	1917	broad.mit.edu	36	20	61590861	61590861	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61590861G>A	uc002yfd.1	-	c.1118C>T	c.(1117-1119)GCG>GTG	p.A373V	EEF1A2_uc002yfe.1_Missense_Mutation_p.A373V|EEF1A2_uc010gkg.1_Intron	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	373						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)													0.322581	77.024362	79.62023	30	63	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		Missense_Mutation	SNP	61590861	61590861	5111	20	G	A	A	38	38	EEF1A2	A	1	1
SRMS	6725	broad.mit.edu	36	20	61644028	61644028	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61644028G>A	uc002yfi.1	-	c.878C>T	c.(877-879)TCG>TTG	p.S293L		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	293	Protein kinase.				protein phosphorylation		ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(1)	1	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)									557				0.482759	80.209469	80.223524	28	30	GG		KEEP	---	---	---	---	capture	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		Missense_Mutation	SNP	61644028	61644028	15666	20	G	A	A	37	37	SRMS	A	1	1
PRPF6	24148	broad.mit.edu	36	20	62101437	62101437	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:62101437C>T	uc002yho.1	+	c.904C>T	c.(904-906)CGG>TGG	p.R302W	PRPF6_uc002yhp.1_Missense_Mutation_p.R302W	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	302					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)													0.34507	137.113467	140.085525	49	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62101437	62101437	13017	20	C	T	T	31	31	PRPF6	T	1	1
MYT1	4661	broad.mit.edu	36	20	62306866	62306866	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:62306866G>A	uc002yii.1	+	c.121G>A	c.(121-123)GTC>ATC	p.V41I	MYT1_uc002yih.2_Missense_Mutation_p.V41I|MYT1_uc002yij.1_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	41	C2HC-type 1.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GBM(59;481 1041 20555 21139 33705)				1819				0.302752	87.328419	91.117326	33	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62306866	62306866	10501	20	G	A	A	40	40	MYT1	A	1	1
PCMTD2	55251	broad.mit.edu	36	20	62369699	62369699	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:62369699C>T	uc002yil.2	+	c.598C>T	c.(598-600)CGC>TGC	p.R200C	PCMTD2_uc002yim.2_Intron	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	200						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)													0.398437	147.18981	148.347096	51	77	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62369699	62369699	12007	20	C	T	T	19	19	PCMTD2	T	1	1
KRTAP27-1	643812	broad.mit.edu	36	21	30631292	30631292	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:30631292G>A	uc002ynx.1	-	c.566C>T	c.(565-567)TCT>TTT	p.S189F		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	189						intermediate filament				ovary(2)	2														0.487805	194.694734	194.710716	60	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30631292	30631292	8866	21	G	A	A	33	33	KRTAP27-1	A	2	2
MORC3	23515	broad.mit.edu	36	21	36631996	36631996	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:36631996C>T	uc002yvi.1	+	c.342C>T	c.(340-342)GAC>GAT	p.D114D	MORC3_uc010gmz.1_5'Flank	NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	114					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2														0.425	196.472147	197.257185	68	92	CC		KEEP	---	---	---	---	capture			Silent	SNP	36631996	36631996	10094	21	C	T	T	19	19	MORC3	T	1	1
CLDN14	23562	broad.mit.edu	36	21	36755501	36755501	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:36755501G>A	uc002yvk.1	-	c.363C>T	c.(361-363)GGC>GGT	p.G121G	CLDN14_uc002yvn.1_Silent_p.G121G|CLDN14_uc002yvo.1_Silent_p.G121G|CLDN14_uc002yvl.1_Silent_p.G121G|CLDN14_uc002yvm.1_Silent_p.G121G|CLDN14_uc010gna.1_Silent_p.G121G	NM_012130	NP_652763	O95500	CLD14_HUMAN	claudin 14	121	Helical; (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.348214	103.38883	105.667015	39	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	36755501	36755501	3611	21	G	A	A	38	38	CLDN14	A	1	1
UBASH3A	53347	broad.mit.edu	36	21	42711736	42711736	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42711736C>T	uc002zbe.1	+	c.995C>T	c.(994-996)CCG>CTG	p.P332L	UBASH3A_uc002zbf.1_Missense_Mutation_p.P294L|UBASH3A_uc010gpc.1_Non-coding_Transcript|UBASH3A_uc010gpd.1_Non-coding_Transcript|UBASH3A_uc010gpe.1_Missense_Mutation_p.P294L	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	332	SH3.					cytosol|nucleus				ovary(3)	3														0.309524	31.461191	32.818402	13	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42711736	42711736	17396	21	C	T	T	23	23	UBASH3A	T	1	1
ADARB1	104	broad.mit.edu	36	21	45424726	45424726	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45424726C>T	uc002zgq.1	+	c.1017C>T	c.(1015-1017)ACC>ACT	p.T339T	ADARB1_uc010gpx.1_Non-coding_Transcript|ADARB1_uc002zgr.1_Silent_p.T339T|ADARB1_uc002zgs.1_Silent_p.T367T|ADARB1_uc002zgt.1_Silent_p.T339T|ADARB1_uc002zgv.1_Non-coding_Transcript|ADARB1_uc002zgw.1_Silent_p.T339T|ADARB1_uc002zgu.1_Non-coding_Transcript|ADARB1_uc002zgy.1_Silent_p.T339T	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	339					adenosine to inosine editing|base conversion or substitution editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding				0														0.333333	51.259396	52.513329	17	34	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.115)	Silent	SNP	45424726	45424726	283	21	C	T	T	23	23	ADARB1	T	1	1
SLC19A1	6573	broad.mit.edu	36	21	45770167	45770167	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45770167G>A	uc002zhl.1	-	c.1285C>T	c.(1285-1287)CGC>TGC	p.R429C	SLC19A1_uc010gpy.1_Missense_Mutation_p.R429C|SLC19A1_uc010gpz.1_Missense_Mutation_p.R308C|SLC19A1_uc002zhm.1_Missense_Mutation_p.R429C	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	429	Extracellular (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0														0.477477	164.144363	164.186905	53	58	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Missense_Mutation	SNP	45770167	45770167	14924	21	G	A	A	39	39	SLC19A1	A	1	1
COL6A1	1291	broad.mit.edu	36	21	46246893	46246893	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46246893G>A	uc002zhu.1	+	c.2275G>A	c.(2275-2277)GTG>ATG	p.V759M	COL6A1_uc010gqd.1_Missense_Mutation_p.V90M|COL6A1_uc002zhv.1_Missense_Mutation_p.V90M|COL6A1_uc002zhw.1_De_novo_Start_InFrame	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	759	VWFA 2.|C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)				Palifermin(DB00039)									0.357895	93.516315	95.208617	34	61	GG		KEEP	---	---	---	---	capture		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Missense_Mutation	SNP	46246893	46246893	3837	21	G	A	A	40	40	COL6A1	A	1	1
COL6A1	1291	broad.mit.edu	36	21	46248067	46248067	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46248067C>T	uc002zhu.1	+	c.2799C>T	c.(2797-2799)GGC>GGT	p.G933G	COL6A1_uc010gqd.1_Silent_p.G264G|COL6A1_uc002zhv.1_Silent_p.G264G|COL6A1_uc002zhw.1_Silent_p.G27G	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	933	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)				Palifermin(DB00039)									0.413043	53.118316	53.421398	19	27	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Silent	SNP	46248067	46248067	3837	21	C	T	T	27	27	COL6A1	T	1	1
PCNT	5116	broad.mit.edu	36	21	46672834	46672834	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46672834C>T	uc002zji.2	+	c.7592C>T	c.(7591-7593)ACG>ATG	p.T2531M	PCNT_uc002zjj.1_Missense_Mutation_p.T2413M	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2531					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)													0.416667	28.950151	29.094348	10	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46672834	46672834	12010	21	C	T	T	19	19	PCNT	T	1	1
DIP2A	23181	broad.mit.edu	36	21	46802591	46802591	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46802591C>T	uc002zjo.1	+	c.3826C>T	c.(3826-3828)CGC>TGC	p.R1276C	DIP2A_uc002zjr.2_Missense_Mutation_p.R243C	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	DIP2-like protein isoform a	1276					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)													0.16129	9.359526	12.739713	5	26	CC		KEEP	---	---	---	---	capture		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	Missense_Mutation	SNP	46802591	46802591	4706	21	C	T	T	27	27	DIP2A	T	1	1
CCT8L2	150160	broad.mit.edu	36	22	15452893	15452893	+	Missense_Mutation	SNP	A	C	C			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15452893A>C	uc002zlp.1	-	c.548T>G	c.(547-549)CTG>CGG	p.L183R		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	183					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.409091	135.161714	135.953255	45	65	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15452893	15452893	3088	22	A	C	C	7	7	CCT8L2	C	4	4
CECR5	27440	broad.mit.edu	36	22	16005970	16005970	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16005970G>A	uc002zmf.1	-	c.481C>T	c.(481-483)CGG>TGG	p.R161W	CECR5_uc002zme.1_5'UTR|CECR5_uc002zmg.1_Intron|CECR5_uc002zmh.1_Missense_Mutation_p.R131W	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	161							hydrolase activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.444444	83.689891	83.859571	28	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16005970	16005970	3340	22	G	A	A	38	38	CECR5	A	1	1
CECR2	27443	broad.mit.edu	36	22	16402357	16402357	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16402357C>T	uc010gqw.1	+	c.2459C>T	c.(2458-2460)CCG>CTG	p.P820L	CECR2_uc010gqv.1_Missense_Mutation_p.P679L|CECR2_uc002zml.2_Missense_Mutation_p.P679L	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	862					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)												0.333333	80.842482	82.984502	29	58	CC		KEEP	---	---	---	---	capture		Lung(27;0.146)	Missense_Mutation	SNP	16402357	16402357	3339	22	C	T	T	23	23	CECR2	T	1	1
USP18	11274	broad.mit.edu	36	22	17035995	17035995	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17035995C>T	uc002zny.1	+	c.970C>T	c.(970-972)CGG>TGG	p.R324W		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	ubiquitin specific protease 18	324					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0														0.458333	70.847165	70.919464	22	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17035995	17035995	17612	22	C	T	T	23	23	USP18	T	1	1
CLTCL1	8218	broad.mit.edu	36	22	17590252	17590252	+	Silent	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17590252T>C	uc002zpb.1	-	c.2373A>G	c.(2371-2373)TTA>TTG	p.L791L	CLTCL1_uc002zpc.1_Non-coding_Transcript	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1	791	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)									1206				0.333333	7.148482	7.295845	2	4	TT		KEEP	---	---	---	---	capture			Silent	SNP	17590252	17590252	3705	22	T	C	C	49	49	CLTCL1	C	4	4
HIRA	7290	broad.mit.edu	36	22	17720920	17720920	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17720920C>T	uc002zpf.1	-	c.2807G>A	c.(2806-2808)CGC>CAC	p.R936H	HIRA_uc010grn.1_Missense_Mutation_p.R729H|HIRA_uc010gro.1_Missense_Mutation_p.R892H	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	936	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(1)	1	Colorectal(54;0.0993)													0.317073	34.459131	35.679701	13	28	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17720920	17720920	7405	22	C	T	T	27	27	HIRA	T	1	1
UFD1L	7353	broad.mit.edu	36	22	17839257	17839257	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17839257C>T	uc002zpm.1	-	c.244G>A	c.(244-246)GTG>ATG	p.V82M	UFD1L_uc002zpn.1_Missense_Mutation_p.V71M|UFD1L_uc002zpo.1_Missense_Mutation_p.V82M|UFD1L_uc002zpp.1_Missense_Mutation_p.V35M|UFD1L_uc010grq.1_Missense_Mutation_p.V35M	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	82					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)													0.279412	47.095536	50.071727	19	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17839257	17839257	17493	22	C	T	T	19	19	UFD1L	T	1	1
LZTR1	8216	broad.mit.edu	36	22	19678289	19678289	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:19678289C>T	uc002zto.1	+	c.1430C>T	c.(1429-1431)GCG>GTG	p.A477V	LZTR1_uc002ztn.1_Missense_Mutation_p.A436V|LZTR1_uc010gsr.1_Missense_Mutation_p.A348V|LZTR1_uc002ztp.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	477	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)								1299				0.4375	21.123681	21.177945	7	9	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		Missense_Mutation	SNP	19678289	19678289	9514	22	C	T	T	27	27	LZTR1	T	1	1
HIC2	23119	broad.mit.edu	36	22	20130908	20130908	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20130908G>A	uc002zur.2	+	c.1724G>A	c.(1723-1725)CGC>CAC	p.R575H	HIC2_uc002zus.2_Missense_Mutation_p.R575H	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	575	C2H2-type 4.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding				0	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				NSCLC(23;437 858 2282 27947 40366)								0.340659	84.308007	86.344839	31	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20130908	20130908	7387	22	G	A	A	38	38	HIC2	A	1	1
CCDC116	164592	broad.mit.edu	36	22	20319451	20319451	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20319451C>T	uc002zve.1	+	c.1099C>T	c.(1099-1101)CGC>TGC	p.R367C		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	367										ovary(1)	1	Colorectal(54;0.105)													0.263158	36.946417	39.8088	15	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20319451	20319451	2873	22	C	T	T	23	23	CCDC116	T	1	1
PPM1F	9647	broad.mit.edu	36	22	20617910	20617910	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20617910G>A	uc002zvp.1	-	c.600C>T	c.(598-600)CAC>CAT	p.H200H	PPM1F_uc002zvq.2_Silent_p.H200H	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	200					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)													0.318182	54.347219	56.28907	21	45	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.155)	Silent	SNP	20617910	20617910	12774	22	G	A	A	40	40	PPM1F	A	1	1
VPREB3	29802	broad.mit.edu	36	22	22425296	22425296	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22425296C>T	uc002zxt.1	-	c.139G>A	c.(139-141)GTC>ATC	p.V47I	ZNF70_uc002zxs.1_5'Flank	NM_013378	NP_037510	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	47	Ig-like.					endoplasmic reticulum					0		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)												0.418605	53.843904	54.092176	18	25	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22425296	22425296	17754	22	C	T	T	19	19	VPREB3	T	1	1
CABIN1	23523	broad.mit.edu	36	22	22845597	22845597	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22845597C>T	uc002zzi.1	+	c.4564C>T	c.(4564-4566)CGC>TGC	p.R1522C	CABIN1_uc002zzj.1_Missense_Mutation_p.R1443C|CABIN1_uc002zzl.1_Missense_Mutation_p.R1522C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1522					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.390863	235.943547	237.994321	77	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22845597	22845597	2644	22	C	T	T	23	23	CABIN1	T	1	1
SEZ6L	23544	broad.mit.edu	36	22	25018610	25018610	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:25018610C>T	uc003acb.1	+	c.333C>T	c.(331-333)CAC>CAT	p.H111H	SEZ6L_uc003acc.1_Silent_p.H111H|SEZ6L_uc003acd.1_Silent_p.H111H|SEZ6L_uc003ace.1_Silent_p.H111H|SEZ6L_uc003acf.1_De_novo_Start_OutOfFrame|SEZ6L_uc010gvc.1_De_novo_Start_OutOfFrame	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	111	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.451613	42.048035	42.110938	14	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	25018610	25018610	14632	22	C	T	T	19	19	SEZ6L	T	1	1
PITPNB	23760	broad.mit.edu	36	22	26636975	26636975	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:26636975C>T	uc003adl.1	-	c.174G>A	c.(172-174)ACG>ACA	p.T58T	PITPNB_uc003adk.1_Silent_p.T58T	NM_012399	NP_036531	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	58					lipid metabolic process|transport	Golgi apparatus	lipid binding			skin(1)	1														0.289655	111.489288	117.240402	42	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	26636975	26636975	12372	22	C	T	T	27	27	PITPNB	T	1	1
ZNRF3	84133	broad.mit.edu	36	22	27775795	27775795	+	Nonsense_Mutation	SNP	C	A	A			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:27775795C>A	uc003aeg.2	+	c.1326C>A	c.(1324-1326)TAC>TAA	p.Y442*	ZNRF3_uc003aeh.1_Nonsense_Mutation_p.Y442*	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	542	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1														0.222222	8.292344	9.569166	4	14	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	27775795	27775795	18817	22	C	A	A	18	18	ZNRF3	A	5	3
GAS2L1	10634	broad.mit.edu	36	22	28038144	28038144	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:28038144G>A	uc003afa.1	+	c.1704G>A	c.(1702-1704)TCG>TCA	p.S568S	GAS2L1_uc010gvm.1_Silent_p.S341S|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.S568S|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	568					cell cycle arrest	cytoplasm|cytoskeleton					0														0.405063	267.758084	269.622782	96	141	GG		KEEP	---	---	---	---	capture			Silent	SNP	28038144	28038144	6510	22	G	A	A	40	40	GAS2L1	A	1	1
SEC14L2	23541	broad.mit.edu	36	22	29133096	29133096	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29133096C>T	uc003ahr.1	+	c.187C>T	c.(187-189)CGA>TGA	p.R63*	SEC14L2_uc003ahq.2_Nonsense_Mutation_p.R63*|SEC14L2_uc003ahs.1_Intron|SEC14L2_uc003aht.1_5'Flank|SEC14L2_uc010gvv.1_5'Flank|SEC14L2_uc003ahu.2_5'Flank|SEC14L2_uc010gvw.1_5'Flank|MTFP1_uc010gvx.1_5'Flank|MTFP1_uc003ahv.1_5'Flank|MTFP1_uc010gvy.1_5'Flank	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	63					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transcription activator activity|transporter activity|vitamin E binding				0					Vitamin E(DB00163)									0.275	61.106218	64.760796	22	58	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	29133096	29133096	14468	22	C	T	T	23	23	SEC14L2	T	5	1
SMTN	6525	broad.mit.edu	36	22	29825066	29825066	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29825066C>T	uc003ajm.1	+	c.2352C>T	c.(2350-2352)CGC>CGT	p.R784R	SMTN_uc003ajk.1_Silent_p.R784R|SMTN_uc003ajl.1_Silent_p.R784R|SMTN_uc003ajn.1_Silent_p.R807R|SMTN_uc003ajo.1_Silent_p.R307R|SMTN_uc010gwe.1_Silent_p.R164R|SMTN_uc003ajp.1_5'Flank	NM_134270	NP_599032	P53814	SMTN_HUMAN	smoothelin isoform a	784					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3														0.294118	64.857668	68.072913	25	60	CC		KEEP	---	---	---	---	capture			Silent	SNP	29825066	29825066	15314	22	C	T	T	27	27	SMTN	T	1	1
TOM1	10043	broad.mit.edu	36	22	34049047	34049047	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:34049047C>T	uc003anp.1	+	c.243C>T	c.(241-243)TGC>TGT	p.C81C	TOM1_uc003ann.1_Silent_p.C81C|TOM1_uc003ano.1_Non-coding_Transcript|TOM1_uc003anq.1_Silent_p.C75C|TOM1_uc003anr.1_5'UTR|TOM1_uc003ans.1_5'UTR	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	81	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1														0.297297	53.600523	56.333883	22	52	CC		KEEP	---	---	---	---	capture			Silent	SNP	34049047	34049047	16892	22	C	T	T	27	27	TOM1	T	1	1
CARD10	29775	broad.mit.edu	36	22	36232244	36232244	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36232244C>T	uc003asx.1	-	c.1284G>A	c.(1282-1284)GCG>GCA	p.A428A	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Silent_p.A142A|CARD10_uc003asy.1_Silent_p.A428A	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	caspase recruitment domain protein 10	428	Potential.				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			ovary(1)|kidney(1)	2	Melanoma(58;0.0574)									672				0.4	39.736558	40.04431	14	21	CC		KEEP	---	---	---	---	capture			Silent	SNP	36232244	36232244	2763	22	C	T	T	23	23	CARD10	T	1	1
LGALS2	3957	broad.mit.edu	36	22	36305854	36305854	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36305854G>A	uc003ata.1	-	c.5C>T	c.(4-6)ACG>ATG	p.T2M		NM_006498	NP_006489	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	2										breast(1)	1	Melanoma(58;0.0574)					GBM(193;1840 2185 13711 20676 24505)								0.2	8.288326	9.962968	4	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36305854	36305854	9067	22	G	A	A	40	40	LGALS2	A	1	1
PLA2G6	8398	broad.mit.edu	36	22	36895208	36895208	+	Missense_Mutation	SNP	C	T	T	rs11570605	by-cluster,by-frequency	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36895208C>T	uc003auy.1	-	c.172G>A	c.(172-174)GTC>ATC	p.V58I	PLA2G6_uc003auz.1_Missense_Mutation_p.V58I|PLA2G6_uc003ava.1_Missense_Mutation_p.V58I|PLA2G6_uc003avb.2_Missense_Mutation_p.V58I|PLA2G6_uc010gxk.1_Non-coding_Transcript	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	58					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)									0.369565	48.962471	49.650474	17	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36895208	36895208	12434	22	C	T	T	19	19	PLA2G6	T	1	1
CACNA1I	8911	broad.mit.edu	36	22	38389717	38389717	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38389717C>T	uc003ayc.1	+	c.3522C>T	c.(3520-3522)TAC>TAT	p.Y1174Y	CACNA1I_uc003ayd.1_Silent_p.Y1139Y|CACNA1I_uc003aye.2_Silent_p.Y1089Y|CACNA1I_uc003ayf.2_Silent_p.Y1054Y	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1174	Helical; Name=S1 of repeat III; (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)									0.441026	249.024793	249.614456	86	109	CC		KEEP	---	---	---	---	capture			Silent	SNP	38389717	38389717	2662	22	C	T	T	19	19	CACNA1I	T	1	1
ENTHD1	150350	broad.mit.edu	36	22	38613693	38613693	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:38613693C>T	uc003ayg.1	-	c.6G>A	c.(4-6)GCG>GCA	p.A2A		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	2										ovary(2)	2	Melanoma(58;0.0749)													0.340426	92.774816	94.888812	32	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	38613693	38613693	5330	22	C	T	T	19	19	ENTHD1	T	1	1
TNRC6B	23112	broad.mit.edu	36	22	39047131	39047131	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39047131G>A	uc003ayn.2	+	c.4736G>A	c.(4735-4737)CGA>CAA	p.R1579Q	TNRC6B_uc003aym.1_Missense_Mutation_p.R885Q|TNRC6B_uc003ayo.2_Missense_Mutation_p.R1436Q	NM_015088	NP_055903	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1689	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0										794				0.423729	75.164286	75.463966	25	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39047131	39047131	16882	22	G	A	A	37	37	TNRC6B	A	1	1
SGSM3	27352	broad.mit.edu	36	22	39130564	39130564	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39130564C>T	uc010gyd.1	+	c.424C>T	c.(424-426)CGC>TGC	p.R142C	SGSM3_uc010gyc.1_Missense_Mutation_p.R142C|SGSM3_uc003ayu.1_Missense_Mutation_p.R142C	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	142	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2														0.590909	41.378954	41.538327	13	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39130564	39130564	14715	22	C	T	T	23	23	SGSM3	T	1	1
SGSM3	27352	broad.mit.edu	36	22	39131638	39131638	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39131638G>A	uc010gyd.1	+	c.658G>A	c.(658-660)GCC>ACC	p.A220T	SGSM3_uc010gyc.1_Missense_Mutation_p.A220T|SGSM3_uc003ayu.1_Missense_Mutation_p.A220T	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	220	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2														0.34593	308.517161	315.727898	119	225	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39131638	39131638	14715	22	G	A	A	38	38	SGSM3	A	1	1
MKL1	57591	broad.mit.edu	36	22	39137699	39137699	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:39137699G>A	uc003ayv.1	-	c.2437C>T	c.(2437-2439)CGC>TGC	p.R813C	MKL1_uc003ayw.1_Missense_Mutation_p.R813C|MKL1_uc010gye.1_3'UTR|MKL1_uc010gyf.1_Missense_Mutation_p.R763C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|nucleic acid binding|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3										210				0.496454	207.226529	207.228025	70	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39137699	39137699	9991	22	G	A	A	40	40	MKL1	A	1	1
ACO2	50	broad.mit.edu	36	22	40225692	40225692	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40225692G>A	uc003bad.1	+	c.53G>A	c.(52-54)CGG>CAG	p.R18Q	ACO2_uc003bac.1_Missense_Mutation_p.R18Q	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2 precursor	18					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4														0.372596	459.435062	465.358705	155	261	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40225692	40225692	148	22	G	A	A	39	39	ACO2	A	1	1
ATXN10	25814	broad.mit.edu	36	22	44617565	44617565	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:44617565G>A	uc003bgm.1	+	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	ATXN10_uc003bgn.1_Missense_Mutation_p.R234Q	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	423					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)												0.454545	151.730575	151.928927	50	60	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	Missense_Mutation	SNP	44617565	44617565	1229	22	G	A	A	37	37	ATXN10	A	1	1
GTSE1	51512	broad.mit.edu	36	22	45083497	45083497	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45083497C>T	uc003bhk.1	+	c.698C>T	c.(697-699)GCG>GTG	p.A233V		NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	233					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)				GBM(153;542 1915 12487 29016 50495)			p.A233V(EFM19-Tumor)|p.A233V(NCIH2196-Tumor)	471				0.421053	115.983909	116.499942	40	55	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	Missense_Mutation	SNP	45083497	45083497	7165	22	C	T	T	27	27	GTSE1	T	1	1
CELSR1	9620	broad.mit.edu	36	22	45161064	45161064	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45161064G>A	uc003bhw.1	-	c.6638C>T	c.(6637-6639)ACG>ATG	p.T2213M		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2213	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.5	16.543859	16.543859	6	6	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Missense_Mutation	SNP	45161064	45161064	3354	22	G	A	A	40	40	CELSR1	A	1	1
CELSR1	9620	broad.mit.edu	36	22	45308365	45308365	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:45308365C>T	uc003bhw.1	-	c.3367G>A	c.(3367-3369)GTG>ATG	p.V1123M		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1123	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)												0.353261	174.210856	177.708049	65	119	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	Missense_Mutation	SNP	45308365	45308365	3354	22	C	T	T	19	19	CELSR1	T	1	1
TTLL8	164714	broad.mit.edu	36	22	48814958	48814958	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:48814958G>A	uc003bjf.1	-	c.982C>T	c.(982-984)CGG>TGG	p.R328W		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)												0.302326	37.358779	38.858694	13	30	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	Missense_Mutation	SNP	48814958	48814958	17288	22	G	A	A	39	39	TTLL8	A	1	1
TUBGCP6	85378	broad.mit.edu	36	22	49006397	49006397	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49006397G>A	uc003bkb.1	-	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C	TUBGCP6_uc010har.1_Missense_Mutation_p.R646C|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	646					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)												0.444444	64.880082	65.026721	24	30	GG		KEEP	---	---	---	---	capture		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	Missense_Mutation	SNP	49006397	49006397	17325	22	G	A	A	38	38	TUBGCP6	A	1	1
SBF1	6305	broad.mit.edu	36	22	49240575	49240575	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49240575C>T	uc003blh.1	-	c.4498G>A	c.(4498-4500)GGG>AGG	p.G1500R	SBF1_uc003ble.1_5'UTR|SBF1_uc003blf.1_5'UTR|SBF1_uc003blg.1_Missense_Mutation_p.G1474R	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1 isoform a	1474	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)												0.307692	46.080504	47.794772	16	36	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Missense_Mutation	SNP	49240575	49240575	14339	22	C	T	T	23	23	SBF1	T	1	1
NPAS2	4862	broad.mit.edu	36	2	100947772	100947772	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:100947772C>T	uc002tap.1	+	c.735C>T	c.(733-735)GAC>GAT	p.D245D		NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	245	PAS 2.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			ovary(3)	3														0.300752	105.349685	110.065533	40	93	CC		KEEP	---	---	---	---	capture			Silent	SNP	100947772	100947772	10967	2	C	T	T	19	19	NPAS2	T	1	1
SLC5A7	60482	broad.mit.edu	36	2	107975940	107975940	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:107975940C>T	uc002tdv.1	+	c.373C>T	c.(373-375)CGC>TGC	p.R125C	SLC5A7_uc010fjj.1_Missense_Mutation_p.R125C|SLC5A7_uc010fjk.1_Non-coding_Transcript	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	125	Extracellular (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.358382	178.610208	181.661999	62	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107975940	107975940	15167	2	C	T	T	19	19	SLC5A7	T	1	1
SULT1C2	6819	broad.mit.edu	36	2	108288339	108288339	+	Missense_Mutation	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108288339A>G	uc002tdx.1	+	c.667A>G	c.(667-669)ATG>GTG	p.M223V	SULT1C2_uc002tdy.1_Missense_Mutation_p.M212V	NM_176825	NP_789795	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	212	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1														0.473684	55.046699	55.069617	18	20	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108288339	108288339	15897	2	A	G	G	8	8	SULT1C2	G	4	4
MERTK	10461	broad.mit.edu	36	2	112502502	112502502	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112502502G>A	uc002thk.1	+	c.2590G>A	c.(2590-2592)GTT>ATT	p.V864I	MERTK_uc002thl.1_Missense_Mutation_p.V688I	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	864	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration|protein phosphorylation|visual perception	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|kidney(1)	6									p.V864F(FADU-Tumor)	602				0.390411	163.244774	164.779444	57	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112502502	112502502	9868	2	G	A	A	40	40	MERTK	A	1	1
TTL	150465	broad.mit.edu	36	2	113002760	113002760	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113002760G>A	uc002thu.1	+	c.1051G>A	c.(1051-1053)GTG>ATG	p.V351M	TTL_uc010fkm.1_Intron|TTL_uc002thv.1_Non-coding_Transcript	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	351	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)							p.V351M(MFE296-Tumor)|p.V351M(PF382-Tumor)|p.V351M(HS616.T-Tumor)	130				0.410959	179.477792	180.487285	60	86	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	Missense_Mutation	SNP	113002760	113002760	17276	2	G	A	A	40	40	TTL	A	1	1
CYP27C1	339761	broad.mit.edu	36	2	127673430	127673430	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127673430C>T	uc002tod.2	-	c.544G>A	c.(544-546)GTC>ATC	p.V182I		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	182					oxidation-reduction process	membrane	electron carrier activity|heme binding|monooxygenase activity				0	Colorectal(110;0.1)													0.267176	84.867491	91.280815	35	96	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.071)	Missense_Mutation	SNP	127673430	127673430	4325	2	C	T	T	19	19	CYP27C1	T	1	1
UGGT1	56886	broad.mit.edu	36	2	128648875	128648875	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128648875G>A	uc002tps.1	+	c.3512G>A	c.(3511-3513)CGC>CAC	p.R1171H	UGGT1_uc002tpr.1_Missense_Mutation_p.R1147H	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1171					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.299435	132.218282	138.575551	53	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128648875	128648875	17499	2	G	A	A	38	38	UGGT1	A	1	1
HS6ST1	9394	broad.mit.edu	36	2	128742436	128742436	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:128742436G>A	uc002tpt.2	-	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	336	Lumenal (Potential).				carbohydrate biosynthetic process|heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)													0.397436	82.804806	83.523139	31	47	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.117)	Missense_Mutation	SNP	128742436	128742436	7664	2	G	A	A	38	38	HS6ST1	A	1	1
POTEF	728378	broad.mit.edu	36	2	130594322	130594322	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:130594322G>A	uc010fmh.1	-	c.237C>T	c.(235-237)AAC>AAT	p.N79N	POTEF_uc010fmi.1_Non-coding_Transcript|POTEF_uc010fmj.1_Non-coding_Transcript	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	79						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.334405	274.89126	282.445085	104	207	GG		KEEP	---	---	---	---	capture			Silent	SNP	130594322	130594322	12695	2	G	A	A	40	40	POTEF	A	1	1
SMPD4	55627	broad.mit.edu	36	2	130646924	130646924	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:130646924C>T	uc002tqq.1	-	c.477G>A	c.(475-477)GCG>GCA	p.A159A	SMPD4_uc002tqp.1_5'UTR|SMPD4_uc002tqr.1_Silent_p.A159A|SMPD4_uc002tqs.1_Silent_p.A27A|SMPD4_uc002tqt.1_Silent_p.A37A	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	neutral sphingomyelinase 3 isoform 2	120					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)									0.392857	32.421174	32.701792	11	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	130646924	130646924	15307	2	C	T	T	19	19	SMPD4	T	1	1
ARHGEF4	50649	broad.mit.edu	36	2	131405190	131405190	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:131405190G>A	uc002tsa.1	+	c.190G>A	c.(190-192)GTC>ATC	p.V64I	ARHGEF4_uc010fmw.1_Missense_Mutation_p.V710I|ARHGEF4_uc002tsb.1_Missense_Mutation_p.V64I|ARHGEF4_uc010fmx.1_Missense_Mutation_p.V64I|ARHGEF4_uc002trz.1_Missense_Mutation_p.V710I	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	64					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)												0.36	48.736246	49.598896	18	32	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.097)	Missense_Mutation	SNP	131405190	131405190	923	2	G	A	A	40	40	ARHGEF4	A	1	1
NEB	4703	broad.mit.edu	36	2	152252394	152252394	+	Missense_Mutation	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152252394T>C	uc010fnx.1	-	c.2515A>G	c.(2515-2517)ACC>GCC	p.T839A		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	839	Nebulin 19.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19														0.377778	44.543734	45.140247	17	28	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Missense_Mutation	SNP	152252394	152252394	10701	2	T	C	C	59	59	NEB	C	4	4
NEB	4703	broad.mit.edu	36	2	152290279	152290279	+	Silent	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152290279T>C	uc010fnx.1	-	c.336A>G	c.(334-336)CCA>CCG	p.P112P		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	112					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19														0.390244	289.145525	291.740973	96	150	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Silent	SNP	152290279	152290279	10701	2	T	C	C	51	51	NEB	C	4	4
STAM2	10254	broad.mit.edu	36	2	152698244	152698244	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152698244G>A	uc002tyc.2	-	c.800C>T	c.(799-801)GCG>GTG	p.A267V	STAM2_uc010foa.1_Missense_Mutation_p.A267V|STAM2_uc002tyd.2_Missense_Mutation_p.A267V	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	267					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1														0.350365	133.280857	135.977106	48	89	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.22)	Missense_Mutation	SNP	152698244	152698244	15768	2	G	A	A	38	38	STAM2	A	1	1
LY75	4065	broad.mit.edu	36	2	160414844	160414844	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:160414844G>A	uc002ubb.2	-	c.3043C>T	c.(3043-3045)CGC>TGC	p.R1015C	LY75_uc010fos.1_Missense_Mutation_p.R1015C|LY75_uc002ubc.2_Missense_Mutation_p.R1015C	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75	1015	Extracellular (Potential).|C-type lectin 6.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0														0.382114	121.728829	123.213923	47	76	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(177;0.132)	Missense_Mutation	SNP	160414844	160414844	9476	2	G	A	A	38	38	LY75	A	1	1
SCN9A	6335	broad.mit.edu	36	2	166851362	166851362	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166851362C>T	uc002udq.2	-	c.1332G>A	c.(1330-1332)GCG>GCA	p.A444A	SCN9A_uc002udr.1_Silent_p.A315A|SCN9A_uc002uds.1_Silent_p.A315A|SCN9A_uc002udt.1_Silent_p.A315A	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	444						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.421053	22.292581	22.396564	8	11	CC		KEEP	---	---	---	---	capture			Silent	SNP	166851362	166851362	14407	2	C	T	T	23	23	SCN9A	T	1	1
LRP2	4036	broad.mit.edu	36	2	169768967	169768967	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169768967G>A	uc002ues.1	-	c.7776C>T	c.(7774-7776)GCC>GCT	p.A2592A		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2592	LDL-receptor class B 28.|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					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.367232	391.968857	397.450246	130	224	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Silent	SNP	169768967	169768967	9329	2	G	A	A	39	39	LRP2	A	1	1
MYO3B	140469	broad.mit.edu	36	2	170765000	170765000	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:170765000C>T	uc002ufy.1	+	c.281C>T	c.(280-282)GCG>GTG	p.A94V	MYO3B_uc002ufv.2_Missense_Mutation_p.A94V|MYO3B_uc010fqb.1_Missense_Mutation_p.A94V|MYO3B_uc002ufz.1_Missense_Mutation_p.A94V|MYO3B_uc002ufw.1_Non-coding_Transcript|MYO3B_uc002ufx.1_Non-coding_Transcript|MYO3B_uc002uga.2_Missense_Mutation_p.A81V	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	94	Protein kinase.				protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16									p.A94V(RMGI-Tumor)	1118				0.260274	48.107671	51.895735	19	54	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170765000	170765000	10472	2	C	T	T	27	27	MYO3B	T	1	1
ITGA6	3655	broad.mit.edu	36	2	173064259	173064259	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:173064259C>T	uc002uhp.1	+	c.2843C>T	c.(2842-2844)GCG>GTG	p.A948V	ITGA6_uc002uho.1_Missense_Mutation_p.A948V|ITGA6_uc010fqm.1_Missense_Mutation_p.A579V	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	987	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of apoptosis	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2														0.352159	293.723746	299.497441	106	195	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		Missense_Mutation	SNP	173064259	173064259	8184	2	C	T	T	27	27	ITGA6	T	1	1
ITGA6	3655	broad.mit.edu	36	2	173077205	173077205	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:173077205C>T	uc002uhp.1	+	c.3255C>T	c.(3253-3255)AAC>AAT	p.N1085N	ITGA6_uc002uho.1_3'UTR|ITGA6_uc010fqm.1_3'UTR	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	1124	Cytoplasmic (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of apoptosis	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2														0.3125	13.97039	14.470473	5	11	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		Silent	SNP	173077205	173077205	8184	2	C	T	T	19	19	ITGA6	T	1	1
SP3	6670	broad.mit.edu	36	2	174486145	174486145	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:174486145C>T	uc002uig.1	-	c.1928G>A	c.(1927-1929)CGT>CAT	p.R643H	SP3_uc002uie.1_Missense_Mutation_p.R575H|SP3_uc002uif.1_Missense_Mutation_p.R590H	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	643	C2H2-type 1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|transcription activator activity|transcription repressor activity|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6														0.326531	88.579243	91.188531	32	66	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.185)		Missense_Mutation	SNP	174486145	174486145	15465	2	C	T	T	19	19	SP3	T	1	1
SLC39A10	57181	broad.mit.edu	36	2	196279641	196279641	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:196279641G>A	uc002utg.2	+	c.1273G>A	c.(1273-1275)GTG>ATG	p.V425M	SLC39A10_uc002uth.2_Missense_Mutation_p.V425M	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	425	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)	1														0.4	150.039573	151.127916	50	75	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.221)		Missense_Mutation	SNP	196279641	196279641	15110	2	G	A	A	40	40	SLC39A10	A	1	1
ALS2CR12	130540	broad.mit.edu	36	2	201919632	201919632	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:201919632G>A	uc010ftg.1	-	c.246C>T	c.(244-246)AAC>AAT	p.N82N	ALS2CR12_uc002uya.2_Silent_p.N82N|ALS2CR12_uc010fth.1_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	82					regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3														0.303797	127.534671	132.965713	48	110	GG		KEEP	---	---	---	---	capture			Silent	SNP	201919632	201919632	556	2	G	A	A	40	40	ALS2CR12	A	1	1
SDC1	6382	broad.mit.edu	36	2	20266419	20266419	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:20266419C>T	uc002rdo.1	-	c.673G>A	c.(673-675)GTG>ATG	p.V225M	SDC1_uc002rdp.1_Missense_Mutation_p.V225M|SDC1_uc010exv.1_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	225	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.442623	73.113215	73.28835	27	34	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(76;0.221)	Missense_Mutation	SNP	20266419	20266419	14436	2	C	T	T	19	19	SDC1	T	1	1
ZDBF2	57683	broad.mit.edu	36	2	206884397	206884397	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206884397C>T	uc002vbp.2	+	c.6900C>T	c.(6898-6900)CGC>CGT	p.R2300R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2300							nucleic acid binding|zinc ion binding			ovary(3)	3														0.413793	32.887234	33.076973	12	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	206884397	206884397	18187	2	C	T	T	27	27	ZDBF2	T	1	1
LOC200726	200726	broad.mit.edu	36	2	207217398	207217398	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:207217398G>A	uc010fuh.1	+	c.193G>A	c.(193-195)GTT>ATT	p.V65I		NM_001102659	NP_001096129			hypothetical protein LOC200726												0														0.333333	53.00828	54.409376	19	38	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)	Missense_Mutation	SNP	207217398	207217398	9212	2	G	A	A	40	40	LOC200726	A	1	1
CRYGB	1419	broad.mit.edu	36	2	208718952	208718952	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:208718952G>A	uc002vcp.2	-	c.43C>T	c.(43-45)CGC>TGC	p.R15C		NM_005210	NP_005201	P07316	CRGB_HUMAN	crystallin, gamma B	15	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens				0														0.36	108.396731	110.11174	36	64	GG		KEEP	---	---	---	---	capture		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	Missense_Mutation	SNP	208718952	208718952	4054	2	G	A	A	39	39	CRYGB	A	1	1
SLC11A1	6556	broad.mit.edu	36	2	218962859	218962859	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:218962859G>A	uc002vhv.1	+	c.818G>A	c.(817-819)CGC>CAC	p.R273H	SLC11A1_uc010fvp.1_Missense_Mutation_p.R273H|SLC11A1_uc010fvq.1_Missense_Mutation_p.R206H|SLC11A1_uc002vhu.1_Missense_Mutation_p.R68H|SLC11A1_uc002vhw.1_Missense_Mutation_p.R155H|SLC11A1_uc010fvr.1_Missense_Mutation_p.R68H	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	273	Cytoplasmic (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)												0.419355	73.734721	74.087454	26	36	GG		KEEP	---	---	---	---	capture		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	218962859	218962859	14875	2	G	A	A	38	38	SLC11A1	A	1	1
ZNF142	7701	broad.mit.edu	36	2	219211544	219211544	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219211544C>T	uc002vin.1	-	c.4826G>A	c.(4825-4827)CGC>CAC	p.R1609H	ZNF142_uc002vil.1_Missense_Mutation_p.R1570H|ZNF142_uc002vim.1_Missense_Mutation_p.R1446H|ZNF142_uc010fvt.1_Missense_Mutation_p.R1446H	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142 isoform 1	1609	C2H2-type 30.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3		Renal(207;0.0474)				Colon(170;867 1942 8995 15834 18053)								0.6	126.758337	127.370917	42	28	CC		KEEP	---	---	---	---	capture		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Missense_Mutation	SNP	219211544	219211544	18322	2	C	T	T	27	27	ZNF142	T	1	1
RNF25	64320	broad.mit.edu	36	2	219237250	219237250	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219237250G>A	uc002vit.1	-	c.1054C>T	c.(1054-1056)CGG>TGG	p.R352W	RNF25_uc010fvw.1_Missense_Mutation_p.R240W	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	352					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)												0.402844	239.832885	241.573636	85	126	GG		KEEP	---	---	---	---	capture		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219237250	219237250	13964	2	G	A	A	40	40	RNF25	A	1	1
SPEG	10290	broad.mit.edu	36	2	220056100	220056100	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220056100C>T	uc010fwg.1	+	c.5671C>T	c.(5671-5673)CGC>TGC	p.R1891C		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1891					muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)								482				0.333333	20.491084	21.081957	8	16	CC		KEEP	---	---	---	---	capture		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	Missense_Mutation	SNP	220056100	220056100	15548	2	C	T	T	27	27	SPEG	T	1	1
TMEM198	130612	broad.mit.edu	36	2	220122308	220122308	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220122308C>T	uc002vme.1	+	c.933C>T	c.(931-933)GAC>GAT	p.D311D	TMEM198_uc002vmf.1_Silent_p.D311D	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	311						integral to membrane				ovary(1)	1		Renal(207;0.0376)												0.363636	56.49165	57.388591	20	35	CC		KEEP	---	---	---	---	capture		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	Silent	SNP	220122308	220122308	16654	2	C	T	T	19	19	TMEM198	T	1	1
KCNE4	23704	broad.mit.edu	36	2	223626116	223626116	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:223626116C>T	uc002vnl.2	+	c.324C>T	c.(322-324)AGC>AGT	p.S108S	KCNE4_uc010fwu.1_Silent_p.S108S	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related	108	Cytoplasmic (Potential).					integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)												0.413333	86.141529	86.624341	31	44	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	Silent	SNP	223626116	223626116	8330	2	C	T	T	27	27	KCNE4	T	1	1
SH3YL1	26751	broad.mit.edu	36	2	224212	224212	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:224212C>T	uc002qvx.1	-	c.352G>A	c.(352-354)GGA>AGA	p.G118R	SH3YL1_uc002qvu.1_Non-coding_Transcript|SH3YL1_uc002qvv.1_Missense_Mutation_p.G22R|SH3YL1_uc002qvw.1_Non-coding_Transcript|SH3YL1_uc002qvy.1_Missense_Mutation_p.G118R|SH3YL1_uc002qvz.1_Non-coding_Transcript|SH3YL1_uc002qwa.1_Non-coding_Transcript|SH3YL1_uc010ewe.1_Missense_Mutation_p.G22R	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	SH3 domain containing, Ysc84-like 1	118										ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)												0.394286	209.341756	211.052229	69	106	CC		KEEP	---	---	---	---	capture		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)	Missense_Mutation	SNP	224212	224212	14755	2	C	T	T	23	23	SH3YL1	T	1	1
TRIP12	9320	broad.mit.edu	36	2	230377055	230377055	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:230377055G>A	uc002vpx.1	-	c.2702C>T	c.(2701-2703)GCG>GTG	p.A901V	TRIP12_uc002vpw.1_Missense_Mutation_p.A853V|TRIP12_uc002vpy.1_Missense_Mutation_p.A583V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	853					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)												0.267442	119.79172	128.179931	46	126	GG		KEEP	---	---	---	---	capture		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	Missense_Mutation	SNP	230377055	230377055	17106	2	G	A	A	38	38	TRIP12	A	1	1
SP110	3431	broad.mit.edu	36	2	230750558	230750558	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:230750558G>A	uc002vqg.2	-	c.1530C>T	c.(1528-1530)AAC>AAT	p.N510N	SP110_uc002vqh.2_Silent_p.N510N|SP110_uc010fxj.1_Silent_p.N153N|SP110_uc002vqi.2_Silent_p.N510N|SP110_uc010fxk.1_Silent_p.N508N	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform c	510	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)								445				0.320151	458.373714	473.62789	170	361	GG		KEEP	---	---	---	---	capture		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	Silent	SNP	230750558	230750558	15461	2	G	A	A	40	40	SP110	A	1	1
ALPPL2	251	broad.mit.edu	36	2	232980340	232980340	+	Silent	SNP	C	T	T	rs41265117	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:232980340C>T	uc002vss.2	+	c.285C>T	c.(283-285)TAC>TAT	p.Y95Y		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	95					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding				0		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)			Amifostine(DB01143)|Levamisole(DB00848)									0.195652	20.051823	24.021213	9	37	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	232980340	232980340	552	2	C	T	T	19	19	ALPPL2	T	1	1
ALPI	248	broad.mit.edu	36	2	233030790	233030790	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233030790G>A	uc002vst.2	+	c.825G>A	c.(823-825)GCG>GCA	p.A275A	ALPI_uc002vsu.2_Silent_p.A186A	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	275					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(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)												0.29878	130.11067	136.045811	49	115	GG		KEEP	---	---	---	---	capture		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Silent	SNP	233030790	233030790	546	2	G	A	A	40	40	ALPI	A	1	1
TRPM8	79054	broad.mit.edu	36	2	234519401	234519401	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234519401C>T	uc002vvh.1	+	c.862C>T	c.(862-864)CGC>TGC	p.R288C	TRPM8_uc010fyj.1_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	288	Cytoplasmic (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)			Menthol(DB00825)					505				0.421687	104.412638	104.856108	35	48	CC		KEEP	---	---	---	---	capture		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Missense_Mutation	SNP	234519401	234519401	17143	2	C	T	T	27	27	TRPM8	T	1	1
ILKAP	80895	broad.mit.edu	36	2	238761548	238761548	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238761548C>T	uc002vxv.1	-	c.388G>A	c.(388-390)GAC>AAC	p.D130N	ILKAP_uc002vxw.1_Missense_Mutation_p.D10N	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	130	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)												0.448276	75.536181	75.67203	26	32	CC		KEEP	---	---	---	---	capture		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	Missense_Mutation	SNP	238761548	238761548	8015	2	C	T	T	31	31	ILKAP	T	1	1
HDAC4	9759	broad.mit.edu	36	2	239713228	239713228	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:239713228C>T	uc002vyk.2	-	c.1379G>A	c.(1378-1380)CGC>CAC	p.R460H	HDAC4_uc010fyy.1_Missense_Mutation_p.R417H|HDAC4_uc010fyz.1_Missense_Mutation_p.R455H|HDAC4_uc010fza.1_Missense_Mutation_p.R465H|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	460					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription activator activity|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)								606				0.341463	35.434127	36.346314	14	27	CC		KEEP	---	---	---	---	capture		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	Missense_Mutation	SNP	239713228	239713228	7292	2	C	T	T	27	27	HDAC4	T	1	1
ANKMY1	51281	broad.mit.edu	36	2	241112143	241112143	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241112143G>A	uc010fzd.1	-	c.1664C>T	c.(1663-1665)ACG>ATG	p.T555M	ANKMY1_uc002vyz.1_Missense_Mutation_p.T466M|ANKMY1_uc002vza.1_Missense_Mutation_p.T325M|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.T325M|ANKMY1_uc002vzd.1_Missense_Mutation_p.T325M|ANKMY1_uc010fze.1_Missense_Mutation_p.T135M|ANKMY1_uc002vze.2_Missense_Mutation_p.T227M	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	466							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.397351	172.876945	174.265881	60	91	GG		KEEP	---	---	---	---	capture		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	Missense_Mutation	SNP	241112143	241112143	637	2	G	A	A	40	40	ANKMY1	A	1	1
GAL3ST2	64090	broad.mit.edu	36	2	242390050	242390050	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:242390050C>T	uc002wcj.1	+	c.301C>T	c.(301-303)CGC>TGC	p.R101C		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	101	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				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)												0.328358	57.224819	58.976273	22	45	CC		KEEP	---	---	---	---	capture		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)	Missense_Mutation	SNP	242390050	242390050	6462	2	C	T	T	27	27	GAL3ST2	T	1	1
ADCY3	109	broad.mit.edu	36	2	24917678	24917678	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:24917678C>T	uc002rfs.2	-	c.1150G>A	c.(1150-1152)GCC>ACC	p.A384T	ADCY3_uc002rfr.2_5'UTR	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	384	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)													0.4375	18.821751	18.876328	7	9	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24917678	24917678	296	2	C	T	T	27	27	ADCY3	T	1	1
DNMT3A	1788	broad.mit.edu	36	2	25324001	25324001	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25324001C>T	uc002rgc.1	-	c.977G>A	c.(976-978)CGC>CAC	p.R326H	DNMT3A_uc002rgb.1_Missense_Mutation_p.R137H|DNMT3A_uc002rgd.1_Missense_Mutation_p.R326H|DNMT3A_uc010eyi.1_Non-coding_Transcript	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	326	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.297872	69.639327	73.089993	28	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25324001	25324001	4859	2	C	T	T	27	27	DNMT3A	T	1	1
OTOF	9381	broad.mit.edu	36	2	26558804	26558804	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:26558804C>T	uc002rhk.1	-	c.1553G>A	c.(1552-1554)CGC>CAC	p.R518H		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	518	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(102;732 1451 20652 24062 31372)								0.342342	105.113141	107.55232	38	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26558804	26558804	11715	2	C	T	T	27	27	OTOF	T	1	1
KRTCAP3	200634	broad.mit.edu	36	2	27519245	27519245	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27519245G>A	uc002rks.1	+	c.246G>A	c.(244-246)GCG>GCA	p.A82A	KRTCAP3_uc002rkt.2_Silent_p.A64A	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	82	Helical; (Potential).					integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)													0.275	54.027555	57.667823	22	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	27519245	27519245	8902	2	G	A	A	40	40	KRTCAP3	A	1	1
FAM179A	165186	broad.mit.edu	36	2	29094232	29094232	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29094232C>T	uc010ezl.1	+	c.1266C>T	c.(1264-1266)GAC>GAT	p.D422D	FAM179A_uc002rmr.2_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	422							binding			ovary(3)|skin(1)	4														0.272727	15.246133	16.266795	6	16	CC		KEEP	---	---	---	---	capture			Silent	SNP	29094232	29094232	5711	2	C	T	T	19	19	FAM179A	T	1	1
FAM179A	165186	broad.mit.edu	36	2	29111963	29111963	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29111963C>T	uc010ezl.1	+	c.2355C>T	c.(2353-2355)GGC>GGT	p.G785G	FAM179A_uc002rmr.2_Silent_p.G312G|FAM179A_uc002rms.1_Silent_p.G83G	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	785							binding			ovary(3)|skin(1)	4														0.318182	15.213587	15.862352	7	15	CC		KEEP	---	---	---	---	capture			Silent	SNP	29111963	29111963	5711	2	C	T	T	27	27	FAM179A	T	1	1
COLEC11	78989	broad.mit.edu	36	2	3669526	3669526	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:3669526C>T	uc002qya.1	+	c.759C>T	c.(757-759)GAC>GAT	p.D253D	COLEC11_uc002qxz.1_Silent_p.D250D|COLEC11_uc002qyb.1_Silent_p.D229D|COLEC11_uc002qyc.1_Silent_p.D229D|COLEC11_uc010ewo.1_Silent_p.D205D|COLEC11_uc010ewp.1_Silent_p.D227D|COLEC11_uc010ewq.1_Silent_p.D203D|COLEC11_uc010ewr.1_Silent_p.D203D|COLEC11_uc010ews.1_Silent_p.D179D	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	253	C-type lectin.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)													0.272727	40.98373	44.018904	18	48	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(76;0.127)	Silent	SNP	3669526	3669526	3849	2	C	T	T	19	19	COLEC11	T	1	1
CDC42EP3	10602	broad.mit.edu	36	2	37726963	37726963	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:37726963G>A	uc002rqi.1	-	c.272C>T	c.(271-273)TCG>TTG	p.S91L	CDC42EP3_uc010fai.1_Missense_Mutation_p.S91L	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	91					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)												0.340659	175.818644	179.891321	62	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37726963	37726963	3205	2	G	A	A	37	37	CDC42EP3	A	1	1
ABCG8	64241	broad.mit.edu	36	2	43933259	43933259	+	Missense_Mutation	SNP	G	A	A	rs34754243	unknown	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:43933259G>A	uc002rtq.1	+	c.712G>A	c.(712-714)GAA>AAA	p.E238K		NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	238	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.453488	234.0203	234.344471	78	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43933259	43933259	73	2	G	A	A	37	37	ABCG8	A	1	1
SLC3A1	6519	broad.mit.edu	36	2	44381759	44381759	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:44381759C>T	uc002ruc.2	+	c.1125C>T	c.(1123-1125)CCC>CCT	p.P375P	SLC3A1_uc002rty.2_Silent_p.P375P|SLC3A1_uc002rtz.2_Silent_p.P375P|SLC3A1_uc002rua.2_Silent_p.P375P|SLC3A1_uc002rub.2_Silent_p.P375P|SLC3A1_uc002rud.2_Silent_p.P97P|SLC3A1_uc002rue.2_5'Flank	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	375	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)									0.287671	59.945684	62.896632	21	52	CC		KEEP	---	---	---	---	capture			Silent	SNP	44381759	44381759	15123	2	C	T	T	23	23	SLC3A1	T	1	1
PRKCE	5581	broad.mit.edu	36	2	46231818	46231818	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:46231818C>T	uc002rut.1	+	c.1866C>T	c.(1864-1866)GAC>GAT	p.D622D		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	622	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation|protein phosphorylation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(3)|ovary(2)|large_intestine(1)|kidney(1)	7		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)								460				0.419355	76.744806	77.095175	26	36	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(58;0.171)		Silent	SNP	46231818	46231818	12954	2	C	T	T	19	19	PRKCE	T	1	1
TTC7A	57217	broad.mit.edu	36	2	47087293	47087293	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:47087293C>T	uc010fbb.1	+	c.1213C>T	c.(1213-1215)CGA>TGA	p.R405*	TTC7A_uc002rvm.1_Nonsense_Mutation_p.R371*|TTC7A_uc002rvn.1_Nonsense_Mutation_p.R286*|TTC7A_uc002rvo.1_Nonsense_Mutation_p.R405*|TTC7A_uc010fbc.1_Nonsense_Mutation_p.R51*|TTC7A_uc002rvp.1_Nonsense_Mutation_p.R286*|TTC7A_uc002rvq.1_Nonsense_Mutation_p.R145*|TTC7A_uc002rvr.1_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	405							binding			breast(1)	1		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)												0.338462	57.723297	59.178237	22	43	CC		KEEP	---	---	---	---	capture	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Nonsense_Mutation	SNP	47087293	47087293	17267	2	C	T	T	27	27	TTC7A	T	5	1
STON1-GTF2A1L	286749	broad.mit.edu	36	2	48727532	48727532	+	Silent	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:48727532T>C	uc002rwp.1	+	c.2937T>C	c.(2935-2937)CAT>CAC	p.H979H	GTF2A1L_uc002rws.1_Silent_p.H275H|GTF2A1L_uc002rwt.1_Silent_p.H275H	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	STON1-GTF2A1L protein	932					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex	RNA polymerase II transcription factor activity			ovary(3)|pancreas(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)												0.247619	66.400049	72.485407	26	79	TT		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Silent	SNP	48727532	48727532	15837	2	T	C	C	51	51	STON1-GTF2A1L	C	4	4
STON1-GTF2A1L	286749	broad.mit.edu	36	2	48750517	48750517	+	Silent	SNP	C	T	T	rs34643307	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:48750517C>T	uc002rwp.1	+	c.3243C>T	c.(3241-3243)GAC>GAT	p.D1081D	GTF2A1L_uc002rws.1_Silent_p.D377D|GTF2A1L_uc002rwt.1_Silent_p.D377D	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	STON1-GTF2A1L protein	1034					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex	RNA polymerase II transcription factor activity			ovary(3)|pancreas(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)												0.391813	189.667401	191.425012	67	104	CC		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Silent	SNP	48750517	48750517	15837	2	C	T	T	19	19	STON1-GTF2A1L	T	1	1
BCL11A	53335	broad.mit.edu	36	2	60541725	60541725	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:60541725G>A	uc002sae.1	-	c.1826C>T	c.(1825-1827)CCG>CTG	p.P609L	BCL11A_uc002sab.1_Missense_Mutation_p.P609L|BCL11A_uc002sac.1_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.P457L|BCL11A_uc002saf.1_Missense_Mutation_p.P575L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	609					protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11										131				0.323529	28.316317	29.254753	11	23	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		Missense_Mutation	SNP	60541725	60541725	1384	2	G	A	A	39	39	BCL11A	A	1	1
BCL11A	53335	broad.mit.edu	36	2	60542034	60542034	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:60542034G>A	uc002sae.1	-	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	BCL11A_uc002sab.1_Missense_Mutation_p.T506M|BCL11A_uc002sac.1_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.T354M|BCL11A_uc002saf.1_Missense_Mutation_p.T472M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	506	Glu-rich.				protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11										131				0.423077	30.133622	30.263828	11	15	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		Missense_Mutation	SNP	60542034	60542034	1384	2	G	A	A	40	40	BCL11A	A	1	1
REL	5966	broad.mit.edu	36	2	60999105	60999105	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:60999105G>A	uc002sam.1	+	c.713G>A	c.(712-714)CGT>CAT	p.R238H	REL_uc002san.1_Missense_Mutation_p.R238H	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	238	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_hematologic(2;0.0797)	Ovarian(717;0.0728)								156				0.353333	146.859189	149.690976	53	97	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		Missense_Mutation	SNP	60999105	60999105	13684	2	G	A	A	40	40	REL	A	1	1
NAGK	55577	broad.mit.edu	36	2	71154197	71154197	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71154197G>A	uc002shp.2	+	c.544G>A	c.(544-546)GGC>AGC	p.G182S	NAGK_uc010fea.1_Non-coding_Transcript|NAGK_uc002shq.2_Missense_Mutation_p.G33S|NAGK_uc002shr.1_Missense_Mutation_p.G131S	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	182					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)									0.352436	369.273951	375.952364	123	226	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71154197	71154197	10538	2	G	A	A	39	39	NAGK	A	1	1
DYSF	8291	broad.mit.edu	36	2	71654938	71654938	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71654938C>T	uc010fen.1	+	c.3331C>T	c.(3331-3333)CGC>TGC	p.R1111C	DYSF_uc002sie.1_Missense_Mutation_p.R1093C|DYSF_uc002sig.2_Missense_Mutation_p.R1079C|DYSF_uc010fee.1_Missense_Mutation_p.R1093C|DYSF_uc010fef.1_Missense_Mutation_p.R1110C|DYSF_uc010feg.1_Missense_Mutation_p.R1124C|DYSF_uc010feh.1_Missense_Mutation_p.R1079C|DYSF_uc010fei.1_Missense_Mutation_p.R1110C|DYSF_uc010fej.1_Missense_Mutation_p.R1080C|DYSF_uc002sif.1_Missense_Mutation_p.R1094C|DYSF_uc010fek.1_Missense_Mutation_p.R1111C|DYSF_uc010fel.1_Missense_Mutation_p.R1080C|DYSF_uc010fem.1_Missense_Mutation_p.R1094C|DYSF_uc010feo.1_Missense_Mutation_p.R1125C	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1093	Cytoplasmic (Potential).|Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.358209	139.675091	142.041878	48	86	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71654938	71654938	5045	2	C	T	T	23	23	DYSF	T	1	1
DYSF	8291	broad.mit.edu	36	2	71681388	71681388	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71681388C>T	uc010fen.1	+	c.3805C>T	c.(3805-3807)CGG>TGG	p.R1269W	DYSF_uc002sie.1_Missense_Mutation_p.R1251W|DYSF_uc002sig.2_Missense_Mutation_p.R1237W|DYSF_uc010fee.1_Missense_Mutation_p.R1251W|DYSF_uc010fef.1_Missense_Mutation_p.R1268W|DYSF_uc010feg.1_Missense_Mutation_p.R1282W|DYSF_uc010feh.1_Missense_Mutation_p.R1237W|DYSF_uc010fei.1_Missense_Mutation_p.R1268W|DYSF_uc010fej.1_Missense_Mutation_p.R1238W|DYSF_uc002sif.1_Missense_Mutation_p.R1252W|DYSF_uc010fek.1_Missense_Mutation_p.R1269W|DYSF_uc010fel.1_Missense_Mutation_p.R1238W|DYSF_uc010fem.1_Missense_Mutation_p.R1252W|DYSF_uc010feo.1_Missense_Mutation_p.R1283W	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1251	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.333333	125.374407	128.844899	47	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71681388	71681388	5045	2	C	T	T	19	19	DYSF	T	1	1
TET3	200424	broad.mit.edu	36	2	74128362	74128362	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74128362C>T	uc002skb.2	+	c.1405C>T	c.(1405-1407)CGA>TGA	p.R469*	TET3_uc010fez.1_Nonsense_Mutation_p.R469*	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	469					oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.392857	32.618656	32.900127	11	17	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	74128362	74128362	16298	2	C	T	T	23	23	TET3	T	5	1
MAT2A	4144	broad.mit.edu	36	2	85623649	85623649	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:85623649C>T	uc002spr.1	+	c.1066C>T	c.(1066-1068)CGC>TGC	p.R356C	MAT2A_uc010fgk.1_Missense_Mutation_p.R330C|MAT2A_uc010fgl.1_Missense_Mutation_p.R293C	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	356					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)									0.413043	177.754748	178.664784	57	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85623649	85623649	9714	2	C	T	T	23	23	MAT2A	T	1	1
MRPS5	64969	broad.mit.edu	36	2	95137717	95137717	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:95137717C>T	uc002sub.1	-	c.567G>A	c.(565-567)CGG>CGA	p.R189R	MRPS5_uc002suc.1_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	189					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3														0.335329	165.759101	169.76073	56	111	CC		KEEP	---	---	---	---	capture			Silent	SNP	95137717	95137717	10239	2	C	T	T	22	22	MRPS5	T	2	2
PROM2	150696	broad.mit.edu	36	2	95314526	95314526	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:95314526G>A	uc002suh.1	+	c.1811G>A	c.(1810-1812)CGG>CAG	p.R604Q	PROM2_uc002suk.2_Missense_Mutation_p.R604Q|PROM2_uc002sui.1_Missense_Mutation_p.R604Q|PROM2_uc002suj.1_Missense_Mutation_p.R258Q|PROM2_uc002sul.1_Missense_Mutation_p.R130Q|PROM2_uc002sum.1_Intron	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2	604	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1														0.545455	19.250631	19.270353	6	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95314526	95314526	12999	2	G	A	A	39	39	PROM2	A	1	1
IAH1	285148	broad.mit.edu	36	2	9538908	9538908	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:9538908C>T	uc002qzr.1	+	c.326C>T	c.(325-327)GCG>GTG	p.A109V	IAH1_uc002qzs.1_5'UTR|IAH1_uc002qzt.1_5'UTR	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	109					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.297297	89.838796	93.912502	33	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9538908	9538908	7771	2	C	T	T	27	27	IAH1	T	1	1
ITPRIPL1	150771	broad.mit.edu	36	2	96357513	96357513	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96357513C>T	uc002svy.1	+	c.1441C>T	c.(1441-1443)CGG>TGG	p.R481W	ITPRIPL1_uc002svx.1_Missense_Mutation_p.R473W	NM_178495	NP_848590	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	473	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2														0.427711	208.192346	208.9493	71	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96357513	96357513	8228	2	C	T	T	27	27	ITPRIPL1	T	1	1
SEMA4C	54910	broad.mit.edu	36	2	96895130	96895130	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96895130G>A	uc002sxg.2	-	c.579C>T	c.(577-579)GTC>GTT	p.V193V	SEMA4C_uc002sxf.2_5'Flank|SEMA4C_uc002sxh.2_Silent_p.V140V|SEMA4C_uc002sxe.2_5'Flank	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C	140	Extracellular (Potential).|Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(1)	1														0.418182	68.11565	68.43691	23	32	GG		KEEP	---	---	---	---	capture			Silent	SNP	96895130	96895130	14519	2	G	A	A	37	37	SEMA4C	A	1	1
TMEM131	23505	broad.mit.edu	36	2	97910346	97910346	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:97910346C>T	uc002syh.2	-	c.224G>A	c.(223-225)CGT>CAT	p.R75H	TMEM131_uc002syi.2_Missense_Mutation_p.R75H	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	75						integral to membrane				ovary(4)|central_nervous_system(2)	6														0.372549	54.318303	55.043392	19	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97910346	97910346	16575	2	C	T	T	19	19	TMEM131	T	1	1
C2orf55	343990	broad.mit.edu	36	2	98780256	98780256	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:98780256C>T	uc002szf.1	-	c.2593G>A	c.(2593-2595)GAG>AAG	p.E865K		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	865											0														0.378378	198.695858	201.099889	70	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98780256	98780256	2264	2	C	T	T	31	31	C2orf55	T	1	1
TSGA10	80705	broad.mit.edu	36	2	99001108	99001108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99001108G>A	uc002szg.2	-	c.2059C>T	c.(2059-2061)CGA>TGA	p.R687*	TSGA10_uc002szh.2_Nonsense_Mutation_p.R687*|TSGA10_uc002szi.2_Nonsense_Mutation_p.R687*|TSGA10_uc010fin.1_Nonsense_Mutation_p.R687*	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	687	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2														0.330189	101.49354	104.200297	35	71	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	99001108	99001108	17168	2	G	A	A	37	37	TSGA10	A	5	1
TSGA10	80705	broad.mit.edu	36	2	99001222	99001222	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99001222G>A	uc002szg.2	-	c.1945C>T	c.(1945-1947)CGC>TGC	p.R649C	TSGA10_uc002szh.2_Missense_Mutation_p.R649C|TSGA10_uc002szi.2_Missense_Mutation_p.R649C|TSGA10_uc010fin.1_Missense_Mutation_p.R649C	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	649	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2														0.39823	134.145688	135.17116	45	68	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99001222	99001222	17168	2	G	A	A	37	37	TSGA10	A	1	1
DCBLD2	131566	broad.mit.edu	36	3	100001215	100001215	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:100001215C>T	uc003dte.1	-	c.2061G>A	c.(2059-2061)ACG>ACA	p.T687T	DCBLD2_uc003dtd.1_Silent_p.T673T	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	673	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3														0.38843	141.503329	142.820893	47	74	CC		KEEP	---	---	---	---	capture			Silent	SNP	100001215	100001215	4452	3	C	T	T	23	23	DCBLD2	T	1	1
COL8A1	1295	broad.mit.edu	36	3	100997379	100997379	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:100997379G>A	uc003dti.1	+	c.1947G>A	c.(1945-1947)CCG>CCA	p.P649P	COL8A1_uc003dtg.1_Silent_p.P648P|COL8A1_uc003dth.1_Silent_p.P648P	NM_020351	NP_065084	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	648	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0														0.37931	93.362266	94.470714	33	54	GG		KEEP	---	---	---	---	capture			Silent	SNP	100997379	100997379	3843	3	G	A	A	38	38	COL8A1	A	1	1
IMPG2	50939	broad.mit.edu	36	3	102430979	102430979	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:102430979C>T	uc003duq.1	-	c.3568G>A	c.(3568-3570)GTG>ATG	p.V1190M	IMPG2_uc010hpj.1_Non-coding_Transcript	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1190	Cytoplasmic (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3														0.427536	173.903252	174.534933	59	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102430979	102430979	8030	3	C	T	T	19	19	IMPG2	T	1	1
WDR52	55779	broad.mit.edu	36	3	114621562	114621562	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114621562C>T	uc003eae.1	-	c.562G>A	c.(562-564)GTC>ATC	p.V188I		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52	188										central_nervous_system(1)	1														0.29	74.931127	78.885294	29	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114621562	114621562	17877	3	C	T	T	19	19	WDR52	T	1	1
IGSF11	152404	broad.mit.edu	36	3	120130211	120130211	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:120130211G>A	uc003ebw.1	-	c.259C>T	c.(259-261)CGG>TGG	p.R87W	IGSF11_uc003ebx.1_Missense_Mutation_p.R87W|IGSF11_uc003eby.1_Missense_Mutation_p.R86W|IGSF11_uc003ebz.1_Missense_Mutation_p.R86W|IGSF11_uc010hqs.1_Missense_Mutation_p.R86W	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	87	Ig-like V-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0														0.376812	80.435605	81.353659	26	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120130211	120130211	7899	3	G	A	A	39	39	IGSF11	A	1	1
FBXO40	51725	broad.mit.edu	36	3	122823565	122823565	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122823565G>A	uc003eeg.2	+	c.599G>A	c.(598-600)CGG>CAG	p.R200Q		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	200						centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.453125	89.269222	89.391427	29	35	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.189)	Missense_Mutation	SNP	122823565	122823565	5986	3	G	A	A	39	39	FBXO40	A	1	1
ABTB1	80325	broad.mit.edu	36	3	128881909	128881909	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128881909C>T	uc003ejt.1	+	c.1338C>T	c.(1336-1338)CAC>CAT	p.H446H	ABTB1_uc003ejr.1_Silent_p.H304H|ABTB1_uc003ejs.1_Silent_p.H421H|ABTB1_uc003eju.1_Silent_p.H304H|ABTB1_uc010hsm.1_Silent_p.H173H	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	446						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0														0.444444	22.797841	22.846131	8	10	CC		KEEP	---	---	---	---	capture			Silent	SNP	128881909	128881909	103	3	C	T	T	19	19	ABTB1	T	1	1
PLXND1	23129	broad.mit.edu	36	3	130787775	130787775	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:130787775C>T	uc003emx.2	-	c.1651G>A	c.(1651-1653)GTG>ATG	p.V551M		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	551	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						Ovarian(97;366 1484 3738 22084 39045)								0.363636	11.797281	11.977132	4	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130787775	130787775	12553	3	C	T	T	19	19	PLXND1	T	1	1
ATP2C1	27032	broad.mit.edu	36	3	132202857	132202857	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:132202857G>A	uc003ens.1	+	c.2733G>A	c.(2731-2733)TCG>TCA	p.S911S	ATP2C1_uc003enk.1_Silent_p.S895S|ATP2C1_uc003enl.1_Silent_p.S911S|ATP2C1_uc003enn.1_Intron|ATP2C1_uc003enm.1_Intron|ATP2C1_uc003eno.1_Silent_p.S911S|ATP2C1_uc003enp.1_Intron|ATP2C1_uc003enq.1_Silent_p.S911S|ATP2C1_uc003enr.1_Intron|ATP2C1_uc003ent.1_Intron|ATP2C1_uc003enu.1_Silent_p.S589S	NM_001001486	NP_001001486	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1d	911	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	Esophageal Squamous(99;456 1443 27647 34099 42636)								0.405405	133.548874	134.418203	45	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	132202857	132202857	1162	3	G	A	A	37	37	ATP2C1	A	1	1
TOPBP1	11073	broad.mit.edu	36	3	134821714	134821714	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:134821714G>A	uc003eps.1	-	c.3085C>T	c.(3085-3087)CGA>TGA	p.R1029*	TOPBP1_uc003ept.1_Nonsense_Mutation_p.R120*	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1116					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						Ovarian(21;193 658 4424 15423 17362)				428				0.350877	57.283863	58.401584	20	37	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	134821714	134821714	16911	3	G	A	A	40	40	TOPBP1	A	5	1
TF	7018	broad.mit.edu	36	3	134967909	134967909	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:134967909C>T	uc003epu.1	+	c.1428C>T	c.(1426-1428)ACC>ACT	p.T476T	TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.T476T	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin	476	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)	1					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)									0.343629	256.924875	262.505521	89	170	CC		KEEP	---	---	---	---	capture			Silent	SNP	134967909	134967909	16313	3	C	T	T	23	23	TF	T	1	1
RYK	6259	broad.mit.edu	36	3	135390396	135390396	+	Missense_Mutation	SNP	T	G	G			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:135390396T>G	uc003eqc.1	-	c.1078A>C	c.(1078-1080)ACA>CCA	p.T360P	RYK_uc003eqd.1_Missense_Mutation_p.T357P	NM_001005861	NP_001005861	P34925	RYK_HUMAN	RYK receptor-like tyrosine kinase isoform 1	Error:Variant_position_missing_in_P34925_after_alignment					corpus callosum development|positive regulation of MAPKKK cascade|protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(1)	4										579				0.423077	38.52239	38.65627	11	15	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135390396	135390396	14247	3	T	G	G	60	60	RYK	G	4	4
TRIM42	287015	broad.mit.edu	36	3	141889324	141889324	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:141889324G>A	uc003eto.1	+	c.1110G>A	c.(1108-1110)GAG>GAA	p.E370E		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	370						intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.380952	104.38083	105.424881	32	52	GG		KEEP	---	---	---	---	capture			Silent	SNP	141889324	141889324	17061	3	G	A	A	35	35	TRIM42	A	2	2
ACPL2	92370	broad.mit.edu	36	3	142494370	142494370	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:142494370G>A	uc003etu.1	+	c.1076G>A	c.(1075-1077)CGG>CAG	p.R359Q	ACPL2_uc003etv.1_Missense_Mutation_p.R359Q	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	359						extracellular region	acid phosphatase activity				0														0.408284	215.148464	216.389063	69	100	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142494370	142494370	167	3	G	A	A	39	39	ACPL2	A	1	1
FGD5	152273	broad.mit.edu	36	3	14836793	14836793	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14836793C>T	uc003bzc.1	+	c.488C>T	c.(487-489)GCG>GTG	p.A163V		NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	404					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.272727	20.382041	21.906834	9	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14836793	14836793	6073	3	C	T	T	27	27	FGD5	T	1	1
FGD5	152273	broad.mit.edu	36	3	14942627	14942627	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14942627G>A	uc003bzc.1	+	c.3392G>A	c.(3391-3393)CGG>CAG	p.R1131Q	FGD5_uc003bzd.1_Missense_Mutation_p.R450Q	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1372	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5												OREG0015361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.405063	88.59233	89.211536	32	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14942627	14942627	6073	3	G	A	A	39	39	FGD5	A	1	1
C3orf57	165679	broad.mit.edu	36	3	162546634	162546634	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:162546634G>A	uc003fee.1	-	c.172C>T	c.(172-174)CGC>TGC	p.R58C	C3orf57_uc010hwi.1_Missense_Mutation_p.R58C	NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	ADMP	58	Cytoplasmic (Potential).				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding				0														0.391892	84.859973	85.616829	29	45	GG		KEEP	---	---	---	---	capture	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		Missense_Mutation	SNP	162546634	162546634	2328	3	G	A	A	37	37	C3orf57	A	1	1
OTOL1	131149	broad.mit.edu	36	3	162703948	162703948	+	Missense_Mutation	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:162703948G>T	uc003fef.1	+	c.958G>T	c.(958-960)GGC>TGC	p.G320C		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	hypothetical protein LOC131149	320	Collagen-like 3.					collagen					0														0.375	51.536143	52.195343	18	30	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	162703948	162703948	11716	3	G	T	T	35	35	OTOL1	T	3	3
TNIK	23043	broad.mit.edu	36	3	172428700	172428700	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:172428700C>T	uc003fhh.1	-	c.128G>A	c.(127-129)CGT>CAT	p.R43H	TNIK_uc003fhi.1_Missense_Mutation_p.R43H|TNIK_uc003fhj.1_Missense_Mutation_p.R43H|TNIK_uc003fhk.1_Missense_Mutation_p.R43H|TNIK_uc003fhl.1_Missense_Mutation_p.R43H|TNIK_uc003fhm.1_Missense_Mutation_p.R43H|TNIK_uc003fhn.1_Missense_Mutation_p.R43H|TNIK_uc003fho.1_Missense_Mutation_p.R43H	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	43	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R43P(1)		ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)									743				0.326923	96.417543	99.179119	34	70	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Missense_Mutation	SNP	172428700	172428700	16854	3	C	T	T	19	19	TNIK	T	1	1
PIK3CA	5290	broad.mit.edu	36	3	180399585	180399585	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:180399585G>A	uc003fjk.1	+	c.278G>A	c.(277-279)CGG>CAG	p.R93Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	93					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R93Q(3)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)					Colon(199;1504 1750 3362 26421 31210 32040)		57		621	TCGA GBM(8;5.49e-07)			0.413793	266.303197	267.609503	84	119	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Missense_Mutation	SNP	180399585	180399585	12337	3	G	A	A	39	39	PIK3CA	A	1	1
KLHL6	89857	broad.mit.edu	36	3	184755986	184755986	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184755986G>A	uc003flr.1	-	c.150C>T	c.(148-150)GAC>GAT	p.D50D	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Silent_p.D48D	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	50										ovary(1)	1	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)													0.413907	371.028857	372.980911	125	177	GG		KEEP	---	---	---	---	capture	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		Silent	SNP	184755986	184755986	8707	3	G	A	A	40	40	KLHL6	A	1	1
DVL3	1857	broad.mit.edu	36	3	185367366	185367366	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185367366C>T	uc003fms.1	+	c.1107C>T	c.(1105-1107)ACC>ACT	p.T369T	DVL3_uc003fmt.1_Silent_p.T40T|DVL3_uc003fmu.1_Silent_p.T201T	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	369					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|breast(1)	2	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)													0.389706	161.944285	163.393653	53	83	CC		KEEP	---	---	---	---	capture	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		Silent	SNP	185367366	185367366	5023	3	C	T	T	23	23	DVL3	T	1	1
MASP1	5648	broad.mit.edu	36	3	188461326	188461326	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188461326G>A	uc003fri.1	-	c.444C>T	c.(442-444)GAC>GAT	p.D148D	MASP1_uc003frh.1_Silent_p.D148D|MASP1_uc003frj.1_Silent_p.D117D|MASP1_uc003frk.1_Silent_p.D148D	NM_139125	NP_624302	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	148	Interaction with FCN2.|Interaction with MBL2.|EGF-like; calcium-binding.|Homodimerization (By similarity).				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)													0.442308	129.535355	129.835979	46	58	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	Silent	SNP	188461326	188461326	9706	3	G	A	A	40	40	MASP1	A	1	1
TP63	8626	broad.mit.edu	36	3	191008877	191008877	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:191008877C>T	uc003fry.2	+	c.447C>T	c.(445-447)TAC>TAT	p.Y149Y	TP63_uc003frx.2_Silent_p.Y149Y|TP63_uc003frz.2_Silent_p.Y149Y|TP63_uc010hzc.1_Silent_p.Y149Y|TP63_uc003fsa.2_Silent_p.Y55Y|TP63_uc003fsb.2_Silent_p.Y55Y|TP63_uc003fsc.2_Silent_p.Y55Y|TP63_uc003fsd.2_Silent_p.Y55Y|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.Y30Y	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	149					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			lung(4)|ovary(2)|skin(2)	8	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)								p.Y149Y(ISHIKAWAHERAKLIO02ER-Tumor)	423				0.387755	110.831619	111.911988	38	60	CC		KEEP	---	---	---	---	capture	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	Silent	SNP	191008877	191008877	16936	3	C	T	T	19	19	TP63	T	1	1
MUC4	4585	broad.mit.edu	36	3	196965638	196965638	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:196965638G>A	uc010hzt.1	-	c.15079C>T	c.(15079-15081)CGC>TGC	p.R5027C	MUC4_uc003fvo.1_Missense_Mutation_p.R919C|MUC4_uc003fvp.1_Missense_Mutation_p.R868C|MUC4_uc010hzq.1_Missense_Mutation_p.R12C|MUC4_uc003fuz.1_Missense_Mutation_p.R753C|MUC4_uc003fva.1_Missense_Mutation_p.R635C|MUC4_uc003fvb.1_Missense_Mutation_p.R671C|MUC4_uc003fvd.1_Non-coding_Transcript|MUC4_uc003fve.1_Missense_Mutation_p.R671C|MUC4_uc003fvc.1_Non-coding_Transcript|MUC4_uc010hzr.1_Non-coding_Transcript|MUC4_uc003fvm.1_Missense_Mutation_p.R635C|MUC4_uc003fvg.1_Missense_Mutation_p.R719C|MUC4_uc003fvf.1_Non-coding_Transcript|MUC4_uc003fvh.1_Missense_Mutation_p.R719C|MUC4_uc010hzs.1_Missense_Mutation_p.R896C|MUC4_uc003fvi.1_Missense_Mutation_p.R635C|MUC4_uc003fvj.1_Missense_Mutation_p.R664C|MUC4_uc003fvk.1_Missense_Mutation_p.R844C|MUC4_uc003fvl.1_Missense_Mutation_p.R635C	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1912	EGF-like 1.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)												0.374046	143.540681	145.365495	49	82	GG		KEEP	---	---	---	---	capture	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	Missense_Mutation	SNP	196965638	196965638	10372	3	G	A	A	39	39	MUC4	A	1	1
ZDHHC19	131540	broad.mit.edu	36	3	197410113	197410113	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:197410113G>A	uc003fwc.1	-	c.717C>T	c.(715-717)TTC>TTT	p.F239F	ZDHHC19_uc010hzz.1_Non-coding_Transcript|ZDHHC19_uc010iaa.1_Non-coding_Transcript|ZDHHC19_uc010iab.1_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	239						integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)													0.377551	108.278186	109.557178	37	61	GG		KEEP	---	---	---	---	capture	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	Silent	SNP	197410113	197410113	18197	3	G	A	A	37	37	ZDHHC19	A	1	1
CMTM8	152189	broad.mit.edu	36	3	32386409	32386409	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:32386409C>T	uc003cex.1	+	c.468C>T	c.(466-468)TAC>TAT	p.Y156Y	CMTM8_uc010hfu.1_Silent_p.Y98Y	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing	156	MARVEL.|Helical; (Potential).				chemotaxis	extracellular space|integral to membrane	cytokine activity				0														0.41573	221.42884	222.529378	74	104	CC		KEEP	---	---	---	---	capture			Silent	SNP	32386409	32386409	3727	3	C	T	T	19	19	CMTM8	T	1	1
STAC	6769	broad.mit.edu	36	3	36460027	36460027	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:36460027G>A	uc003cgh.1	+	c.279G>A	c.(277-279)ACG>ACA	p.T93T	STAC_uc010hgd.1_Non-coding_Transcript	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	93					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			ovary(1)|pancreas(1)	2														0.389831	196.549955	198.426028	69	108	GG		KEEP	---	---	---	---	capture			Silent	SNP	36460027	36460027	15757	3	G	A	A	40	40	STAC	A	1	1
TRANK1	9881	broad.mit.edu	36	3	36862804	36862804	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:36862804G>A	uc003cgj.2	-	c.3348C>T	c.(3346-3348)CCC>CCT	p.P1116P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1666					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2														0.37931	32.118695	32.489015	11	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	36862804	36862804	16998	3	G	A	A	39	39	TRANK1	A	1	1
SLC22A14	9389	broad.mit.edu	36	3	38324162	38324162	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38324162G>A	uc010hhc.1	+	c.722G>A	c.(721-723)CGC>CAC	p.R241H	SLC22A14_uc003cia.2_3'UTR|SLC22A14_uc003cib.2_Missense_Mutation_p.R241H	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	241	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0														0.410042	283.334435	285.013882	98	141	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	Missense_Mutation	SNP	38324162	38324162	14941	3	G	A	A	38	38	SLC22A14	A	1	1
SCN5A	6331	broad.mit.edu	36	3	38572159	38572159	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38572159G>A	uc003cio.1	-	c.4534C>T	c.(4534-4536)CGG>TGG	p.R1512W	SCN5A_uc010hhh.1_Missense_Mutation_p.R15W|SCN5A_uc003cim.1_Missense_Mutation_p.R1324W|SCN5A_uc003cin.1_Missense_Mutation_p.R1511W|SCN5A_uc003cil.2_Missense_Mutation_p.R1512W|SCN5A_uc010hhi.1_Missense_Mutation_p.R1494W	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1512			R -> W (in BRS1; significantly affects cardiac sodium channel characteristics; associated with an increase in inward sodium current during the action potential upstroke).		blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.445946	99.468235	99.656027	33	41	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Missense_Mutation	SNP	38572159	38572159	14404	3	G	A	A	40	40	SCN5A	A	1	1
SCN5A	6331	broad.mit.edu	36	3	38591796	38591796	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38591796G>A	uc003cio.1	-	c.3662C>T	c.(3661-3663)GCG>GTG	p.A1221V	SCN5A_uc003cim.1_Missense_Mutation_p.A1033V|SCN5A_uc003cin.1_Missense_Mutation_p.A1220V|SCN5A_uc003cil.2_Missense_Mutation_p.A1221V|SCN5A_uc010hhi.1_Missense_Mutation_p.A1221V|SCN5A_uc010hhj.1_Missense_Mutation_p.A831V|SCN5A_uc010hhk.1_Missense_Mutation_p.A1086V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1221	Helical; Name=S1 of repeat III; (Potential).				blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)				Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.190476	8.589009	10.468831	4	17	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Missense_Mutation	SNP	38591796	38591796	14404	3	G	A	A	38	38	SCN5A	A	1	1
XIRP1	165904	broad.mit.edu	36	3	39204738	39204738	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:39204738G>A	uc003cjk.1	-	c.1203C>T	c.(1201-1203)CAC>CAT	p.H401H	XIRP1_uc003cji.2_Silent_p.H401H|XIRP1_uc003cjj.2_Intron|XIRP1_uc010hhp.1_Silent_p.H401H	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	401							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8														0.326816	314.819676	324.361731	117	241	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	Silent	SNP	39204738	39204738	18010	3	G	A	A	44	44	XIRP1	A	2	2
VIPR1	7433	broad.mit.edu	36	3	42544589	42544589	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:42544589C>T	uc003clf.1	+	c.606C>T	c.(604-606)AGC>AGT	p.S202S		NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	202	Extracellular (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity				0														0.304636	119.887394	125.033435	46	105	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.241)	Silent	SNP	42544589	42544589	17736	3	C	T	T	27	27	VIPR1	T	1	1
SLC6A20	54716	broad.mit.edu	36	3	45775509	45775509	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45775509G>A	uc003cou.1	-	c.1744C>T	c.(1744-1746)CGC>TGC	p.R582C	SLC6A20_uc003cov.1_Missense_Mutation_p.R545C|SLC6A20_uc003cow.1_Missense_Mutation_p.R232C	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	582	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2														0.465517	83.923171	83.982803	27	31	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	Missense_Mutation	SNP	45775509	45775509	15181	3	G	A	A	37	37	SLC6A20	A	1	1
SLC6A20	54716	broad.mit.edu	36	3	45779489	45779489	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:45779489G>A	uc003cou.1	-	c.1383C>T	c.(1381-1383)AAC>AAT	p.N461N	SLC6A20_uc003cov.1_Silent_p.N424N|SLC6A20_uc003cow.1_Silent_p.N111N	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	461	Extracellular (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2														0.364103	194.880045	198.044489	71	124	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	Silent	SNP	45779489	45779489	15181	3	G	A	A	40	40	SLC6A20	A	1	1
NBEAL2	23218	broad.mit.edu	36	3	47012923	47012923	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47012923C>T	uc003cqp.2	+	c.2310C>T	c.(2308-2310)TCC>TCT	p.S770S	NBEAL2_uc010hjm.1_Silent_p.S331S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	770							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)												0.380952	20.003489	20.26024	8	13	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	Silent	SNP	47012923	47012923	10585	3	C	T	T	23	23	NBEAL2	T	1	1
MAP4	4134	broad.mit.edu	36	3	47932721	47932721	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47932721C>T	uc003csb.1	-	c.1600G>A	c.(1600-1602)GTA>ATA	p.V534I	MAP4_uc003csc.2_Missense_Mutation_p.V534I|MAP4_uc003csf.2_Missense_Mutation_p.V551I	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	534	17.|17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3														0.342391	170.772383	174.809026	63	121	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Missense_Mutation	SNP	47932721	47932721	9641	3	C	T	T	19	19	MAP4	T	1	1
PFKFB4	5210	broad.mit.edu	36	3	48552178	48552178	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48552178G>A	uc003ctv.1	-	c.409C>T	c.(409-411)CGG>TGG	p.R137W	PFKFB4_uc003ctw.1_De_novo_Start_OutOfFrame|PFKFB4_uc003ctx.1_Missense_Mutation_p.R94W|PFKFB4_uc010hkb.1_Missense_Mutation_p.R137W|PFKFB4_uc010hkc.1_Missense_Mutation_p.R137W	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	137	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1														0.347826	111.365086	113.71565	40	75	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	Missense_Mutation	SNP	48552178	48552178	12185	3	G	A	A	40	40	PFKFB4	A	1	1
COL7A1	1294	broad.mit.edu	36	3	48605249	48605249	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48605249G>A	uc003ctz.2	-	c.809C>T	c.(808-810)ACG>ATG	p.T270M		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	270	Nonhelical region (NC1).|Fibronectin type-III 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9														0.258621	34.097033	37.15992	15	43	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	Missense_Mutation	SNP	48605249	48605249	3842	3	G	A	A	40	40	COL7A1	A	1	1
CELSR3	1951	broad.mit.edu	36	3	48657628	48657628	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48657628C>T	uc003cuf.1	-	c.8107G>A	c.(8107-8109)GCC>ACC	p.A2703T	CELSR3_uc010hkf.1_5'Flank|CELSR3_uc010hkg.1_Missense_Mutation_p.A589T|CELSR3_uc003cul.1_Missense_Mutation_p.A2606T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2606	Helical; Name=3; (Potential).				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														0.3	22.561322	23.635151	9	21	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Missense_Mutation	SNP	48657628	48657628	3356	3	C	T	T	27	27	CELSR3	T	1	1
C3orf54	389119	broad.mit.edu	36	3	49817357	49817357	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49817357G>A	uc003cxq.1	+	c.797G>A	c.(796-798)CGC>CAC	p.R266H		NM_203370	NP_976248	Q96EL1	CC054_HUMAN	hypothetical protein LOC389119	264											0														0.358586	197.023254	200.486645	71	127	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Missense_Mutation	SNP	49817357	49817357	2326	3	G	A	A	38	38	C3orf54	A	1	1
GLYCTK	132158	broad.mit.edu	36	3	52300064	52300064	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52300064G>A	uc003ddo.1	+	c.426G>A	c.(424-426)GCG>GCA	p.A142A	GLYCTK_uc003ddm.1_Non-coding_Transcript|GLYCTK_uc003ddn.1_Non-coding_Transcript|GLYCTK_uc003ddp.1_Silent_p.A142A|GLYCTK_uc003ddq.1_Silent_p.A142A|GLYCTK_uc003ddr.1_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	142					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0														0.466667	131.335165	131.422655	42	48	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	Silent	SNP	52300064	52300064	6751	3	G	A	A	39	39	GLYCTK	A	1	1
TNNC1	7134	broad.mit.edu	36	3	52460813	52460813	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52460813G>A	uc003deb.1	-	c.304C>T	c.(304-306)CGC>TGC	p.R102C		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	102	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0					Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)									0.351351	74.433562	75.873208	26	48	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Missense_Mutation	SNP	52460813	52460813	16865	3	G	A	A	39	39	TNNC1	A	1	1
ITIH3	3699	broad.mit.edu	36	3	52808926	52808926	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52808926G>A	uc003dfv.2	+	c.1024G>A	c.(1024-1026)GAG>AAG	p.E342K		NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	342	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3														0.422535	89.938142	90.309802	30	41	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	Missense_Mutation	SNP	52808926	52808926	8209	3	G	A	A	37	37	ITIH3	A	1	1
WNT5A	7474	broad.mit.edu	36	3	55479283	55479283	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:55479283G>A	uc003dhn.1	-	c.1020C>T	c.(1018-1020)TGC>TGT	p.C340C	WNT5A_uc003dhm.1_Silent_p.C325C|WNT5A_uc010hmw.1_Silent_p.C325C|WNT5A_uc010hmx.1_Silent_p.C251C	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	340					activation of JUN kinase activity|activation of protein kinase B activity|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of mesenchymal cell proliferation|neural tube closure|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|promoter binding|receptor tyrosine kinase-like orphan receptor binding|specific transcriptional repressor activity|transcription activator activity				0														0.407767	117.42911	118.194645	42	61	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	Silent	SNP	55479283	55479283	17965	3	G	A	A	38	38	WNT5A	A	1	1
FLNB	2317	broad.mit.edu	36	3	58070063	58070063	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:58070063G>A	uc010hne.1	+	c.2173G>A	c.(2173-2175)GTG>ATG	p.V725M	FLNB_uc003djj.1_Missense_Mutation_p.V725M|FLNB_uc003djk.1_Missense_Mutation_p.V725M|FLNB_uc010hnf.1_Missense_Mutation_p.V725M|FLNB_uc003djl.1_Missense_Mutation_p.V556M|FLNB_uc003djm.1_Missense_Mutation_p.V556M	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B, beta (actin binding protein 278)	725	Filamin 5.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(6)|ovary(3)	9										676				0.5	58.230143	58.230143	19	19	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	Missense_Mutation	SNP	58070063	58070063	6176	3	G	A	A	40	40	FLNB	A	1	1
CADPS	8618	broad.mit.edu	36	3	62611792	62611792	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:62611792G>A	uc003dll.1	-	c.973C>T	c.(973-975)CGC>TGC	p.R325C	CADPS_uc003dlm.1_Missense_Mutation_p.R325C|CADPS_uc003dln.1_Missense_Mutation_p.R325C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	325					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)												0.337017	168.712042	172.968335	61	120	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	Missense_Mutation	SNP	62611792	62611792	2686	3	G	A	A	40	40	CADPS	A	1	1
FRMD4B	23150	broad.mit.edu	36	3	69313520	69313520	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:69313520G>A	uc003dnv.2	-	c.2071C>T	c.(2071-2073)CGG>TGG	p.R691W	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.R343W	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	691						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)												0.285714	35.527743	37.548165	14	35	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	Missense_Mutation	SNP	69313520	69313520	6302	3	G	A	A	38	38	FRMD4B	A	1	1
FOXP1	27086	broad.mit.edu	36	3	71108804	71108804	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:71108804C>T	uc003dol.1	-	c.1508G>A	c.(1507-1509)CGA>CAA	p.R503Q	FOXP1_uc003dom.1_Missense_Mutation_p.R427Q|FOXP1_uc003don.1_Non-coding_Transcript|FOXP1_uc003doo.1_Missense_Mutation_p.R502Q|FOXP1_uc003dop.1_Missense_Mutation_p.R503Q|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.1_Missense_Mutation_p.R403Q|FOXP1_uc003doj.1_Missense_Mutation_p.R403Q|FOXP1_uc003dok.1_Missense_Mutation_p.R316Q|FOXP1_uc003dor.1_Missense_Mutation_p.R280Q	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	503	Fork-head.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)								261				0.476923	191.139657	191.200029	62	68	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	Missense_Mutation	SNP	71108804	71108804	6272	3	C	T	T	31	31	FOXP1	T	1	1
ROBO1	6091	broad.mit.edu	36	3	78820585	78820585	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:78820585C>T	uc003dqe.1	-	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	ROBO1_uc010hoh.1_De_novo_Start_OutOfFrame|ROBO1_uc003dqb.1_Missense_Mutation_p.R319H|ROBO1_uc003dqc.1_Missense_Mutation_p.R322H|ROBO1_uc003dqd.1_Missense_Mutation_p.R322H|ROBO1_uc003dqf.1_Missense_Mutation_p.R37H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	358	Extracellular (Potential).|Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)								693				0.4375	21.022595	21.077078	7	9	CC		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	Missense_Mutation	SNP	78820585	78820585	13992	3	C	T	T	19	19	ROBO1	T	1	1
IL17RE	132014	broad.mit.edu	36	3	9930643	9930643	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9930643C>T	uc003btu.1	+	c.1231C>T	c.(1231-1233)CGG>TGG	p.R411W	CIDEC_uc003bto.1_Intron|IL17RE_uc003btw.1_Missense_Mutation_p.R411W|IL17RE_uc003btx.1_Missense_Mutation_p.R295W|IL17RE_uc010hcq.1_Missense_Mutation_p.R411W|IL17RE_uc003bty.1_Non-coding_Transcript	NM_153483	NP_705614	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	411	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1														0.333333	170.693821	174.97342	58	116	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	Missense_Mutation	SNP	9930643	9930643	7944	3	C	T	T	23	23	IL17RE	T	1	1
IL17RE	132014	broad.mit.edu	36	3	9931450	9931450	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9931450G>A	uc003btu.1	+	c.1436G>A	c.(1435-1437)CGC>CAC	p.R479H	CIDEC_uc003bto.1_Intron|IL17RE_uc003btw.1_Missense_Mutation_p.R479H|IL17RE_uc003btx.1_Missense_Mutation_p.R363H|IL17RE_uc010hcq.1_Silent_p.A503A|IL17RE_uc003bty.1_Non-coding_Transcript|IL17RC_uc010hcr.1_5'Flank|IL17RC_uc010hcs.1_5'Flank|IL17RC_uc003btz.1_5'Flank|IL17RC_uc003bud.1_5'Flank|IL17RC_uc003bua.1_5'Flank|IL17RC_uc003bub.1_5'Flank|IL17RC_uc010hct.1_5'Flank|IL17RC_uc010hcu.1_5'Flank|IL17RC_uc010hcv.1_5'Flank|IL17RC_uc003buc.1_5'Flank	NM_153483	NP_705614	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	479	Cytoplasmic (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1														0.333333	91.128037	93.692247	35	70	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	Missense_Mutation	SNP	9931450	9931450	7944	3	G	A	A	38	38	IL17RE	A	1	1
ANK2	287	broad.mit.edu	36	4	114486615	114486615	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114486615G>A	uc003ibe.2	+	c.4359G>A	c.(4357-4359)CCG>CCA	p.P1453P	ANK2_uc003ibd.2_Silent_p.P1444P|ANK2_uc003ibf.2_Silent_p.P1453P|ANK2_uc003ibg.2_Silent_p.P448P|ANK2_uc003ibh.2_Silent_p.P127P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1420					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)												0.395833	170.644179	172.011743	57	87	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	Silent	SNP	114486615	114486615	624	4	G	A	A	37	37	ANK2	A	1	1
PRSS12	8492	broad.mit.edu	36	4	119423593	119423593	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:119423593C>T	uc003ica.1	-	c.2161G>A	c.(2161-2163)GAC>AAC	p.D721N		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	721	Peptidase S1.					membrane	scavenger receptor activity				0														0.368794	306.458175	310.712167	104	178	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119423593	119423593	13065	4	C	T	T	31	31	PRSS12	T	1	1
SYNPO2	171024	broad.mit.edu	36	4	120170614	120170614	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:120170614C>T	uc010inb.1	+	c.1236C>T	c.(1234-1236)TAC>TAT	p.Y412Y	SYNPO2_uc010ina.1_Silent_p.Y412Y|SYNPO2_uc003icm.2_Silent_p.Y412Y|SYNPO2_uc010inc.1_Silent_p.Y340Y	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	412						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.393443	213.366922	215.183698	72	111	CC		KEEP	---	---	---	---	capture			Silent	SNP	120170614	120170614	15978	4	C	T	T	19	19	SYNPO2	T	1	1
PRDM5	11107	broad.mit.edu	36	4	121957512	121957512	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:121957512G>A	uc003idn.1	-	c.668C>T	c.(667-669)GCG>GTG	p.A223V	PRDM5_uc003ido.1_Intron|PRDM5_uc010ine.1_Intron|PRDM5_uc010inf.1_Intron	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	223					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	promoter binding|repressing transcription factor binding|specific transcriptional repressor activity|zinc ion binding			central_nervous_system(1)|pancreas(1)	2														0.434959	314.082768	314.990985	107	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121957512	121957512	12902	4	G	A	A	38	38	PRDM5	A	1	1
QRFPR	84109	broad.mit.edu	36	4	122471050	122471050	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:122471050G>A	uc010inj.1	-	c.876C>T	c.(874-876)GTC>GTT	p.V292V	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.P255S	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	292	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity				0														0.28	37.727817	39.904125	14	36	GG		KEEP	---	---	---	---	capture			Silent	SNP	122471050	122471050	13336	4	G	A	A	41	41	QRFPR	A	2	2
PHF17	79960	broad.mit.edu	36	4	129996375	129996375	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:129996375C>T	uc003igk.1	+	c.837C>T	c.(835-837)CAC>CAT	p.H279H	PHF17_uc003igj.1_Silent_p.H279H|PHF17_uc003igl.1_Silent_p.H267H|PHF17_uc003igm.1_Silent_p.H279H	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	279					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0														0.428571	98.165353	98.507148	33	44	CC		KEEP	---	---	---	---	capture			Silent	SNP	129996375	129996375	12251	4	C	T	T	19	19	PHF17	T	1	1
KIAA1530	57654	broad.mit.edu	36	4	1333527	1333527	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1333527C>T	uc003gde.2	+	c.314C>T	c.(313-315)GCG>GTG	p.A105V		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	105											0														0.344262	52.651174	53.96013	21	40	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		Missense_Mutation	SNP	1333527	1333527	8550	4	C	T	T	27	27	KIAA1530	T	1	1
SETD7	80854	broad.mit.edu	36	4	140660897	140660897	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:140660897C>T	uc003ihw.1	-	c.746G>A	c.(745-747)CGA>CAA	p.R249Q		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	SET domain-containing protein 7	249	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.156)													0.383648	180.440996	182.327019	61	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140660897	140660897	14625	4	C	T	T	31	31	SETD7	T	1	1
ABCE1	6059	broad.mit.edu	36	4	146248631	146248631	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:146248631C>T	uc003ijx.1	+	c.204C>T	c.(202-204)GGC>GGT	p.G68G	ABCE1_uc003ijy.1_Silent_p.G68G|ABCE1_uc010iot.1_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	68	4Fe-4S ferredoxin-type 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity				0	all_hematologic(180;0.151)													0.304878	65.441373	68.228145	25	57	CC		KEEP	---	---	---	---	capture			Silent	SNP	146248631	146248631	65	4	C	T	T	27	27	ABCE1	T	1	1
TRIM2	23321	broad.mit.edu	36	4	154436082	154436082	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:154436082G>A	uc003ing.1	+	c.873G>A	c.(871-873)TTG>TTA	p.L291L	TRIM2_uc003inh.1_Silent_p.L291L	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 1	291						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)												0.446154	82.662878	82.827602	29	36	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	Silent	SNP	154436082	154436082	17038	4	G	A	A	46	46	TRIM2	A	2	2
DCHS2	54798	broad.mit.edu	36	4	155461684	155461684	+	Silent	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155461684T>C	uc003inw.1	-	c.2952A>G	c.(2950-2952)TTA>TTG	p.L984L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	984	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)												0.310811	148.002656	152.716575	46	102	TT		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(193;0.107)	Silent	SNP	155461684	155461684	4459	4	T	C	C	57	57	DCHS2	C	4	4
TDO2	6999	broad.mit.edu	36	4	157056465	157056465	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:157056465C>T	uc003ipf.1	+	c.847C>T	c.(847-849)CGG>TGG	p.R283W		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	283					oxidation-reduction process|tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)			L-Tryptophan(DB00150)	Colon(57;928 1036 2595 6946 26094)								0.2625	52.735616	56.819794	21	59	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	Missense_Mutation	SNP	157056465	157056465	16253	4	C	T	T	19	19	TDO2	T	1	1
RAPGEF2	9693	broad.mit.edu	36	4	160479044	160479044	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:160479044G>A	uc003iqg.2	+	c.1784G>A	c.(1783-1785)CGC>CAC	p.R595H		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	595					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			upper_aerodigestive_tract(1)|skin(1)	2	all_hematologic(180;0.24)									322				0.42233	257.283349	258.369183	87	119	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(41;0.0817)	Missense_Mutation	SNP	160479044	160479044	13504	4	G	A	A	38	38	RAPGEF2	A	1	1
TLL1	7092	broad.mit.edu	36	4	167155087	167155087	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:167155087C>T	uc003irh.1	+	c.967C>T	c.(967-969)CGT>TGT	p.R323C		NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1	323	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)												0.304582	304.237333	316.876687	113	258	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.103)	Missense_Mutation	SNP	167155087	167155087	16475	4	C	T	T	19	19	TLL1	T	1	1
TACC3	10460	broad.mit.edu	36	4	1716243	1716243	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1716243C>T	uc003gdo.1	+	c.2337C>T	c.(2335-2337)AAC>AAT	p.N779N	TACC3_uc003gdp.1_Silent_p.N419N|TACC3_uc010ica.1_Silent_p.N200N	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	779	Potential.					centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)				Ovarian(120;482 2294 11894 35824)				480				0.527778	58.925633	58.949765	19	17	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		Silent	SNP	1716243	1716243	16024	4	C	T	T	19	19	TACC3	T	1	1
ODZ3	55714	broad.mit.edu	36	4	183958131	183958131	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:183958131C>T	uc003ivd.1	+	c.7733C>T	c.(7732-7734)ACG>ATG	p.T2578M		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2578	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)												0.333333	9.795515	10.090965	4	8	CC		KEEP	---	---	---	---	capture		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	Missense_Mutation	SNP	183958131	183958131	11241	4	C	T	T	19	19	ODZ3	T	1	1
PDLIM3	27295	broad.mit.edu	36	4	186660494	186660494	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:186660494C>T	uc003ixw.2	-	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	PDLIM3_uc003ixx.2_Missense_Mutation_p.R300H|PDLIM3_uc010isi.1_Non-coding_Transcript	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	348	LIM zinc-binding.					sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)												0.341317	160.327495	164.042012	57	110	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	Missense_Mutation	SNP	186660494	186660494	12102	4	C	T	T	27	27	PDLIM3	T	1	1
TRIML1	339976	broad.mit.edu	36	4	189297915	189297915	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189297915G>A	uc003izm.1	+	c.209G>A	c.(208-210)CGT>CAT	p.R70H		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	70					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)				Melanoma(31;213 1036 16579 23968 32372)								0.335526	130.971441	134.612802	51	101	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	Missense_Mutation	SNP	189297915	189297915	17100	4	G	A	A	40	40	TRIML1	A	1	1
SLIT2	9353	broad.mit.edu	36	4	20209044	20209044	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:20209044C>T	uc003gpr.1	+	c.3620C>T	c.(3619-3621)GCG>GTG	p.A1207V	SLIT2_uc003gps.1_Missense_Mutation_p.A1199V	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2	1207	Laminin G-like.				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														0.4	214.014033	215.631176	74	111	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20209044	20209044	15238	4	C	T	T	27	27	SLIT2	T	1	1
FAM193A	8603	broad.mit.edu	36	4	2661112	2661112	+	Missense_Mutation	SNP	A	T	T			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2661112A>T	uc010icl.1	+	c.1540A>T	c.(1540-1542)AGC>TGC	p.S514C	FAM193A_uc010ick.1_Missense_Mutation_p.S514C|FAM193A_uc003gfd.1_Missense_Mutation_p.S514C|FAM193A_uc010icm.1_Non-coding_Transcript|FAM193A_uc003gfe.1_Missense_Mutation_p.S368C	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	514										ovary(3)	3														0.44	160.397489	160.79104	55	70	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2661112	2661112	5735	4	A	T	T	11	11	FAM193A	T	4	4
TNIP2	79155	broad.mit.edu	36	4	2716422	2716422	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:2716422C>T	uc003gfg.1	-	c.706G>A	c.(706-708)GAA>AAA	p.E236K	TNIP2_uc003gff.1_Missense_Mutation_p.E129K|TNIP2_uc003gfh.1_Intron	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	236						cytosol	protein binding			central_nervous_system(1)	1														0.375	103.082303	104.39671	36	60	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Missense_Mutation	SNP	2716422	2716422	16856	4	C	T	T	31	31	TNIP2	T	1	1
RGS12	6002	broad.mit.edu	36	4	3287724	3287724	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3287724G>A	uc003ggw.1	+	c.29G>A	c.(28-30)CGC>CAC	p.R10H	RGS12_uc003ggu.2_Missense_Mutation_p.R10H|RGS12_uc010ics.1_Intron|RGS12_uc003ggv.1_Missense_Mutation_p.R10H|RGS12_uc003ggx.1_Missense_Mutation_p.R10H	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	10						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1														0.326087	161.63858	166.574874	60	124	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	Missense_Mutation	SNP	3287724	3287724	13769	4	G	A	A	38	38	RGS12	A	1	1
TBC1D1	23216	broad.mit.edu	36	4	37692825	37692825	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:37692825G>A	uc003gtb.1	+	c.718G>A	c.(718-720)GGC>AGC	p.G240S	TBC1D1_uc010ifd.1_Intron	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	240						nucleus	Rab GTPase activator activity			ovary(1)	1														0.342857	32.792409	33.554497	12	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37692825	37692825	16119	4	G	A	A	39	39	TBC1D1	A	1	1
GABRB1	2560	broad.mit.edu	36	4	46728746	46728746	+	Nonsense_Mutation	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:46728746G>T	uc003gxh.1	+	c.139G>T	c.(139-141)GGA>TGA	p.G47*	GABRB1_uc010igg.1_Non-coding_Transcript	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	47	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.383562	324.322964	327.796948	112	180	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	46728746	46728746	6417	4	G	T	T	35	35	GABRB1	T	5	3
EVC2	132884	broad.mit.edu	36	4	5675514	5675514	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:5675514C>T	uc003gij.1	-	c.2152G>A	c.(2152-2154)GGT>AGT	p.G718S	EVC2_uc003gik.1_Missense_Mutation_p.G638S	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	718	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5														0.36036	114.117055	116.002078	40	71	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5675514	5675514	5479	4	C	T	T	23	23	EVC2	T	1	1
EVC2	132884	broad.mit.edu	36	4	5693156	5693156	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:5693156G>A	uc003gij.1	-	c.1456C>T	c.(1456-1458)CGT>TGT	p.R486C	EVC2_uc003gik.1_Missense_Mutation_p.R406C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	486	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5														0.328647	521.748852	536.552386	187	382	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5693156	5693156	5479	4	G	A	A	40	40	EVC2	A	1	1
IGFBP7	3490	broad.mit.edu	36	4	57594183	57594183	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:57594183G>A	uc003hcn.1	-	c.637C>T	c.(637-639)CGG>TGG	p.R213W		NM_001553	NP_001544	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	213	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)	1	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.263636	76.827492	82.383089	29	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	57594183	57594183	7885	4	G	A	A	39	39	IGFBP7	A	1	1
PDE6B	5158	broad.mit.edu	36	4	609588	609588	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:609588C>T	uc003gap.1	+	c.173C>T	c.(172-174)GCG>GTG	p.A58V	PDE6B_uc003gao.2_Missense_Mutation_p.A58V	NM_000283	NP_000274	P35913	PDE6B_HUMAN	rod cGMP-phosphodiesterase beta-subunit isoform	58					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GBM(71;463 1194 9848 25922 46834)								0.327586	52.216338	53.739634	19	39	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	609588	609588	12067	4	C	T	T	27	27	PDE6B	T	1	1
JAKMIP1	152789	broad.mit.edu	36	4	6132918	6132918	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:6132918G>A	uc010idb.1	-	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V	JAKMIP1_uc010idc.1_Missense_Mutation_p.A210V|JAKMIP1_uc010idd.1_Missense_Mutation_p.A375V|JAKMIP1_uc003giu.2_Missense_Mutation_p.A375V|JAKMIP1_uc003giv.2_Missense_Mutation_p.A375V|JAKMIP1_uc010ide.1_Missense_Mutation_p.A375V	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	375	Mediates interaction with TYK2 and GABBR1.|Potential.		A -> V (in a colorectal cancer sample; somatic mutation).		protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.A375V(1)		large_intestine(1)|ovary(1)|pancreas(1)	3														0.311475	51.218845	53.140672	19	42	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6132918	6132918	8244	4	G	A	A	38	38	JAKMIP1	A	1	1
PPP2R2C	5522	broad.mit.edu	36	4	6428512	6428512	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:6428512C>T	uc003gja.1	-	c.382G>A	c.(382-384)GAA>AAA	p.E128K	PPP2R2C_uc003gjb.1_Missense_Mutation_p.E111K|PPP2R2C_uc003gjc.1_Missense_Mutation_p.E128K|PPP2R2C_uc003gjd.1_Missense_Mutation_p.E216K	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	128	WD 2.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3														0.407843	315.760873	317.650433	104	151	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6428512	6428512	12822	4	C	T	T	31	31	PPP2R2C	T	1	1
MYL5	4636	broad.mit.edu	36	4	662771	662771	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:662771C>T	uc003gav.1	+	c.136C>T	c.(136-138)CGA>TGA	p.R46*	MYL5_uc003gat.1_Non-coding_Transcript|MYL5_uc003gau.1_Non-coding_Transcript	NM_002477	NP_002468	Q02045	MYL5_HUMAN	myosin regulatory light chain 5	46	By similarity.|EF-hand 1.				regulation of muscle contraction	muscle myosin complex	calcium ion binding|motor activity|structural constituent of muscle				0														0.286822	102.926095	108.182302	37	92	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	662771	662771	10445	4	C	T	T	23	23	MYL5	T	5	1
KIAA0232	9778	broad.mit.edu	36	4	6914701	6914701	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:6914701G>A	uc003gjr.2	+	c.1691G>A	c.(1690-1692)CGT>CAT	p.R564H	KIAA0232_uc003gjq.2_Missense_Mutation_p.R564H	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	564							ATP binding			ovary(2)	2														0.416268	259.48928	260.767426	87	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6914701	6914701	8470	4	G	A	A	40	40	KIAA0232	A	1	1
ADAMTS3	9508	broad.mit.edu	36	4	73367977	73367977	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:73367977G>A	uc003hgk.1	-	c.3358C>T	c.(3358-3360)CCA>TCA	p.P1120S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1120					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2						NSCLC(168;1941 2048 2918 13048 43078)								0.383117	170.031241	171.860063	59	95	GG		KEEP	---	---	---	---	capture	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	73367977	73367977	268	4	G	A	A	42	42	ADAMTS3	A	2	2
ADAMTS3	9508	broad.mit.edu	36	4	73633165	73633165	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:73633165G>A	uc003hgk.1	-	c.398C>T	c.(397-399)ACG>ATG	p.T133M		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	133					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2						NSCLC(168;1941 2048 2918 13048 43078)								0.397887	337.017863	339.60797	113	171	GG		KEEP	---	---	---	---	capture	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	73633165	73633165	268	4	G	A	A	40	40	ADAMTS3	A	1	1
SORCS2	57537	broad.mit.edu	36	4	7735453	7735453	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:7735453C>T	uc003gkb.2	+	c.1425C>T	c.(1423-1425)CGC>CGT	p.R475R		NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2	475	BNR 4.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2														0.30303	27.038092	28.180525	10	23	CC		KEEP	---	---	---	---	capture			Silent	SNP	7735453	7735453	15431	4	C	T	T	27	27	SORCS2	T	1	1
PRKG2	5593	broad.mit.edu	36	4	82314970	82314970	+	Splice_Site_SNP	SNP	C	A	A			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:82314970C>A	uc003hmh.1	-	c.628_splice	c.e2+1	p.E210_splice		NM_006259	NP_006250			protein kinase, cGMP-dependent, type II						platelet activation|protein phosphorylation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7										728				0.292398	148.582634	155.18095	50	121	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	82314970	82314970	12966	4	C	A	A	18	18	PRKG2	A	5	3
HTRA3	94031	broad.mit.edu	36	4	8344959	8344959	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8344959C>T	uc003gla.1	+	c.915C>T	c.(913-915)TCC>TCT	p.S305S	HTRA3_uc003gkz.2_Silent_p.S305S	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	305	Serine protease.	Charge relay system (Potential).			proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1														0.293478	71.0975	74.608168	27	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	8344959	8344959	7755	4	C	T	T	23	23	HTRA3	T	1	1
CPZ	8532	broad.mit.edu	36	4	8671062	8671062	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8671062C>T	uc003glm.1	+	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	CPZ_uc003gll.1_Non-coding_Transcript|CPZ_uc003glo.1_Missense_Mutation_p.R493W|CPZ_uc003gln.1_Missense_Mutation_p.R367W|CPZ_uc003glp.1_Non-coding_Transcript	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	504					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.408163	63.30672	63.662993	20	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8671062	8671062	3978	4	C	T	T	23	23	CPZ	T	1	1
NAP1L5	266812	broad.mit.edu	36	4	89837789	89837789	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:89837789G>A	uc003hrx.1	-	c.140C>T	c.(139-141)GCG>GTG	p.A47V	HERC3_uc003hrw.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	47					nucleosome assembly	nucleus	protein binding				0														0.38843	121.078462	122.403212	47	74	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	Missense_Mutation	SNP	89837789	89837789	10556	4	G	A	A	38	38	NAP1L5	A	1	1
MMRN1	22915	broad.mit.edu	36	4	91091806	91091806	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:91091806C>T	uc003hst.1	+	c.3146C>T	c.(3145-3147)CCG>CTG	p.P1049L	MMRN1_uc010iku.1_Missense_Mutation_p.P352L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1049	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)												0.320755	99.313008	102.338111	34	72	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	Missense_Mutation	SNP	91091806	91091806	10061	4	C	T	T	23	23	MMRN1	T	1	1
UNC5C	8633	broad.mit.edu	36	4	96382655	96382655	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:96382655G>A	uc003htp.1	-	c.1056C>T	c.(1054-1056)TGC>TGT	p.C352C	UNC5C_uc010ilc.1_Silent_p.C352C|UNC5C_uc003htq.1_Silent_p.C352C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C	352	Extracellular (Potential).|TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)												0.352941	48.93406	49.906923	18	33	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	Silent	SNP	96382655	96382655	17551	4	G	A	A	38	38	UNC5C	A	1	1
ST8SIA4	7903	broad.mit.edu	36	5	100250189	100250189	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:100250189C>T	uc003knk.1	-	c.260G>A	c.(259-261)CGT>CAT	p.R87H	ST8SIA4_uc003knl.1_Missense_Mutation_p.R87H	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	87	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)												0.313131	84.192427	87.267681	31	68	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.00402)	Missense_Mutation	SNP	100250189	100250189	15752	5	C	T	T	19	19	ST8SIA4	T	1	1
SLCO6A1	133482	broad.mit.edu	36	5	101763158	101763158	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:101763158C>T	uc003knn.2	-	c.1814G>A	c.(1813-1815)CGG>CAG	p.R605Q	SLCO6A1_uc003kno.2_Missense_Mutation_p.R352Q|SLCO6A1_uc003knp.1_Missense_Mutation_p.R605Q|SLCO6A1_uc003knq.1_Missense_Mutation_p.R543Q	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	605	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)												0.383333	72.211345	72.927321	23	37	CC		KEEP	---	---	---	---	capture		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	Missense_Mutation	SNP	101763158	101763158	15229	5	C	T	T	23	23	SLCO6A1	T	1	1
MARCH6	10299	broad.mit.edu	36	5	10470404	10470404	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:10470404C>T	uc003jet.1	+	c.2171C>T	c.(2170-2172)GCG>GTG	p.A724V	MARCH6_uc003jeu.1_Missense_Mutation_p.A422V	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	724	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding				0														0.19256	186.945353	227.275015	88	369	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10470404	10470404	9688	5	C	T	T	27	27	MARCH6	T	1	1
NKD2	85409	broad.mit.edu	36	5	1087387	1087387	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1087387G>A	uc003jbt.1	+	c.368G>A	c.(367-369)CGC>CAC	p.R123H	NKD2_uc010itf.1_Missense_Mutation_p.R123H	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	naked cuticle homolog 2	123	Targeting to the basolateral cell membrane.|EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding				0	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)									126				0.242424	19.286791	21.281098	8	25	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		Missense_Mutation	SNP	1087387	1087387	10843	5	G	A	A	38	38	NKD2	A	1	1
APC	324	broad.mit.edu	36	5	112202701	112202701	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:112202701C>T	uc010jby.1	+	c.3511C>T	c.(3511-3513)CGT>TGT	p.R1171C	APC_uc003kpz.2_Missense_Mutation_p.R1171C|APC_uc003kpy.2_Missense_Mutation_p.R1171C|APC_uc010jbz.1_Missense_Mutation_p.R888C|APC_uc010jca.1_Missense_Mutation_p.R471C	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1171	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.		R -> C (in FAP; could be a polymorphism).|R -> H (in gastric cancer).		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)				NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12	p.R1171C(CALU1-Tumor)|p.R1171C(PFEIFFER-Tumor)	629	TSP Lung(16;0.13)			0.27193	77.17113	82.520822	31	83	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	Missense_Mutation	SNP	112202701	112202701	773	5	C	T	T	19	19	APC	T	1	1
SLC12A7	10723	broad.mit.edu	36	5	1126885	1126885	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1126885C>T	uc003jbu.1	-	c.2104G>A	c.(2104-2106)GCG>ACG	p.A702T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	702					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			large_intestine(1)	1	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)				Potassium Chloride(DB00761)									0.242424	73.6481	81.626639	32	100	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Missense_Mutation	SNP	1126885	1126885	14883	5	C	T	T	27	27	SLC12A7	T	1	1
GRAMD3	65983	broad.mit.edu	36	5	125835875	125835875	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:125835875C>T	uc003ktu.1	+	c.362C>T	c.(361-363)ACG>ATG	p.T121M		NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	121	GRAM.									central_nervous_system(1)	1		Prostate(80;0.0928)												0.331606	179.637237	184.484977	64	129	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	Missense_Mutation	SNP	125835875	125835875	7027	5	C	T	T	19	19	GRAMD3	T	1	1
FBN2	2201	broad.mit.edu	36	5	127708963	127708963	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127708963G>A	uc003kuu.1	-	c.3202C>T	c.(3202-3204)CGG>TGG	p.R1068W	FBN2_uc003kuv.1_Missense_Mutation_p.R69W	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1068					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)								1552				0.370166	190.231146	192.890271	67	114	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	Missense_Mutation	SNP	127708963	127708963	5939	5	G	A	A	38	38	FBN2	A	1	1
CDC42SE2	56990	broad.mit.edu	36	5	130749141	130749141	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:130749141C>T	uc003kvh.2	+	c.61C>T	c.(61-63)CGA>TGA	p.R21*	CDC42SE2_uc003kvi.1_Nonsense_Mutation_p.R21*|CDC42SE2_uc003kvj.1_Nonsense_Mutation_p.R21*|CDC42SE2_uc003kvk.1_Non-coding_Transcript|CDC42SE2_uc003kvl.1_Nonsense_Mutation_p.R21*	NM_020240	NP_064625	Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	21	Poly-Arg.				phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity				0		all_cancers(142;0.0525)|Breast(839;0.198)												0.26506	53.110019	57.252689	22	61	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Nonsense_Mutation	SNP	130749141	130749141	3209	5	C	T	T	27	27	CDC42SE2	T	5	1
FNIP1	96459	broad.mit.edu	36	5	131042736	131042736	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131042736G>A	uc003kvs.1	-	c.1234C>T	c.(1234-1236)CGA>TGA	p.R412*	RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Nonsense_Mutation_p.R384*|FNIP1_uc010jdm.1_Nonsense_Mutation_p.R367*|FNIP1_uc003kvu.2_Nonsense_Mutation_p.R412*	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1 isoform 1	412					regulation of protein phosphorylation	cytoplasm	protein binding			pancreas(1)	1		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)												0.297297	58.920471	61.639452	22	52	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	Nonsense_Mutation	SNP	131042736	131042736	6217	5	G	A	A	40	40	FNIP1	A	5	1
FSTL4	23105	broad.mit.edu	36	5	132562993	132562993	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132562993C>T	uc003kyn.1	-	c.2222G>A	c.(2221-2223)CGC>CAC	p.R741H	FSTL4_uc003kym.1_Missense_Mutation_p.R390H	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	741						extracellular region	calcium ion binding			central_nervous_system(1)	1		all_cancers(142;0.244)												0.291139	57.287633	60.378705	23	56	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	132562993	132562993	6330	5	C	T	T	27	27	FSTL4	T	1	1
PHF15	23338	broad.mit.edu	36	5	133942501	133942501	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:133942501G>A	uc003kzk.2	+	c.2148G>A	c.(2146-2148)CCG>CCA	p.P716P	PHF15_uc003kzm.2_Silent_p.P657P|PHF15_uc003kzn.2_3'UTR|PHF15_uc003kzo.1_Silent_p.P656P	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	656	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0														0.309942	141.52335	147.019952	53	118	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Silent	SNP	133942501	133942501	12249	5	G	A	A	40	40	PHF15	A	1	1
TERT	7015	broad.mit.edu	36	5	1347138	1347138	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1347138G>A	uc003jcb.1	-	c.863C>T	c.(862-864)GCG>GTG	p.A288V	TERT_uc003jca.1_Missense_Mutation_p.A288V|TERT_uc003jcc.1_Missense_Mutation_p.A288V|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	288	Linker.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase	cytoplasm|nuclear telomere cap complex|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(6)|central_nervous_system(2)|ovary(1)|skin(1)	10	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)									563				0.272727	7.859318	8.34715	3	8	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Missense_Mutation	SNP	1347138	1347138	16291	5	G	A	A	38	38	TERT	A	1	1
CLPTM1L	81037	broad.mit.edu	36	5	1371520	1371520	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1371520G>A	uc003jch.1	-	c.1581C>T	c.(1579-1581)TAC>TAT	p.Y527Y	CLPTM1L_uc003jcg.1_Silent_p.Y358Y	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	527	Cytoplasmic (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)									276				0.233333	67.94627	75.751878	28	92	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	Silent	SNP	1371520	1371520	3693	5	G	A	A	40	40	CLPTM1L	A	1	1
PKD2L2	27039	broad.mit.edu	36	5	137263165	137263165	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137263165C>T	uc003lby.2	+	c.586C>T	c.(586-588)CGA>TGA	p.R196*	PKD2L2_uc010jep.1_Nonsense_Mutation_p.R136*|PKD2L2_uc003lbw.1_Nonsense_Mutation_p.R196*|PKD2L2_uc003lbx.2_Nonsense_Mutation_p.R196*	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	196	Extracellular (Potential).					integral to membrane	calcium ion binding|ion channel activity				0														0.335404	162.701754	166.560413	54	107	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		Nonsense_Mutation	SNP	137263165	137263165	12393	5	C	T	T	23	23	PKD2L2	T	5	1
DNAH5	1767	broad.mit.edu	36	5	13772110	13772110	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13772110C>T	uc003jfd.2	-	c.12380G>A	c.(12379-12381)CGC>CAC	p.R4127H	DNAH5_uc003jfc.2_Missense_Mutation_p.R295H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4127	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.195	78.787329	96.171587	39	161	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13772110	13772110	4787	5	C	T	T	27	27	DNAH5	T	1	1
DNAH5	1767	broad.mit.edu	36	5	13972420	13972420	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13972420G>A	uc003jfd.2	-	c.840C>T	c.(838-840)GAC>GAT	p.D280D	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	280	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.275294	294.696923	314.01914	117	308	GG		KEEP	---	---	---	---	capture			Silent	SNP	13972420	13972420	4787	5	G	A	A	40	40	DNAH5	A	1	1
CD14	929	broad.mit.edu	36	5	139991772	139991772	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139991772G>A	uc003lgi.1	-	c.981C>T	c.(979-981)GAC>GAT	p.D327D	CD14_uc003lgj.1_Silent_p.D327D	NM_000591	NP_001035110	P08571	CD14_HUMAN	CD14 antigen precursor	327	LRR 11.				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity				0														0.376623	78.952238	79.982189	29	48	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	139991772	139991772	3091	5	G	A	A	40	40	CD14	A	1	1
CD14	929	broad.mit.edu	36	5	139991960	139991960	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:139991960C>T	uc003lgi.1	-	c.793G>A	c.(793-795)GTA>ATA	p.V265I	CD14_uc003lgj.1_Missense_Mutation_p.V265I	NM_000591	NP_001035110	P08571	CD14_HUMAN	CD14 antigen precursor	265	LRR 8.				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity				0														0.36	74.004148	75.298236	27	48	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	139991960	139991960	3091	5	C	T	T	19	19	CD14	T	1	1
PCDHA9	9752	broad.mit.edu	36	5	140209874	140209874	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140209874C>T	uc003lhu.1	+	c.1610C>T	c.(1609-1611)GCG>GTG	p.A537V	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A537V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)	4						Melanoma(55;1800 1972 14909)								0.378205	154.707203	156.728565	59	97	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140209874	140209874	11951	5	C	T	T	27	27	PCDHA9	T	1	1
PCDHA12	56137	broad.mit.edu	36	5	140236343	140236343	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140236343G>A	uc003lic.1	+	c.1102G>A	c.(1102-1104)GTC>ATC	p.V368I	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lib.1_Missense_Mutation_p.V368I	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	368	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0						Pancreas(113;759 1672 13322 24104 50104)								0.375	125.757778	127.398546	45	75	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140236343	140236343	11942	5	G	A	A	40	40	PCDHA12	A	1	1
PCDHB3	56132	broad.mit.edu	36	5	140462126	140462126	+	Missense_Mutation	SNP	C	T	T	rs17844589	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140462126C>T	uc003lio.1	+	c.1709C>T	c.(1708-1710)GCG>GTG	p.A570V		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	570	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2														0.411765	94.625481	95.19761	35	50	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140462126	140462126	11963	5	C	T	T	27	27	PCDHB3	T	1	1
PCDHB4	56131	broad.mit.edu	36	5	140483160	140483160	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140483160G>A	uc003lip.1	+	c.1396G>A	c.(1396-1398)GCC>ACC	p.A466T		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	466	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			ovary(1)	1														0.318681	142.461806	147.793601	58	124	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140483160	140483160	11964	5	G	A	A	38	38	PCDHB4	A	1	1
PCDHB9	56127	broad.mit.edu	36	5	140549109	140549109	+	Silent	SNP	G	A	A	rs17844541	unknown	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140549109G>A	uc003liw.1	+	c.2034G>A	c.(2032-2034)CCG>CCA	p.P678P		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	678	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0														0.201133	159.802469	189.001068	71	282	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140549109	140549109	11969	5	G	A	A	39	39	PCDHB9	A	1	1
PCDHB10	56126	broad.mit.edu	36	5	140554343	140554343	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140554343G>A	uc003lix.1	+	c.2034G>A	c.(2032-2034)CCG>CCA	p.P678P		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	678	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.478261	32.524044	32.533419	11	12	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140554343	140554343	11955	5	G	A	A	39	39	PCDHB10	A	1	1
PCDHGA1	56114	broad.mit.edu	36	5	140692648	140692648	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140692648C>T	uc003lji.1	+	c.2213C>T	c.(2212-2214)TCG>TTG	p.S738L	PCDHGA1_uc003ljh.1_Missense_Mutation_p.S738L	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	738	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3														0.293578	82.367391	86.519058	32	77	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140692648	140692648	11970	5	C	T	T	31	31	PCDHGA1	T	1	1
PCDHGA11	56105	broad.mit.edu	36	5	140783134	140783134	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140783134G>A	uc003lkq.1	+	c.2156G>A	c.(2155-2157)CGC>CAC	p.R719H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R719H|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc003lkr.1_5'Flank	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	719	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.444444	102.79852	103.013676	36	45	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140783134	140783134	11972	5	G	A	A	38	38	PCDHGA11	A	1	1
HDAC3	8841	broad.mit.edu	36	5	140986028	140986028	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140986028G>A	uc003llf.2	-	c.837C>T	c.(835-837)TGC>TGT	p.C279C	HDAC3_uc003lle.1_Silent_p.C222C	NM_003883	NP_003874	O15379	HDAC3_HUMAN	histone deacetylase 3	279	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of JNK cascade|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding|transcription repressor activity			ovary(1)	1					Vorinostat(DB02546)				p.C222C(GP2D-Tumor)	122				0.340426	44.087012	45.144191	16	31	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140986028	140986028	7291	5	G	A	A	38	38	HDAC3	A	1	1
KIAA0141	9812	broad.mit.edu	36	5	141284339	141284339	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141284339G>A	uc003lls.1	+	c.41G>A	c.(40-42)CGT>CAT	p.R14H	KIAA0141_uc003llt.1_Missense_Mutation_p.R14H	NM_014773	NP_055588	Q14154	K0141_HUMAN	hypothetical protein LOC9812	14						mitochondrion	binding				0		all_hematologic(541;0.118)												0.268421	127.054615	136.244385	51	139	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	141284339	141284339	8463	5	G	A	A	40	40	KIAA0141	A	1	1
TRIO	7204	broad.mit.edu	36	5	14427421	14427421	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:14427421G>A	uc003jff.1	+	c.3300G>A	c.(3298-3300)ACG>ACA	p.T1100T	TRIO_uc003jfg.1_Non-coding_Transcript|TRIO_uc003jfh.1_Silent_p.T749T	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1100					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.322034	51.803115	53.463186	19	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	14427421	14427421	17102	5	G	A	A	38	38	TRIO	A	1	1
TRIO	7204	broad.mit.edu	36	5	14555690	14555690	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:14555690C>T	uc003jff.1	+	c.8335C>T	c.(8335-8337)CCA>TCA	p.P2779S	TRIO_uc003jfg.1_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2779					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.271605	114.522504	122.146288	44	118	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14555690	14555690	17102	5	C	T	T	30	30	TRIO	T	2	2
ARSI	340075	broad.mit.edu	36	5	149657740	149657740	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:149657740G>A	uc003lrv.2	-	c.940C>T	c.(940-942)CGC>TGC	p.R314C		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	314						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2														0.378378	76.123848	77.067859	28	46	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	149657740	149657740	1012	5	G	A	A	40	40	ARSI	A	1	1
CCDC69	26112	broad.mit.edu	36	5	150545236	150545236	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150545236G>A	uc003ltq.1	-	c.555C>T	c.(553-555)ATC>ATT	p.I185I	CCDC69_uc010jht.1_5'Flank|CCDC69_uc003ltp.1_5'UTR|CCDC69_uc010jhu.1_Silent_p.I38I	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	185	Potential.									ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)												0.369478	269.342954	273.067728	92	157	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Silent	SNP	150545236	150545236	2964	5	G	A	A	37	37	CCDC69	A	1	1
FAT2	2196	broad.mit.edu	36	5	150881802	150881802	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150881802C>T	uc003lue.2	-	c.10545G>A	c.(10543-10545)ACG>ACA	p.T3515T	FAT2_uc003lud.2_Silent_p.T208T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3515	Extracellular (Potential).|Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.395833	54.215451	54.670801	19	29	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Silent	SNP	150881802	150881802	5926	5	C	T	T	19	19	FAT2	T	1	1
C5orf4	10826	broad.mit.edu	36	5	154180143	154180143	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:154180143C>T	uc003lvs.2	-	c.928G>A	c.(928-930)GAG>AAG	p.E310K	C5orf4_uc003lvr.1_Silent_p.T49T|C5orf4_uc003lvq.2_5'Flank	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	hypothetical protein LOC10826 isoform 2	310					fatty acid biosynthetic process|oxidation-reduction process	integral to membrane	iron ion binding|oxidoreductase activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)												0.285714	47.822455	50.419369	18	45	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		Missense_Mutation	SNP	154180143	154180143	2396	5	C	T	T	31	31	C5orf4	T	1	1
LPCAT1	79888	broad.mit.edu	36	5	1547910	1547910	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1547910G>A	uc003jcm.1	-	c.398C>T	c.(397-399)GCG>GTG	p.A133V		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	acyltransferase like 2	133	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2														0.246753	40.316511	44.794911	19	58	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	Missense_Mutation	SNP	1547910	1547910	9283	5	G	A	A	38	38	LPCAT1	A	1	1
LSM11	134353	broad.mit.edu	36	5	157114674	157114674	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:157114674C>T	uc003lxe.1	+	c.907C>T	c.(907-909)CGG>TGG	p.R303W	LSM11_uc003lxf.1_5'Flank	NM_173491	NP_775762	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	303					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)												0.383178	116.648672	117.92929	41	66	CC		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Missense_Mutation	SNP	157114674	157114674	9428	5	C	T	T	19	19	LSM11	T	1	1
SLU7	10569	broad.mit.edu	36	5	159767957	159767957	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159767957C>T	uc003lyg.1	-	c.776G>A	c.(775-777)CGA>CAA	p.R259Q		NM_006425	NP_006416	O95391	SLU7_HUMAN	step II splicing factor SLU7	259					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)												0.41844	179.001215	179.81973	59	82	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159767957	159767957	15253	5	C	T	T	31	31	SLU7	T	1	1
ODZ2	57451	broad.mit.edu	36	5	167621816	167621816	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:167621816C>T	uc010jjd.1	+	c.7721C>T	c.(7720-7722)ACG>ATG	p.T2574M	ODZ2_uc003lzr.2_Missense_Mutation_p.T2344M|ODZ2_uc003lzt.2_Missense_Mutation_p.T1947M|ODZ2_uc010jje.1_Missense_Mutation_p.T1838M	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)												0.565217	40.077753	40.163317	13	10	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	Missense_Mutation	SNP	167621816	167621816	11240	5	C	T	T	19	19	ODZ2	T	1	1
SLIT3	6586	broad.mit.edu	36	5	168046608	168046608	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:168046608C>T	uc010jjg.1	-	c.3289G>A	c.(3289-3291)GTG>ATG	p.V1097M	SLIT3_uc003mab.1_Missense_Mutation_p.V1090M	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3	1090	EGF-like 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)				Ovarian(29;311 847 10864 17279 24903)								0.33871	56.554945	57.981549	21	41	CC		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	168046608	168046608	15239	5	C	T	T	19	19	SLIT3	T	1	1
CCDC99	54908	broad.mit.edu	36	5	168958622	168958622	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:168958622G>A	uc003mae.2	+	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	CCDC99_uc010jjj.1_Missense_Mutation_p.R331Q|CCDC99_uc010jjk.1_Missense_Mutation_p.R128Q	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	402	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)												0.353448	125.355832	127.545662	41	75	GG		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	168958622	168958622	3001	5	G	A	A	39	39	CCDC99	A	1	1
GABRP	2568	broad.mit.edu	36	5	170165355	170165355	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:170165355G>A	uc003mau.1	+	c.599G>A	c.(598-600)CGT>CAT	p.R200H	GABRP_uc003mav.1_Missense_Mutation_p.R108H	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	200	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)												0.309278	80.221227	83.361227	30	67	GG		KEEP	---	---	---	---	capture	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Missense_Mutation	SNP	170165355	170165355	6425	5	G	A	A	40	40	GABRP	A	1	1
FAF2	23197	broad.mit.edu	36	5	175859727	175859727	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175859727C>T	uc003mej.2	+	c.1129C>T	c.(1129-1131)CGA>TGA	p.R377*		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	377	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1														0.371257	178.448051	180.86332	62	105	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	175859727	175859727	5567	5	C	T	T	19	19	FAF2	T	5	1
CDHR2	54825	broad.mit.edu	36	5	175937664	175937664	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175937664G>A	uc003mem.1	+	c.1536G>A	c.(1534-1536)GCG>GCA	p.A512A	CDHR2_uc003men.1_Silent_p.A512A	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	512	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2														0.375	50.637552	51.29615	18	30	GG		KEEP	---	---	---	---	capture			Silent	SNP	175937664	175937664	3248	5	G	A	A	40	40	CDHR2	A	1	1
GRM6	2916	broad.mit.edu	36	5	178346316	178346316	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178346316C>T	uc003mjr.1	-	c.1545G>A	c.(1543-1545)TCG>TCA	p.S515S	GRM6_uc003mjq.1_5'Flank|GRM6_uc010jla.1_Silent_p.S98S|GRM6_uc003mjs.1_Silent_p.S135S	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	515	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				ovary(2)|breast(1)|pancreas(1)	4	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)												0.314815	45.161898	46.806057	17	37	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	Silent	SNP	178346316	178346316	7080	5	C	T	T	19	19	GRM6	T	1	1
GRM6	2916	broad.mit.edu	36	5	178348711	178348711	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:178348711G>A	uc003mjr.1	-	c.1185C>T	c.(1183-1185)TAC>TAT	p.Y395Y	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.Y15Y	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	395	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				ovary(2)|breast(1)|pancreas(1)	4	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)												0.32	20.790903	21.510763	8	17	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	Silent	SNP	178348711	178348711	7080	5	G	A	A	40	40	GRM6	A	1	1
MAPK9	5601	broad.mit.edu	36	5	179608613	179608613	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179608613G>A	uc003mls.2	-	c.582C>T	c.(580-582)CCC>CCT	p.P194P	MAPK9_uc003mlt.2_Silent_p.P194P|MAPK9_uc003mlv.2_Silent_p.P194P|MAPK9_uc003mlu.2_Silent_p.P194P|MAPK9_uc010jlc.1_Silent_p.P194P	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	194	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|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|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)								167				0.353791	593.658424	604.089639	196	358	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Silent	SNP	179608613	179608613	9670	5	G	A	A	39	39	MAPK9	A	1	1
FLT4	2324	broad.mit.edu	36	5	179985586	179985586	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179985586C>T	uc003mlz.2	-	c.1310G>A	c.(1309-1311)CGT>CAT	p.R437H	FLT4_uc003mma.2_Missense_Mutation_p.R437H|FLT4_uc003mmb.1_5'UTR	NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	437	Ig-like C2-type 5.|Extracellular (Potential).				positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity			lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)			Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.293333	56.013903	58.886427	22	53	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Missense_Mutation	SNP	179985586	179985586	6186	5	C	T	T	19	19	FLT4	T	1	1
FLT4	2324	broad.mit.edu	36	5	179988940	179988940	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179988940C>T	uc003mlz.2	-	c.910G>A	c.(910-912)GAC>AAC	p.D304N	FLT4_uc003mma.2_Missense_Mutation_p.D304N|FLT4_uc003mmb.1_5'UTR	NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	304	Ig-like C2-type 3.|Extracellular (Potential).				positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity			lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)			Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.32	85.566632	88.444487	32	68	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Missense_Mutation	SNP	179988940	179988940	6186	5	C	T	T	31	31	FLT4	T	1	1
CDH6	1004	broad.mit.edu	36	5	31358995	31358995	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:31358995C>T	uc003jhe.1	+	c.2196C>T	c.(2194-2196)TAC>TAT	p.Y732Y		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	732	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.267442	57.483934	61.685843	23	63	CC		KEEP	---	---	---	---	capture			Silent	SNP	31358995	31358995	3243	5	C	T	T	19	19	CDH6	T	1	1
AGXT2	64902	broad.mit.edu	36	5	35034681	35034681	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:35034681C>T	uc003jjf.1	-	c.1445G>A	c.(1444-1446)CGC>CAC	p.R482H	AGXT2_uc003jje.1_Missense_Mutation_p.R135H	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	482					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)	3	all_lung(31;4.52e-05)				Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)									0.301887	88.166521	91.877236	32	74	CC		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Missense_Mutation	SNP	35034681	35034681	408	5	C	T	T	27	27	AGXT2	T	1	1
NUP155	9631	broad.mit.edu	36	5	37388649	37388649	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37388649G>A	uc003jku.1	-	c.503C>T	c.(502-504)GCG>GTG	p.A168V	NUP155_uc003jkt.1_Missense_Mutation_p.A109V|NUP155_uc010iuz.1_Missense_Mutation_p.A168V	NM_153485	NP_004289	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	168					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)													0.28	54.858414	58.11282	21	54	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		Missense_Mutation	SNP	37388649	37388649	11161	5	G	A	A	38	38	NUP155	A	1	1
GDNF	2668	broad.mit.edu	36	5	37851699	37851699	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:37851699G>A	uc003jky.1	-	c.498C>T	c.(496-498)TGC>TGT	p.C166C	GDNF_uc010ivb.1_Silent_p.C71C|GDNF_uc010ivc.1_Silent_p.C97C|GDNF_uc010ivd.1_Silent_p.C123C|GDNF_uc003jkx.1_Silent_p.C123C|GDNF_uc003jkz.1_Silent_p.C140C|GDNF_uc003jla.1_Silent_p.C149C	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	149					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of monooxygenase activity|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)													0.292373	176.277378	185.390262	69	167	GG		KEEP	---	---	---	---	capture			Silent	SNP	37851699	37851699	6590	5	G	A	A	38	38	GDNF	A	1	1
PTGER4	5734	broad.mit.edu	36	5	40727902	40727902	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40727902C>T	uc003jlz.1	+	c.1132C>T	c.(1132-1134)CGC>TGC	p.R378C		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	378	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity				0														0.208333	56.616025	66.064969	25	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40727902	40727902	13200	5	C	T	T	31	31	PTGER4	T	1	1
C7	730	broad.mit.edu	36	5	40985816	40985816	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:40985816G>A	uc003jmh.1	+	c.1036G>A	c.(1036-1038)GTT>ATT	p.V346I		NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	346	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.291667	19.117398	20.04917	7	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40985816	40985816	2482	5	G	A	A	40	40	C7	A	1	1
HEATR7B2	133558	broad.mit.edu	36	5	41068666	41068666	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41068666G>A	uc003jmj.2	-	c.2376C>T	c.(2374-2376)GAC>GAT	p.D792D	HEATR7B2_uc003jmi.2_Silent_p.D347D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	792	HEAT 9.						binding			ovary(6)|central_nervous_system(2)	8														0.323529	29.512151	30.452611	11	23	GG		KEEP	---	---	---	---	capture			Silent	SNP	41068666	41068666	7318	5	G	A	A	40	40	HEATR7B2	A	1	1
HEATR7B2	133558	broad.mit.edu	36	5	41093991	41093991	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41093991G>A	uc003jmj.2	-	c.687C>T	c.(685-687)TAC>TAT	p.Y229Y	HEATR7B2_uc003jmi.2_De_novo_Start_OutOfFrame	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	229	HEAT 2.						binding			ovary(6)|central_nervous_system(2)	8														0.246914	46.256205	50.982658	20	61	GG		KEEP	---	---	---	---	capture			Silent	SNP	41093991	41093991	7318	5	G	A	A	40	40	HEATR7B2	A	1	1
C6	729	broad.mit.edu	36	5	41185206	41185206	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41185206G>A	uc003jml.1	-	c.2544C>T	c.(2542-2544)GAC>GAT	p.D848D	C6_uc003jmk.2_Silent_p.D839D	NM_001115131	NP_001108603	P13671	CO6_HUMAN	complement component 6 precursor	839	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)	5		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)												0.296296	332.923036	348.961023	128	304	GG		KEEP	---	---	---	---	capture			Silent	SNP	41185206	41185206	2416	5	G	A	A	40	40	C6	A	1	1
PLCXD3	345557	broad.mit.edu	36	5	41418219	41418219	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41418219C>T	uc003jmm.1	-	c.278G>A	c.(277-279)CGT>CAT	p.R93H		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	93	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	4														0.310811	119.496729	124.215003	46	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41418219	41418219	12469	5	C	T	T	19	19	PLCXD3	T	1	1
GHR	2690	broad.mit.edu	36	5	42735779	42735779	+	Missense_Mutation	SNP	G	A	A	rs6181	by-cluster,by-hapmap	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:42735779G>A	uc003jmt.1	+	c.536G>A	c.(535-537)CGC>CAC	p.R179H		NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	179	Extracellular (Potential).|Fibronectin type-III.		R -> C (in LARS and ISSA).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(2)|kidney(1)	3		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)					274				0.213018	78.302736	91.169077	36	133	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42735779	42735779	6639	5	G	A	A	38	38	GHR	A	1	1
EXOC3	11336	broad.mit.edu	36	5	506622	506622	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:506622C>T	uc003jba.1	+	c.502C>T	c.(502-504)CGT>TGT	p.R168C		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	179					exocytosis|protein transport						0		Ovarian(839;0.0563)												0.235294	27.373775	30.642701	12	39	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		Missense_Mutation	SNP	506622	506622	5496	5	C	T	T	27	27	EXOC3	T	1	1
EXOC3	11336	broad.mit.edu	36	5	510036	510036	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:510036C>T	uc003jba.1	+	c.1079C>T	c.(1078-1080)CCG>CTG	p.P360L		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	371					exocytosis|protein transport						0		Ovarian(839;0.0563)												0.223684	43.936463	49.269224	17	59	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		Missense_Mutation	SNP	510036	510036	5496	5	C	T	T	23	23	EXOC3	T	1	1
ANKRD55	79722	broad.mit.edu	36	5	55443031	55443031	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:55443031G>A	uc003jqu.1	-	c.1301C>T	c.(1300-1302)ACG>ATG	p.T434M	ANKRD55_uc003jqt.1_Missense_Mutation_p.T146M	NM_024669	NP_001035024	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	433											0		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)												0.373134	137.327967	139.216104	50	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55443031	55443031	689	5	G	A	A	40	40	ANKRD55	A	1	1
MIER3	166968	broad.mit.edu	36	5	56254733	56254733	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56254733G>A	uc003jrc.1	-	c.1647C>T	c.(1645-1647)CAC>CAT	p.H549H	MIER3_uc003jqz.1_Silent_p.H481H|MIER3_uc003jra.1_Silent_p.H543H|MIER3_uc003jrb.1_Silent_p.H368H|MIER3_uc003jrd.1_Silent_p.H544H	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)										OREG0003880	type=REGULATORY REGION|Gene=AK002183|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.289474	59.822509	62.839536	22	54	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	Silent	SNP	56254733	56254733	9972	5	G	A	A	40	40	MIER3	A	1	1
MAST4	375449	broad.mit.edu	36	5	66494909	66494909	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:66494909G>A	uc003jut.1	+	c.3579G>A	c.(3577-3579)ACG>ACA	p.T1193T	MAST4_uc003juw.1_Silent_p.T435T|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1385					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)								805				0.449275	84.703933	84.859943	31	38	GG		KEEP	---	---	---	---	capture		Lung(70;0.011)	Silent	SNP	66494909	66494909	9711	5	G	A	A	38	38	MAST4	A	1	1
CEP72	55722	broad.mit.edu	36	5	677588	677588	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:677588G>A	uc003jbf.1	+	c.406G>A	c.(406-408)GAT>AAT	p.D136N		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	136	LRRCT.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1														0.253012	52.265087	56.843278	21	62	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		Missense_Mutation	SNP	677588	677588	3393	5	G	A	A	37	37	CEP72	A	1	1
MAP1B	4131	broad.mit.edu	36	5	71529157	71529157	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:71529157G>A	uc003kbw.2	+	c.4219G>A	c.(4219-4221)GAG>AAG	p.E1407K	MAP1B_uc010iyw.1_Missense_Mutation_p.E1424K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1281K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1281K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1407						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)				Melanoma(17;367 822 11631 31730 47712)								0.11	10.554615	25.605971	11	89	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	Missense_Mutation	SNP	71529157	71529157	9611	5	G	A	A	37	37	MAP1B	A	1	1
RASGRF2	5924	broad.mit.edu	36	5	80511831	80511831	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:80511831G>A	uc003kha.1	+	c.2768G>A	c.(2767-2769)CGT>CAT	p.R923H		NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	923					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)								847				0.471154	291.733921	291.884187	98	110	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	Missense_Mutation	SNP	80511831	80511831	13534	5	G	A	A	40	40	RASGRF2	A	1	1
RIOK2	55781	broad.mit.edu	36	5	96529159	96529159	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:96529159G>A	uc003kmz.1	-	c.1165C>T	c.(1165-1167)CGG>TGG	p.R389W	RIOK2_uc003kna.2_Missense_Mutation_p.R389W	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	389	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)								222				0.389558	286.625962	289.283951	97	152	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(37;0.0657)	Missense_Mutation	SNP	96529159	96529159	13855	5	G	A	A	40	40	RIOK2	A	1	1
ASCC3	10973	broad.mit.edu	36	6	101067457	101067457	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:101067457G>A	uc003pqk.1	-	c.6134C>T	c.(6133-6135)TCG>TTG	p.S2045L		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	2045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)	5		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)												0.381679	146.515205	148.124943	50	81	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	Missense_Mutation	SNP	101067457	101067457	1051	6	G	A	A	37	37	ASCC3	A	1	1
ARMC2	84071	broad.mit.edu	36	6	109327619	109327619	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:109327619G>A	uc003pss.2	+	c.778G>A	c.(778-780)GCA>ACA	p.A260T		NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	260							binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)												0.382353	39.068104	39.480365	13	21	GG		KEEP	---	---	---	---	capture		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	Missense_Mutation	SNP	109327619	109327619	969	6	G	A	A	38	38	ARMC2	A	1	1
EDN1	1906	broad.mit.edu	36	6	12398893	12398893	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:12398893C>T	uc003nae.2	+	c.45C>T	c.(43-45)TGC>TGT	p.C15C	EDN1_uc010jpb.1_Silent_p.C15C|EDN1_uc003nad.2_Silent_p.C15C|EDN1_uc003naf.2_Silent_p.C15C	NM_001955	NP_001946	P05305	EDN1_HUMAN	endothelin 1	15					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of nitric-oxide synthase biosynthetic process|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity				0	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)							p.C15C(697-Tumor)	58		OREG0017197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.155556	9.307686	14.403801	7	38	CC		KEEP	---	---	---	---	capture			Silent	SNP	12398893	12398893	5103	6	C	T	T	26	26	EDN1	T	2	2
MAP7	9053	broad.mit.edu	36	6	136722687	136722687	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:136722687C>T	uc003qgz.1	-	c.1876G>A	c.(1876-1878)GGT>AGT	p.G626S	MAP7_uc003qha.1_Missense_Mutation_p.G589S|MAP7_uc010kgq.1_Missense_Mutation_p.G532S	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	626					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)													0.341463	333.60696	340.888868	112	216	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	Missense_Mutation	SNP	136722687	136722687	9649	6	C	T	T	23	23	MAP7	T	1	1
MAP7	9053	broad.mit.edu	36	6	136723870	136723870	+	Missense_Mutation	SNP	C	T	T	rs34607647	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:136723870C>T	uc003qgz.1	-	c.1667G>A	c.(1666-1668)CGC>CAC	p.R556H	MAP7_uc003qha.1_Missense_Mutation_p.R519H|MAP7_uc010kgq.1_Missense_Mutation_p.R462H	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	556	Potential.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)													0.5625	26.775484	26.829793	9	7	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	Missense_Mutation	SNP	136723870	136723870	9649	6	C	T	T	27	27	MAP7	T	1	1
PERP	64065	broad.mit.edu	36	6	138459237	138459237	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138459237C>T	uc003qht.1	-	c.302G>A	c.(301-303)GGA>GAA	p.G101E		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	101					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus					0	Breast(32;0.0799)|Colorectal(23;0.24)													0.363636	46.889744	47.608872	16	28	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	Missense_Mutation	SNP	138459237	138459237	12153	6	C	T	T	30	30	PERP	T	2	2
KIAA1244	57221	broad.mit.edu	36	6	138592636	138592636	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138592636C>T	uc003qhu.2	+	c.374C>T	c.(373-375)ACG>ATG	p.T125M		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	125					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)													0.303571	45.452235	47.3816	17	39	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Missense_Mutation	SNP	138592636	138592636	8526	6	C	T	T	19	19	KIAA1244	T	1	1
KIAA1244	57221	broad.mit.edu	36	6	138641373	138641373	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138641373G>A	uc003qhu.2	+	c.2221G>A	c.(2221-2223)GCC>ACC	p.A741T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	741	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)													0.391566	173.631112	175.341822	65	101	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Missense_Mutation	SNP	138641373	138641373	8526	6	G	A	A	38	38	KIAA1244	A	1	1
KIAA1244	57221	broad.mit.edu	36	6	138699245	138699245	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138699245G>A	uc003qhu.2	+	c.6463G>A	c.(6463-6465)GAC>AAC	p.D2155N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	2155					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)													0.239766	99.082222	109.661794	41	130	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Missense_Mutation	SNP	138699245	138699245	8526	6	G	A	A	37	37	KIAA1244	A	1	1
STXBP5	134957	broad.mit.edu	36	6	147722028	147722028	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:147722028G>A	uc003qlz.2	+	c.2421G>A	c.(2419-2421)ACG>ACA	p.T807T	STXBP5_uc010khz.1_Silent_p.T771T|STXBP5_uc003qlx.2_Non-coding_Transcript|STXBP5_uc003qly.2_Silent_p.T462T	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	807	WD 11.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)												0.354331	131.346278	133.717865	45	82	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	Silent	SNP	147722028	147722028	15876	6	G	A	A	39	39	STXBP5	A	1	1
ZC3H12D	340152	broad.mit.edu	36	6	149837267	149837267	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:149837267C>T	uc003qmm.2	-	c.106G>A	c.(106-108)GTG>ATG	p.V36M	PPIL4_uc010kic.1_Intron|ZC3H12D_uc010kid.1_Missense_Mutation_p.V36M|ZC3H12D_uc003qmn.1_Missense_Mutation_p.V36M	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	36						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)												0.3125	26.939274	27.940295	10	22	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	Missense_Mutation	SNP	149837267	149837267	18152	6	C	T	T	19	19	ZC3H12D	T	1	1
ULBP2	80328	broad.mit.edu	36	6	150304976	150304976	+	Silent	SNP	T	G	G			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:150304976T>G	uc003qno.1	+	c.75T>G	c.(73-75)GCT>GCG	p.A25A	ULBP2_uc010kij.1_Silent_p.A25A	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	25					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity				0		Ovarian(120;0.0907)												0.75	7.76347	7.760252	3	1	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	Silent	SNP	150304976	150304976	17531	6	T	G	G	55	55	ULBP2	G	4	4
MTHFD1L	25902	broad.mit.edu	36	6	151307383	151307383	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:151307383C>T	uc003qob.1	+	c.1509C>T	c.(1507-1509)ATC>ATT	p.I503I	MTHFD1L_uc003qoc.1_Silent_p.I451I	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	503	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)												0.47619	30.148766	30.159095	10	11	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	Silent	SNP	151307383	151307383	10321	6	C	T	T	31	31	MTHFD1L	T	1	1
C6orf97	80129	broad.mit.edu	36	6	151907483	151907483	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:151907483G>A	uc003qol.1	+	c.527G>A	c.(526-528)CGT>CAT	p.R176H		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	176	Potential.										0		Ovarian(120;0.126)								349				0.246377	84.696577	92.768245	34	104	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	Missense_Mutation	SNP	151907483	151907483	2481	6	G	A	A	40	40	C6orf97	A	1	1
SLC22A2	6582	broad.mit.edu	36	6	160599631	160599631	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160599631C>T	uc003qte.1	-	c.149G>A	c.(148-150)CGC>CAC	p.R50H	SLC22A2_uc003qtf.1_Missense_Mutation_p.R50H|SLC22A2_uc003qth.1_Missense_Mutation_p.R50H	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	50	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)												0.362745	96.448584	98.138107	37	65	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Missense_Mutation	SNP	160599631	160599631	14947	6	C	T	T	27	27	SLC22A2	T	1	1
ATXN1	6310	broad.mit.edu	36	6	16436058	16436058	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:16436058C>T	uc003nbt.1	-	c.463G>A	c.(463-465)GTC>ATC	p.V155I	ATXN1_uc010jpi.1_Missense_Mutation_p.V155I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	ataxin 1	155					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association|transcription repressor activity			central_nervous_system(1)	1	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)												0.353448	110.840924	113.037232	41	75	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16436058	16436058	1228	6	C	T	T	19	19	ATXN1	T	1	1
T	6862	broad.mit.edu	36	6	166491929	166491929	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:166491929G>A	uc003qut.1	-	c.1175C>T	c.(1174-1176)TCG>TTG	p.S392L	T_uc003quu.1_Missense_Mutation_p.S391L|T_uc003quv.1_Missense_Mutation_p.S333L	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	391					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)												0.357143	82.918528	84.431699	30	54	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	Missense_Mutation	SNP	166491929	166491929	16009	6	G	A	A	37	37	T	A	1	1
WDR27	253769	broad.mit.edu	36	6	169774997	169774997	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:169774997G>A	uc010kkw.1	-	c.2194C>T	c.(2194-2196)CGG>TGG	p.R732W	WDR27_uc003qwv.1_Non-coding_Transcript|WDR27_uc003qwx.2_Missense_Mutation_p.R732W|WDR27_uc003qwy.2_Missense_Mutation_p.R605W	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	WD repeat domain 27	702	WD 8.									pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)												0.617647	66.482242	66.895306	21	13	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	Missense_Mutation	SNP	169774997	169774997	17857	6	G	A	A	40	40	WDR27	A	1	1
HMGN4	10473	broad.mit.edu	36	6	26653493	26653493	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:26653493G>A	uc003nig.1	+	c.80G>A	c.(79-81)CGG>CAG	p.R27Q	HMGN4_uc010jql.1_Missense_Mutation_p.R27Q	NM_006353	NP_006344	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain	27						chromatin|nucleus	DNA binding				0														0.36	80.507001	81.8	27	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26653493	26653493	7528	6	G	A	A	39	39	HMGN4	A	1	1
SERPINB1	1992	broad.mit.edu	36	6	2785791	2785791	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2785791C>T	uc003mub.1	-	c.29G>A	c.(28-30)CGC>CAC	p.R10H	SERPINB1_uc003muc.1_5'UTR	NM_030666	NP_109591	P30740	ILEU_HUMAN	serine (or cysteine) proteinase inhibitor, clade	10					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|ovary(1)	5	Ovarian(93;0.0412)									73				0.37037	85.728833	86.924887	30	51	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	Missense_Mutation	SNP	2785791	2785791	14584	6	C	T	T	27	27	SERPINB1	T	1	1
GTF2H4	2968	broad.mit.edu	36	6	30984889	30984889	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30984889C>T	uc003nsa.1	+	c.97C>T	c.(97-99)CGA>TGA	p.R33*	GTF2H4_uc010jsf.1_Nonsense_Mutation_p.R33*|GTF2H4_uc003nsb.1_5'UTR	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	33					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.458333	67.746666	67.818938	22	26	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	30984889	30984889	7145	6	C	T	T	23	23	GTF2H4	T	5	1
HLA-B	3106	broad.mit.edu	36	6	31432547	31432547	+	Silent	SNP	C	A	A	rs41551615	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31432547C>A	uc003nth.2	-	c.240G>T	c.(238-240)GGG>GGT	p.G80G	HLA-C_uc003ntb.1_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc003ntf.2_Silent_p.G80G|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.1_Silent_p.G52G	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	80	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0														0.375	8.538918	8.642363	3	5	CC		KEEP	---	---	---	---	capture			Silent	SNP	31432547	31432547	7487	6	C	A	A	26	26	HLA-B	A	3	3
BAT2	7916	broad.mit.edu	36	6	31700091	31700091	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31700091C>T	uc003nvb.2	+	c.365C>T	c.(364-366)CCG>CTG	p.P122L	BAT2_uc003nvc.2_Missense_Mutation_p.P122L|BAT2_uc003nve.2_5'Flank	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	122	4 X 57 AA type A repeats.|1-2.			ESQPLPASQTPASNQPK -> NRTTAGFTDACLQPAE (in Ref. 8; CAA78744).		cytoplasm|nucleus	protein binding				0														0.37415	157.890216	159.933337	55	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31700091	31700091	1340	6	C	T	T	23	23	BAT2	T	1	1
VARS	7407	broad.mit.edu	36	6	31860190	31860190	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31860190G>A	uc003nxe.1	-	c.1536C>T	c.(1534-1536)TTC>TTT	p.F512F		NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	512					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			ovary(1)	1					L-Valine(DB00161)									0.359477	154.968942	157.633902	55	98	GG		KEEP	---	---	---	---	capture			Silent	SNP	31860190	31860190	17688	6	G	A	A	37	37	VARS	A	1	1
SKIV2L	6499	broad.mit.edu	36	6	32045052	32045052	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32045052G>A	uc003nyn.1	+	c.3416G>A	c.(3415-3417)CGG>CAG	p.R1139Q	STK19_uc003nyt.1_5'Flank|STK19_uc010jtm.1_5'Flank|STK19_uc003nyv.1_5'Flank|STK19_uc003nyw.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	1139						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4														0.368421	82.17668	83.334393	28	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32045052	32045052	14854	6	G	A	A	39	39	SKIV2L	A	1	1
C4B	721	broad.mit.edu	36	6	32103175	32103175	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32103175C>T	uc003nzc.2	+	c.2777C>T	c.(2776-2778)GCG>GTG	p.A926V	C4B_uc010jtr.1_Missense_Mutation_p.A926V	NM_001002029	NP_009224	P0C0L5	CO4B_HUMAN	complement component 4B preproprotein	926					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0										129				0.109756	9.322091	21.677229	9	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32103175	32103175	2343	6	C	T	T	27	27	C4B	T	1	1
TNXB	7148	broad.mit.edu	36	6	32124338	32124338	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32124338C>T	uc003nzl.2	-	c.9819G>A	c.(9817-9819)TCG>TCA	p.S3273S	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3320	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.222222	10.112272	11.37435	4	14	CC		KEEP	---	---	---	---	capture			Silent	SNP	32124338	32124338	16887	6	C	T	T	23	23	TNXB	T	1	1
TNXB	7148	broad.mit.edu	36	6	32171705	32171705	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32171705G>A	uc003nzl.2	-	c.1903C>T	c.(1903-1905)CGC>TGC	p.R635C		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	635	EGF-like 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.25	11.577099	12.706124	5	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32171705	32171705	16887	6	G	A	A	38	38	TNXB	A	1	1
ATF6B	1388	broad.mit.edu	36	6	32195661	32195661	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32195661G>A	uc003nzn.1	-	c.884C>T	c.(883-885)CCG>CTG	p.P295L	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.1_Missense_Mutation_p.P292L|ATF6B_uc003nzp.1_5'UTR	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	295	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.439394	91.07395	91.283243	29	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32195661	32195661	1104	6	G	A	A	39	39	ATF6B	A	1	1
AGPAT1	10554	broad.mit.edu	36	6	32246309	32246309	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32246309G>A	uc003oae.1	-	c.381C>T	c.(379-381)CGC>CGT	p.R127R	PPT2_uc003nzy.1_Non-coding_Transcript|AGPAT1_uc003oaf.1_Silent_p.R127R|AGPAT1_uc003oag.1_Intron|AGPAT1_uc003oah.1_Silent_p.R127R|AGPAT1_uc003oai.1_Silent_p.R127R	NM_006411	NP_116130	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	127					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|positive regulation of cytokine-mediated signaling pathway|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1														0.327273	93.766815	96.675246	36	74	GG		KEEP	---	---	---	---	capture			Silent	SNP	32246309	32246309	389	6	G	A	A	38	38	AGPAT1	A	1	1
NOTCH4	4855	broad.mit.edu	36	6	32289991	32289991	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32289991C>T	uc003obb.1	-	c.2041G>A	c.(2041-2043)GTG>ATG	p.V681M		NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	681	EGF-like 17.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.323144	206.477992	212.832822	74	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32289991	32289991	10954	6	C	T	T	19	19	NOTCH4	T	1	1
TAP1	6890	broad.mit.edu	36	6	32926815	32926815	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32926815G>A	uc003ocg.1	-	c.1114C>T	c.(1114-1116)CGA>TGA	p.R372*		NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	372	ABC transmembrane type-1.|Helical; Name=7; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.351351	71.634516	73.073699	26	48	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	32926815	32926815	16071	6	G	A	A	38	38	TAP1	A	5	1
COL11A2	1302	broad.mit.edu	36	6	33241730	33241730	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33241730C>T	uc003ocx.1	-	c.4438G>A	c.(4438-4440)GGA>AGA	p.G1480R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1394R|COL11A2_uc003ocz.1_Missense_Mutation_p.G1373R	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1480	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.378788	73.660384	74.510616	25	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33241730	33241730	3806	6	C	T	T	23	23	COL11A2	T	1	1
ITPR3	3710	broad.mit.edu	36	6	33746452	33746452	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33746452G>A	uc010jvc.1	+	c.2468G>A	c.(2467-2469)CGA>CAA	p.R823Q		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	823	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.323077	116.942729	120.535852	42	88	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33746452	33746452	8226	6	G	A	A	37	37	ITPR3	A	1	1
ITPR3	3710	broad.mit.edu	36	6	33746544	33746544	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33746544G>A	uc010jvc.1	+	c.2560G>A	c.(2560-2562)GAG>AAG	p.E854K		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	854	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.435065	205.804136	206.3699	67	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33746544	33746544	8226	6	G	A	A	37	37	ITPR3	A	1	1
RPS10	6204	broad.mit.edu	36	6	34500432	34500432	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34500432C>T	uc003ojm.1	-	c.314G>A	c.(313-315)CGG>CAG	p.R105Q	RPS10_uc003ojn.1_Missense_Mutation_p.R105Q	NM_001014	NP_001005	P46783	RS10_HUMAN	ribosomal protein S10	105					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding				0						Colon(121;749 1624 4895 8687 22360)								0.433333	39.271141	39.387188	13	17	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34500432	34500432	14099	6	C	T	T	23	23	RPS10	T	1	1
BRPF3	27154	broad.mit.edu	36	6	36283144	36283144	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:36283144G>A	uc003olv.2	+	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	BRPF3_uc010jwb.1_Missense_Mutation_p.R561Q|BRPF3_uc010jwc.1_Non-coding_Transcript	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	561					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)	1														0.442623	85.118753	85.293405	27	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36283144	36283144	1552	6	G	A	A	39	39	BRPF3	A	1	1
TMEM217	221468	broad.mit.edu	36	6	37294709	37294709	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:37294709C>T	uc003onl.1	-	c.76G>A	c.(76-78)GTA>ATA	p.V26I	TMEM217_uc010jwr.1_Missense_Mutation_p.V26I|TMEM217_uc010jws.1_Intron|TMEM217_uc003onm.2_Missense_Mutation_p.V26I	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	transmembrane protein 217	26	Helical; (Potential).					integral to membrane					0														0.410646	322.162185	323.993012	108	155	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37294709	37294709	16676	6	C	T	T	19	19	TMEM217	T	1	1
MDGA1	266727	broad.mit.edu	36	6	37713982	37713982	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:37713982C>T	uc003onu.1	-	c.2753G>A	c.(2752-2754)CGG>CAG	p.R918Q	MDGA1_uc003onv.1_Missense_Mutation_p.R187Q	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	918	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2														0.355263	81.811103	83.210649	27	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37713982	37713982	9795	6	C	T	T	23	23	MDGA1	T	1	1
MOCS1	4337	broad.mit.edu	36	6	39985643	39985643	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:39985643C>T	uc003opb.2	-	c.1016G>A	c.(1015-1017)CGG>CAG	p.R339Q	MOCS1_uc003opa.2_Missense_Mutation_p.R339Q|MOCS1_uc003opc.2_Missense_Mutation_p.R339Q|MOCS1_uc003opd.2_Missense_Mutation_p.R339Q|MOCS1_uc003ope.2_Missense_Mutation_p.R252Q	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	339	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)								0.348387	156.597697	159.744387	54	101	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39985643	39985643	10081	6	C	T	T	23	23	MOCS1	T	1	1
TFEB	7942	broad.mit.edu	36	6	41763706	41763706	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41763706G>A	uc003oqu.1	-	c.630C>T	c.(628-630)AGC>AGT	p.S210S	TFEB_uc003oqr.1_Silent_p.S111S|TFEB_uc003oqs.1_Silent_p.S196S|TFEB_uc003oqt.1_Silent_p.S196S|TFEB_uc003oqv.1_Silent_p.S196S|TFEB_uc010jxo.1_Silent_p.S196S	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	196					embryonic placenta development|humoral immune response|positive regulation of gene-specific transcription from RNA polymerase II promoter	cytoplasm	promoter binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)									134				0.252747	55.285146	60.334933	23	68	GG		KEEP	---	---	---	---	capture	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		Silent	SNP	41763706	41763706	16329	6	G	A	A	38	38	TFEB	A	1	1
FRS3	10817	broad.mit.edu	36	6	41847152	41847152	+	Missense_Mutation	SNP	G	A	A	rs3747747	by-frequency,by-hapmap	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:41847152G>A	uc003orc.1	-	c.662C>T	c.(661-663)CCG>CTG	p.P221L		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	221					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)													0.439252	143.304706	143.649055	47	60	GG		KEEP	---	---	---	---	capture	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		Missense_Mutation	SNP	41847152	41847152	6312	6	G	A	A	39	39	FRS3	A	1	1
TRERF1	55809	broad.mit.edu	36	6	42318973	42318973	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42318973G>A	uc003ose.1	-	c.2910C>T	c.(2908-2910)GAC>GAT	p.D970D	TRERF1_uc003osb.1_Silent_p.D706D|TRERF1_uc003osc.1_Silent_p.D706D|TRERF1_uc003osd.1_Silent_p.D950D	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	950	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription mediator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)													0.41573	222.231839	223.331539	74	104	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		Silent	SNP	42318973	42318973	17019	6	G	A	A	40	40	TRERF1	A	1	1
TRERF1	55809	broad.mit.edu	36	6	42340461	42340461	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:42340461G>A	uc003ose.1	-	c.1594C>T	c.(1594-1596)CGG>TGG	p.R532W	TRERF1_uc003osb.1_Missense_Mutation_p.R371W|TRERF1_uc003osc.1_Missense_Mutation_p.R371W|TRERF1_uc003osd.1_Missense_Mutation_p.R532W	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	532	Interacts with CREBBP.|C2H2-type 1.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription mediator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)													0.357798	107.195711	109.136278	39	70	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		Missense_Mutation	SNP	42340461	42340461	17019	6	G	A	A	38	38	TRERF1	A	1	1
CUL7	9820	broad.mit.edu	36	6	43119235	43119235	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43119235C>T	uc003otq.1	-	c.3284G>A	c.(3283-3285)CGT>CAT	p.R1095H	CUL7_uc010jyg.1_Missense_Mutation_p.R374H|CUL7_uc010jyh.1_Missense_Mutation_p.R88H|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1095					interspecies interaction between organisms|regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4														0.403226	67.658208	68.166383	25	37	CC		KEEP	---	---	---	---	capture	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		Missense_Mutation	SNP	43119235	43119235	4220	6	C	T	T	19	19	CUL7	T	1	1
MRPL2	51069	broad.mit.edu	36	6	43132113	43132113	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43132113C>T	uc003ots.1	-	c.314G>A	c.(313-315)CGA>CAA	p.R105Q	CUL7_uc003otq.1_5'Flank|CUL7_uc010jyh.1_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	105					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)												0.4	77.63764	78.205876	26	39	CC		KEEP	---	---	---	---	capture	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	Missense_Mutation	SNP	43132113	43132113	10178	6	C	T	T	31	31	MRPL2	T	1	1
ZNF318	24149	broad.mit.edu	36	6	43415635	43415635	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43415635C>T	uc003oux.1	-	c.4079G>A	c.(4078-4080)CGC>CAC	p.R1360H	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1360					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(2)|breast(2)|central_nervous_system(1)	5														0.444444	103.065516	103.283914	36	45	CC		KEEP	---	---	---	---	capture	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		Missense_Mutation	SNP	43415635	43415635	18428	6	C	T	T	27	27	ZNF318	T	1	1
TJAP1	93643	broad.mit.edu	36	6	43579402	43579402	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43579402C>T	uc003ovd.1	+	c.559C>T	c.(559-561)CGA>TGA	p.R187*	TJAP1_uc003ovc.1_Nonsense_Mutation_p.R177*|TJAP1_uc010jyp.1_Nonsense_Mutation_p.R146*|TJAP1_uc003ove.1_Nonsense_Mutation_p.R177*|TJAP1_uc003ovf.1_Nonsense_Mutation_p.R177*|TJAP1_uc003ovg.1_Nonsense_Mutation_p.R53*|TJAP1_uc003ovh.1_5'UTR|TJAP1_uc003ovi.1_Nonsense_Mutation_p.R53*	NM_080604	NP_542171	Q5JTD0	TJAP1_HUMAN	tight junction protein 4 (peripheral)	187						Golgi apparatus|tight junction	protein binding				0	all_lung(25;0.00536)													0.178571	21.334905	26.765646	10	46	CC		KEEP	---	---	---	---	capture	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Nonsense_Mutation	SNP	43579402	43579402	16457	6	C	T	T	23	23	TJAP1	T	5	1
XPO5	57510	broad.mit.edu	36	6	43600650	43600650	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43600650G>A	uc003ovp.1	-	c.3209C>T	c.(3208-3210)ACG>ATG	p.T1070M	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	1070					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)									509				0.410256	45.190516	45.465433	16	23	GG		KEEP	---	---	---	---	capture	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		Missense_Mutation	SNP	43600650	43600650	18030	6	G	A	A	40	40	XPO5	A	1	1
VEGFA	7422	broad.mit.edu	36	6	43857760	43857760	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:43857760G>A	uc003owh.1	+	c.1175G>A	c.(1174-1176)CGT>CAT	p.R392H	VEGFA_uc003owd.1_Missense_Mutation_p.R351H|VEGFA_uc003owe.1_Missense_Mutation_p.R351H|VEGFA_uc003owg.1_Missense_Mutation_p.R369H|VEGFA_uc003owf.1_Missense_Mutation_p.R375H|VEGFA_uc003owi.1_Missense_Mutation_p.R351H|VEGFA_uc003owj.1_Intron|VEGFA_uc010jyx.1_Intron|VEGFA_uc003owk.1_Intron	NM_001025366	NP_001020537	P15692	VEGFA_HUMAN	vascular endothelial growth factor A isoform a	212					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|extracellular matrix binding|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			ovary(1)	1	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)				Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)					359				0.324675	68.650283	70.749783	25	52	GG		KEEP	---	---	---	---	capture	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Missense_Mutation	SNP	43857760	43857760	17717	6	G	A	A	40	40	VEGFA	A	1	1
AARS2	57505	broad.mit.edu	36	6	44377852	44377852	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44377852G>A	uc010jza.1	-	c.2521C>T	c.(2521-2523)CGG>TGG	p.R841W	SPATS1_uc003oxg.1_Intron|TMEM151B_uc003oxf.1_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	841					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)				L-Alanine(DB00160)									0.407407	26.519932	26.720875	11	16	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Missense_Mutation	SNP	44377852	44377852	21	6	G	A	A	38	38	AARS2	A	1	1
GCM1	8521	broad.mit.edu	36	6	53106906	53106906	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:53106906C>T	uc003pbp.1	-	c.251G>A	c.(250-252)CGC>CAC	p.R84H	GCM1_uc010jzr.1_Missense_Mutation_p.R84H	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	84	GCM.				regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)													0.330508	102.780553	105.78701	39	79	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53106906	53106906	6563	6	C	T	T	27	27	GCM1	T	1	1
GFRAL	389400	broad.mit.edu	36	6	55324138	55324138	+	Missense_Mutation	SNP	T	A	A			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:55324138T>A	uc003pcm.1	+	c.499T>A	c.(499-501)TGC>AGC	p.C167S		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	167	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)													0.391176	388.506752	392.029272	133	207	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.23)		Missense_Mutation	SNP	55324138	55324138	6619	6	T	A	A	59	59	GFRAL	A	4	4
GFRAL	389400	broad.mit.edu	36	6	55324302	55324302	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:55324302C>T	uc003pcm.1	+	c.663C>T	c.(661-663)CTC>CTT	p.L221L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	221	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)													0.342593	104.274766	106.623668	37	71	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.23)		Silent	SNP	55324302	55324302	6619	6	C	T	T	29	29	GFRAL	T	2	2
BMP5	653	broad.mit.edu	36	6	55847478	55847478	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:55847478G>A	uc003pcq.1	-	c.145C>T	c.(145-147)CGG>TGG	p.R49W		NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	49					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)													0.372624	281.684259	285.431609	98	165	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.181)		Missense_Mutation	SNP	55847478	55847478	1488	6	G	A	A	40	40	BMP5	A	1	1
DST	667	broad.mit.edu	36	6	56450180	56450180	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:56450180G>A	uc003pcz.2	-	c.14706C>T	c.(14704-14706)ACC>ACT	p.T4902T	DST_uc003pcy.2_Silent_p.T4576T	NM_183380	NP_899236	Q03001	DYST_HUMAN	dystonin isoform 1	6988	Spectrin 20.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)									2498				0.454545	271.848896	272.201229	90	108	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		Silent	SNP	56450180	56450180	4967	6	G	A	A	39	39	DST	A	1	1
RIOK1	83732	broad.mit.edu	36	6	7350156	7350156	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7350156C>T	uc003mxn.1	+	c.999C>T	c.(997-999)CAC>CAT	p.H333H	RIOK1_uc003mxo.1_Silent_p.H92H	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	333	Protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(2)	2	Ovarian(93;0.0418)									302				0.341463	38.135098	39.046864	14	27	CC		KEEP	---	---	---	---	capture			Silent	SNP	7350156	7350156	13854	6	C	T	T	19	19	RIOK1	T	1	1
CD109	135228	broad.mit.edu	36	6	74584922	74584922	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74584922C>T	uc003php.1	+	c.4002C>T	c.(4000-4002)AGC>AGT	p.S1334S	CD109_uc010kaz.1_Intron|CD109_uc003phq.1_Silent_p.S1317S|CD109_uc010kba.1_Silent_p.S1257S	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109	1334						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4														0.459184	133.858598	134.001085	45	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	74584922	74584922	3090	6	C	T	T	27	27	CD109	T	1	1
SENP6	26054	broad.mit.edu	36	6	76462314	76462314	+	Missense_Mutation	SNP	G	A	A	rs12195603	by-hapmap	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76462314G>A	uc003pid.2	+	c.2150G>A	c.(2149-2151)CGC>CAC	p.R717H	SENP6_uc003pie.2_Missense_Mutation_p.R710H|SENP6_uc010kbf.1_Non-coding_Transcript	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	717	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			urinary_tract(1)|ovary(1)|breast(1)|skin(1)	4		all_hematologic(105;0.189)												0.320197	177.801601	183.633418	65	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76462314	76462314	14536	6	G	A	A	38	38	SENP6	A	1	1
ELOVL4	6785	broad.mit.edu	36	6	80692691	80692691	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:80692691C>T	uc003pja.2	-	c.227G>A	c.(226-228)CGT>CAT	p.R76H	ELOVL4_uc010kbh.1_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	76					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process|visual perception	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			ovary(1)	1		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)			Alpha-Linolenic Acid(DB00132)									0.352941	83.720047	85.342953	30	55	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Missense_Mutation	SNP	80692691	80692691	5268	6	C	T	T	19	19	ELOVL4	T	1	1
RWDD2A	112611	broad.mit.edu	36	6	83962541	83962541	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:83962541G>A	uc003pjx.2	+	c.710G>A	c.(709-711)CGC>CAC	p.R237H	PGM3_uc003pjv.1_5'Flank|PGM3_uc003pjw.1_5'Flank	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	237											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)												0.404255	166.460568	167.58604	57	84	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.045)	Missense_Mutation	SNP	83962541	83962541	14235	6	G	A	A	38	38	RWDD2A	A	1	1
CNR1	1268	broad.mit.edu	36	6	88911672	88911672	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88911672C>T	uc003pmp.1	-	c.41G>A	c.(40-42)CGC>CAC	p.R14H	CNR1_uc003pmo.1_Missense_Mutation_p.A9T|CNR1_uc010kbz.1_Missense_Mutation_p.R14H|CNR1_uc003pmq.2_Missense_Mutation_p.R14H|CNR1_uc010kca.1_Missense_Mutation_p.R14H	NM_016083	NP_057167	P21554	CNR1_HUMAN	central cannabinoid receptor isoform a	14	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding				0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)			Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)									0.387234	263.556324	266.179161	91	144	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.15)	Missense_Mutation	SNP	88911672	88911672	3769	6	C	T	T	27	27	CNR1	T	1	1
MDN1	23195	broad.mit.edu	36	6	90539145	90539145	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90539145C>T	uc003pnn.1	-	c.1951G>A	c.(1951-1953)GCT>ACT	p.A651T	MDN1_uc003pno.1_Missense_Mutation_p.A69T	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	651					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)												0.416667	150.858795	151.577913	50	70	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0193)	Missense_Mutation	SNP	90539145	90539145	9804	6	C	T	T	27	27	MDN1	T	1	1
MANEA	79694	broad.mit.edu	36	6	96160791	96160791	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:96160791G>A	uc003poo.1	+	c.1178G>A	c.(1177-1179)CGC>CAC	p.R393H		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	393	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)												0.101562	8.577994	28.852334	13	115	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.148)	Missense_Mutation	SNP	96160791	96160791	9604	6	G	A	A	38	38	MANEA	A	1	1
KLHL32	114792	broad.mit.edu	36	6	97639862	97639862	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:97639862C>T	uc010kcm.1	+	c.551C>T	c.(550-552)ACG>ATG	p.T184M	KLHL32_uc003poy.2_Missense_Mutation_p.T184M|KLHL32_uc003poz.2_Intron|KLHL32_uc003ppa.2_Non-coding_Transcript	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	184										ovary(3)	3		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)												0.324675	138.902055	143.100255	50	104	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0558)	Missense_Mutation	SNP	97639862	97639862	8699	6	C	T	T	19	19	KLHL32	T	1	1
ZAN	7455	broad.mit.edu	36	7	100193804	100193804	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100193804G>A	uc003uwj.1	+	c.3353G>A	c.(3352-3354)CGC>CAC	p.R1118H	ZAN_uc003uwk.1_Missense_Mutation_p.R1118H|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1118	VWFC 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.211765	39.505936	46.033891	18	67	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Missense_Mutation	SNP	100193804	100193804	18096	7	G	A	A	38	38	ZAN	A	1	1
ZAN	7455	broad.mit.edu	36	7	100220270	100220270	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100220270G>A	uc003uwj.1	+	c.6712G>A	c.(6712-6714)GCC>ACC	p.A2238T	ZAN_uc003uwk.1_Missense_Mutation_p.A2238T|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2238	Extracellular (Potential).|TIL 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.233333	45.353466	51.19847	21	69	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Missense_Mutation	SNP	100220270	100220270	18096	7	G	A	A	38	38	ZAN	A	1	1
MUC17	140453	broad.mit.edu	36	7	100450159	100450159	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100450159C>T	uc003uxp.1	+	c.23C>T	c.(22-24)GCG>GTG	p.A8V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17	8						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.192982	45.458605	55.435969	22	92	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100450159	100450159	10368	7	C	T	T	27	27	MUC17	T	1	1
TRIM56	81844	broad.mit.edu	36	7	100519057	100519057	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100519057C>T	uc003uxq.1	+	c.1744C>T	c.(1744-1746)CGC>TGC	p.R582C	TRIM56_uc003uxr.2_Intron|TRIM56_uc010lhp.1_Missense_Mutation_p.R582C	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	582					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					Ovarian(89;1092 1379 22756 38989 39611)								0.166065	73.790469	103.023671	46	231	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100519057	100519057	17076	7	C	T	T	27	27	TRIM56	T	1	1
EMID2	136227	broad.mit.edu	36	7	100850035	100850035	+	Silent	SNP	G	C	C			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100850035G>C	uc010lhy.1	+	c.216G>C	c.(214-216)TCG>TCC	p.S72S	EMID2_uc003uyo.1_Silent_p.S72S	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	72	EMI.					collagen				ovary(1)	1	Lung NSC(181;0.215)													0.232558	12.519102	15.247391	10	33	GG		KEEP	---	---	---	---	capture			Silent	SNP	100850035	100850035	5284	7	G	C	C	39	39	EMID2	C	3	3
LRWD1	222229	broad.mit.edu	36	7	101896425	101896425	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:101896425G>A	uc003uzn.1	+	c.1139G>A	c.(1138-1140)CGT>CAT	p.R380H	LRWD1_uc003uzo.1_Missense_Mutation_p.R228H	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	380					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding				0														0.25	21.733761	24.220659	11	33	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101896425	101896425	9423	7	G	A	A	40	40	LRWD1	A	1	1
PSMC2	5701	broad.mit.edu	36	7	102791093	102791093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102791093C>T	uc003vbs.1	+	c.562C>T	c.(562-564)CGA>TGA	p.R188*	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0														0.1875	66.173944	80.790359	30	130	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	102791093	102791093	13139	7	C	T	T	27	27	PSMC2	T	5	1
RINT1	60561	broad.mit.edu	36	7	104974943	104974943	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:104974943C>T	uc003vda.1	+	c.766C>T	c.(766-768)CGA>TGA	p.R256*	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	256	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4														0.204176	181.986232	216.913241	88	343	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	104974943	104974943	13853	7	C	T	T	31	31	RINT1	T	5	1
PIK3CG	5294	broad.mit.edu	36	7	106295475	106295475	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106295475C>T	uc003vdv.2	+	c.233C>T	c.(232-234)GCG>GTG	p.A78V	PIK3CG_uc003vdu.1_Missense_Mutation_p.A78V|PIK3CG_uc003vdw.1_Missense_Mutation_p.A78V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	78					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.225806	44.23826	50.660712	21	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106295475	106295475	12340	7	C	T	T	27	27	PIK3CG	T	1	1
DNAJB9	4189	broad.mit.edu	36	7	108000791	108000791	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:108000791C>T	uc003vfn.1	+	c.430C>T	c.(430-432)CGC>TGC	p.R144C		NM_012328	NP_036460	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	144					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0														0.221498	155.534941	177.450713	68	239	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108000791	108000791	4810	7	C	T	T	19	19	DNAJB9	T	1	1
CFTR	1080	broad.mit.edu	36	7	116958264	116958264	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116958264C>T	uc003vjd.1	+	c.349C>T	c.(349-351)CGC>TGC	p.R117C		NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	117	ABC transmembrane type-1 1.|Extracellular (Potential).		R -> H (in CF and CBAVD).|R -> C (in CF).|R -> L (in CF).|R -> P (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)				Bumetanide(DB00887)|Glibenclamide(DB01016)									0.264957	79.575342	85.415409	31	86	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000534)		Missense_Mutation	SNP	116958264	116958264	3427	7	C	T	T	19	19	CFTR	T	1	1
CFTR	1080	broad.mit.edu	36	7	117019736	117019736	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:117019736C>T	uc003vjd.1	+	c.2279C>T	c.(2278-2280)ACG>ATG	p.T760M		NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	760	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)				Bumetanide(DB00887)|Glibenclamide(DB01016)									0.169014	23.357762	30.720067	12	59	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000534)		Missense_Mutation	SNP	117019736	117019736	3427	7	C	T	T	19	19	CFTR	T	1	1
CFTR	1080	broad.mit.edu	36	7	117094287	117094287	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:117094287C>T	uc003vjd.1	+	c.4332C>T	c.(4330-4332)TCC>TCT	p.S1444S		NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1444	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00148)|all_lung(10;0.00171)				Bumetanide(DB00887)|Glibenclamide(DB01016)									0.173913	43.030836	54.570725	20	95	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.000534)		Silent	SNP	117094287	117094287	3427	7	C	T	T	23	23	CFTR	T	1	1
FLNC	2318	broad.mit.edu	36	7	128264981	128264981	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128264981C>T	uc003vnz.2	+	c.905C>T	c.(904-906)ACG>ATG	p.T302M	FLNC_uc003voa.2_Missense_Mutation_p.T302M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	302	Filamin 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.302326	35.36789	36.862703	13	30	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128264981	128264981	6177	7	C	T	T	19	19	FLNC	T	1	1
TNPO3	23534	broad.mit.edu	36	7	128417275	128417275	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:128417275C>T	uc010lly.1	-	c.1576G>A	c.(1576-1578)GTT>ATT	p.V526I	TNPO3_uc003vol.1_Missense_Mutation_p.V492I|TNPO3_uc003vom.1_Missense_Mutation_p.V426I|TNPO3_uc010llz.1_Missense_Mutation_p.V492I	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	492					protein transport	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						Pancreas(147;583 2585 39696 52331)								0.242009	124.962953	138.261408	53	166	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128417275	128417275	16878	7	C	T	T	19	19	TNPO3	T	1	1
AKR1B10	57016	broad.mit.edu	36	7	133867284	133867284	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:133867284G>A	uc003vrr.1	+	c.319G>A	c.(319-321)GTC>ATC	p.V107I		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	107					cellular aldehyde metabolic process|digestion|oxidation-reduction process|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding				0														0.21513	196.904969	228.599572	91	332	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	133867284	133867284	470	7	G	A	A	40	40	AKR1B10	A	1	1
WDR91	29062	broad.mit.edu	36	7	134521497	134521497	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:134521497G>A	uc003vsp.1	-	c.2190C>T	c.(2188-2190)ACC>ACT	p.T730T	WDR91_uc010lmq.1_Silent_p.T319T|WDR91_uc010lmr.1_Non-coding_Transcript	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	730	WD 7.									breast(2)|ovary(1)	3														0.181818	66.859995	82.544711	30	135	GG		KEEP	---	---	---	---	capture			Silent	SNP	134521497	134521497	17912	7	G	A	A	39	39	WDR91	A	1	1
SVOPL	136306	broad.mit.edu	36	7	137956378	137956378	+	Missense_Mutation	SNP	C	T	T	rs61749304	unknown	TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:137956378C>T	uc003vue.1	-	c.850G>A	c.(850-852)GGC>AGC	p.G284S	SVOPL_uc003vud.1_Non-coding_Transcript	NM_174959	NP_777619	Q8N434	SVOPL_HUMAN	SVOP-like isoform 2	436	Helical; (Potential).				transmembrane transport	integral to membrane	transporter activity				0														0.164835	31.367302	41.070105	15	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137956378	137956378	15944	7	C	T	T	23	23	SVOPL	T	1	1
UBN2	254048	broad.mit.edu	36	7	138596581	138596581	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:138596581C>T	uc003vuu.2	+	c.700C>T	c.(700-702)CGT>TGT	p.R234C	UBN2_uc003vuv.2_Missense_Mutation_p.R40C	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	317	Lys-rich.									ovary(1)	1														0.165217	30.850609	43.096549	19	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	138596581	138596581	17451	7	C	T	T	19	19	UBN2	T	1	1
TBXAS1	6916	broad.mit.edu	36	7	139301767	139301767	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139301767G>A	uc003vvh.1	+	c.583G>A	c.(583-585)GCC>ACC	p.A195T	TBXAS1_uc010lne.1_Missense_Mutation_p.A127T|TBXAS1_uc003vvi.1_Missense_Mutation_p.P195T|TBXAS1_uc003vvj.1_Missense_Mutation_p.P195T	NM_001061	NP_001052	P24557	THAS_HUMAN	thromboxane A synthase 1 isoform TXS-I	194	Cytoplasmic (Potential).			A -> P (in Ref. 2; AAA60618, 4; AAC01761, 5; AAF99269/AAF99270/AAF99271/AAF99272/ AAF99273/AAF99274/AAF99275/AAF99276/ AAF99277/AAF99278/AAF99279 and 7; AAA36742).	hormone biosynthetic process|oxidation-reduction process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)													0.233645	164.168879	185.014542	75	246	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139301767	139301767	16190	7	G	A	A	38	38	TBXAS1	A	1	1
MGAM	8972	broad.mit.edu	36	7	141354866	141354866	+	Silent	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141354866G>T	uc003vwy.1	+	c.219G>T	c.(217-219)ACG>ACT	p.T73T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	73	Ser/Thr-rich.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.176923	48.659917	61.445578	23	107	GG		KEEP	---	---	---	---	capture			Silent	SNP	141354866	141354866	9931	7	G	T	T	39	39	MGAM	T	3	3
TRYX3	136541	broad.mit.edu	36	7	141601532	141601532	+	Missense_Mutation	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:141601532T>C	uc003vxb.1	-	c.256A>G	c.(256-258)AAG>GAG	p.K86E	TRYX3_uc003vxc.2_Missense_Mutation_p.K86E	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3	86	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)													0.214286	200.438178	225.746203	72	264	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141601532	141601532	17155	7	T	C	C	62	62	TRYX3	C	4	4
EPHB6	2051	broad.mit.edu	36	7	142278127	142278127	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142278127G>A	uc003wbq.1	+	c.2601G>A	c.(2599-2601)CCG>CCA	p.P867P	EPHB6_uc003wbr.1_Silent_p.P867P|EPHB6_uc003wbs.1_Silent_p.P590P|EPHB6_uc003wbt.1_Silent_p.P356P|EPHB6_uc003wbu.1_Silent_p.P590P|EPHB6_uc003wbv.1_Silent_p.P266P	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	882	Poly-Pro.|Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.17744	243.039004	320.411224	140	649	GG		KEEP	---	---	---	---	capture			Silent	SNP	142278127	142278127	5371	7	G	A	A	38	38	EPHB6	A	1	1
TRPV5	56302	broad.mit.edu	36	7	142315923	142315923	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142315923C>T	uc003wby.1	-	c.2069G>A	c.(2068-2070)CGG>CAG	p.R690Q		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	690	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.183246	73.720387	91.701241	35	156	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142315923	142315923	17150	7	C	T	T	23	23	TRPV5	T	1	1
TRPV5	56302	broad.mit.edu	36	7	142320037	142320037	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142320037C>T	uc003wby.1	-	c.1521G>A	c.(1519-1521)GCG>GCA	p.A507A		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	507	Helical; (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.198529	59.711089	71.16882	27	109	CC		KEEP	---	---	---	---	capture			Silent	SNP	142320037	142320037	17150	7	C	T	T	19	19	TRPV5	T	1	1
CASP2	835	broad.mit.edu	36	7	142707504	142707504	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142707504G>A	uc003wco.1	+	c.962G>A	c.(961-963)CGT>CAT	p.R321H	CASP2_uc003wcp.1_3'UTR|CASP2_uc003wcq.1_Non-coding_Transcript	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	321				QNKPKMFFIQACRG -> EEVTSLSILSAFVT (in Ref. 10; BAD92877).	apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding				0	Melanoma(164;0.059)									155				0.25	79.439205	86.710956	32	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142707504	142707504	2790	7	G	A	A	40	40	CASP2	A	1	1
CLCN1	1180	broad.mit.edu	36	7	142749154	142749154	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142749154G>A	uc003wcr.1	+	c.1593G>A	c.(1591-1593)GCG>GCA	p.A531A		NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	531					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.230769	79.721179	89.20591	33	110	GG		KEEP	---	---	---	---	capture			Silent	SNP	142749154	142749154	3598	7	G	A	A	38	38	CLCN1	A	1	1
ZYX	7791	broad.mit.edu	36	7	142796086	142796086	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142796086C>T	uc003wcw.1	+	c.1419C>T	c.(1417-1419)TGC>TGT	p.C473C	ZYX_uc003wcx.1_Silent_p.C473C|ZYX_uc003wcy.1_Silent_p.C104C	NM_001010972	NP_003452	Q15942	ZYX_HUMAN	zyxin	473	LIM zinc-binding 2.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)													0.205128	85.913237	101.627788	40	155	CC		KEEP	---	---	---	---	capture			Silent	SNP	142796086	142796086	18860	7	C	T	T	27	27	ZYX	T	1	1
FAM115A	9747	broad.mit.edu	36	7	143204349	143204349	+	Missense_Mutation	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143204349G>T	uc003wdo.1	-	c.286C>A	c.(286-288)CCA>ACA	p.P96T	FAM115A_uc003wdp.1_Missense_Mutation_p.P96T	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	96											0	Melanoma(164;0.0903)													0.232143	92.693462	103.695485	39	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143204349	143204349	5602	7	G	T	T	43	43	FAM115A	T	3	3
NOBOX	135935	broad.mit.edu	36	7	143727813	143727813	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143727813G>A	uc003wen.1	-	c.1124C>T	c.(1123-1125)GCA>GTA	p.A375V		NM_001080413	NP_001073882			NOBOX oogenesis homeobox											ovary(1)	1	Melanoma(164;0.14)													0.258065	38.06614	41.358569	16	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143727813	143727813	10915	7	G	A	A	46	46	NOBOX	A	2	2
CNTNAP2	26047	broad.mit.edu	36	7	147231691	147231691	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:147231691C>T	uc003weu.1	+	c.2200C>T	c.(2200-2202)CGC>TGC	p.R734C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	734	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)												0.253165	47.562227	51.933336	20	59	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		Missense_Mutation	SNP	147231691	147231691	3785	7	C	T	T	19	19	CNTNAP2	T	1	1
CUL1	8454	broad.mit.edu	36	7	148058226	148058226	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:148058226G>A	uc010lpg.1	+	c.79G>A	c.(79-81)GGC>AGC	p.G27S	CUL1_uc003wey.1_Missense_Mutation_p.G27S|CUL1_uc003wez.1_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	27					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)													0.219124	133.816507	152.041104	55	196	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		Missense_Mutation	SNP	148058226	148058226	4214	7	G	A	A	39	39	CUL1	A	1	1
ZNF862	643641	broad.mit.edu	36	7	149176138	149176138	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:149176138C>T	uc010lpn.1	+	c.623C>T	c.(622-624)GCG>GTG	p.A208V	ZNF862_uc003wgm.2_Non-coding_Transcript	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	208	TTF-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1														0.176	42.182064	54.551749	22	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	149176138	149176138	18798	7	C	T	T	27	27	ZNF862	T	1	1
ABP1	26	broad.mit.edu	36	7	150184559	150184559	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150184559C>T	uc003wia.1	+	c.68C>T	c.(67-69)CCG>CTG	p.P23L	ABP1_uc003why.1_Missense_Mutation_p.P23L|ABP1_uc003whz.1_Missense_Mutation_p.P23L	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	23					amine metabolic process|oxidation-reduction process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)	4	all_neural(206;0.219)				Amiloride(DB00594)|Spermine(DB00127)	Pancreas(195;1227 3054 24912 28503)								0.296296	102.447218	107.458258	40	95	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150184559	150184559	99	7	C	T	T	23	23	ABP1	T	1	1
AGAP3	116988	broad.mit.edu	36	7	150466238	150466238	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150466238G>A	uc003wjg.1	+	c.1571G>A	c.(1570-1572)CGC>CAC	p.R524H	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	488	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3														0.173913	15.018485	19.599474	8	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150466238	150466238	371	7	G	A	A	38	38	AGAP3	A	1	1
PTPRN2	5799	broad.mit.edu	36	7	157652698	157652698	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:157652698G>A	uc003wno.1	-	c.596C>T	c.(595-597)ACG>ATG	p.T199M	PTPRN2_uc003wnp.1_Missense_Mutation_p.T182M|PTPRN2_uc003wnq.1_Missense_Mutation_p.T199M|PTPRN2_uc003wnr.1_Missense_Mutation_p.T161M	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	199	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)												0.171429	33.391115	44.103715	18	87	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	Missense_Mutation	SNP	157652698	157652698	13265	7	G	A	A	40	40	PTPRN2	A	1	1
MACC1	346389	broad.mit.edu	36	7	20160476	20160476	+	Silent	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:20160476A>G	uc003sus.2	-	c.2211T>C	c.(2209-2211)GCT>GCC	p.A737A	MACC1_uc010kug.1_Silent_p.A737A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	737					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)	2														0.206061	89.357484	102.573471	34	131	AA		KEEP	---	---	---	---	capture			Silent	SNP	20160476	20160476	9520	7	A	G	G	7	7	MACC1	G	4	4
DNAH11	8701	broad.mit.edu	36	7	21710629	21710629	+	Missense_Mutation	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:21710629A>G	uc003svc.1	+	c.6347A>G	c.(6346-6348)GAC>GGC	p.D2116G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2116					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.222222	51.151991	57.541304	20	70	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21710629	21710629	4781	7	A	G	G	10	10	DNAH11	G	4	4
C7orf46	340277	broad.mit.edu	36	7	23695580	23695580	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23695580C>T	uc003swo.2	+	c.407C>T	c.(406-408)GCG>GTG	p.A136V	C7orf46_uc003swq.2_Missense_Mutation_p.A136V|C7orf46_uc003swr.2_Missense_Mutation_p.A78V|C7orf46_uc003swp.2_Non-coding_Transcript|C7orf46_uc010kup.1_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	136											0														0.195122	69.272617	83.436966	32	132	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23695580	23695580	2503	7	C	T	T	27	27	C7orf46	T	1	1
CARD11	84433	broad.mit.edu	36	7	2925648	2925648	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2925648G>A	uc003smv.2	-	c.2394C>T	c.(2392-2394)GAC>GAT	p.D798D		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	798					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)								1492				0.242991	60.762335	67.164724	26	81	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Silent	SNP	2925648	2925648	2764	7	G	A	A	40	40	CARD11	A	1	1
NOD1	10392	broad.mit.edu	36	7	30458771	30458771	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30458771G>A	uc003tav.1	-	c.787C>T	c.(787-789)CGG>TGG	p.R263W	NOD1_uc010kvs.1_Silent_p.S58S	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	263	NACHT.				activation of caspase activity|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)	1														0.23	98.367034	111.730197	46	154	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30458771	30458771	10919	7	G	A	A	38	38	NOD1	A	1	1
CRHR2	1395	broad.mit.edu	36	7	30671241	30671241	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30671241G>A	uc003tbp.2	-	c.594C>T	c.(592-594)CTC>CTT	p.L198L	CRHR2_uc003tbn.2_Silent_p.L171L|CRHR2_uc010kvw.1_Silent_p.L171L|CRHR2_uc010kvx.1_Silent_p.L170L|CRHR2_uc010kvy.1_Silent_p.L7L|CRHR2_uc003tbo.2_Silent_p.L157L	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	171	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			ovary(1)	1														0.161017	36.25672	49.153718	19	99	GG		KEEP	---	---	---	---	capture			Silent	SNP	30671241	30671241	4011	7	G	A	A	37	37	CRHR2	A	1	1
C7orf16	10842	broad.mit.edu	36	7	31701732	31701732	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:31701732G>A	uc003tcl.1	+	c.207G>A	c.(205-207)CCG>CCA	p.P69P		NM_006658	NP_006649	O96001	GSUB_HUMAN	G-substrate isoform 1	69					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction				ovary(2)|central_nervous_system(1)	3														0.208333	121.414921	140.327419	50	190	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.216)		Silent	SNP	31701732	31701732	2485	7	G	A	A	39	39	C7orf16	A	1	1
PDE1C	5137	broad.mit.edu	36	7	31781810	31781810	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:31781810C>T	uc003tco.1	-	c.2133G>A	c.(2131-2133)ACG>ACA	p.T711T	PDE1C_uc003tcm.1_Silent_p.T651T|PDE1C_uc003tcn.1_Silent_p.T651T	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent	651					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1														0.159574	25.761097	36.141648	15	79	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.216)		Silent	SNP	31781810	31781810	12056	7	C	T	T	19	19	PDE1C	T	1	1
PDE1C	5137	broad.mit.edu	36	7	31831009	31831009	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:31831009G>A	uc003tco.1	-	c.1583C>T	c.(1582-1584)TCG>TTG	p.S528L	PDE1C_uc003tcm.1_Missense_Mutation_p.S468L|PDE1C_uc003tcn.1_Missense_Mutation_p.S468L|PDE1C_uc003tcr.1_Missense_Mutation_p.S468L|PDE1C_uc003tcs.1_Missense_Mutation_p.S468L	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent	468	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1														0.15331	73.296623	106.327424	44	243	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(11;0.216)		Missense_Mutation	SNP	31831009	31831009	12056	7	G	A	A	37	37	PDE1C	A	1	1
BMPER	168667	broad.mit.edu	36	7	34091944	34091944	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:34091944C>T	uc003tdw.1	+	c.1460C>T	c.(1459-1461)CCG>CTG	p.P487L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	487	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.184615	47.71739	59.85374	24	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34091944	34091944	1493	7	C	T	T	23	23	BMPER	T	1	1
HERPUD2	64224	broad.mit.edu	36	7	35641365	35641365	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:35641365C>T	uc003tet.1	-	c.846G>A	c.(844-846)ACG>ACA	p.T282T	HERPUD2_uc003tes.2_Silent_p.T282T	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	282					response to unfolded protein	integral to membrane				ovary(3)	3														0.220736	146.084778	167.558079	66	233	CC		KEEP	---	---	---	---	capture			Silent	SNP	35641365	35641365	7347	7	C	T	T	19	19	HERPUD2	T	1	1
TXNDC3	51314	broad.mit.edu	36	7	37883055	37883055	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:37883055C>T	uc003tfn.1	+	c.915C>T	c.(913-915)CCC>CCT	p.P305P		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	305					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						Ovarian(108;903 1537 27096 29907 47400)								0.190476	54.142506	65.414575	24	102	CC		KEEP	---	---	---	---	capture			Silent	SNP	37883055	37883055	17354	7	C	T	T	23	23	TXNDC3	T	1	1
AMPH	273	broad.mit.edu	36	7	38390958	38390958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:38390958G>A	uc003tgu.1	-	c.2074C>T	c.(2074-2076)CGA>TGA	p.R692*	AMPH_uc003tgt.1_Nonsense_Mutation_p.R577*|AMPH_uc003tgv.1_Nonsense_Mutation_p.R650*	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	692	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.202703	137.842049	162.133659	60	236	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	38390958	38390958	591	7	G	A	A	39	39	AMPH	A	5	1
POU6F2	11281	broad.mit.edu	36	7	39457807	39457807	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:39457807G>A	uc003thb.1	+	c.1384G>A	c.(1384-1386)GTG>ATG	p.V462M		NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU domain, class 6, transcription factor 2	462					central nervous system development|ganglion mother cell fate determination|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1														0.135135	6.847976	11.623987	5	32	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39457807	39457807	12715	7	G	A	A	40	40	POU6F2	A	1	1
GLI3	2737	broad.mit.edu	36	7	42051653	42051653	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:42051653C>T	uc003thu.2	-	c.681G>A	c.(679-681)GCG>GCA	p.A227A		NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	227					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8									p.A227A(EVSAT-Tumor)	806				0.181034	43.017198	54.100296	21	95	CC		KEEP	---	---	---	---	capture			Silent	SNP	42051653	42051653	6707	7	C	T	T	27	27	GLI3	T	1	1
HECW1	23072	broad.mit.edu	36	7	43317928	43317928	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43317928G>A	uc003tid.1	+	c.69G>A	c.(67-69)GCG>GCA	p.A23A	HECW1_uc003tie.1_Silent_p.A55A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	23					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.214912	106.256921	123.366914	49	179	GG		KEEP	---	---	---	---	capture			Silent	SNP	43317928	43317928	7325	7	G	A	A	40	40	HECW1	A	1	1
HECW1	23072	broad.mit.edu	36	7	43451320	43451320	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43451320C>T	uc003tid.1	+	c.2024C>T	c.(2023-2025)GCG>GTG	p.A675V		NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	675	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13									p.A675V(NCIH358-Tumor)	944				0.222222	38.730872	44.464844	18	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43451320	43451320	7325	7	C	T	T	27	27	HECW1	T	1	1
HECW1	23072	broad.mit.edu	36	7	43451468	43451468	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43451468C>T	uc003tid.1	+	c.2172C>T	c.(2170-2172)AGC>AGT	p.S724S		NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	724					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.171429	65.37097	86.805643	36	174	CC		KEEP	---	---	---	---	capture			Silent	SNP	43451468	43451468	7325	7	C	T	T	27	27	HECW1	T	1	1
AEBP1	165	broad.mit.edu	36	7	44119779	44119779	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44119779G>A	uc003tkb.1	+	c.2871G>A	c.(2869-2871)GCG>GCA	p.A957A	AEBP1_uc003tkc.2_Silent_p.A532A|AEBP1_uc003tkd.1_Silent_p.A207A	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	957	Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|regulation of transcription, DNA-dependent|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.201923	92.55591	109.712292	42	166	GG		KEEP	---	---	---	---	capture			Silent	SNP	44119779	44119779	350	7	G	A	A	39	39	AEBP1	A	1	1
OGDH	4967	broad.mit.edu	36	7	44651470	44651470	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44651470G>A	uc003tln.1	+	c.242G>A	c.(241-243)CGC>CAC	p.R81H	OGDH_uc003tlo.1_5'UTR|OGDH_uc003tlp.1_5'UTR|OGDH_uc003tlm.1_Missense_Mutation_p.R81H	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase	81					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)	1					NADH(DB00157)									0.1875	213.689094	263.3909	102	442	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44651470	44651470	11244	7	G	A	A	38	38	OGDH	A	1	1
ZMIZ2	83637	broad.mit.edu	36	7	44771592	44771592	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44771592G>A	uc003tlr.1	+	c.2131G>A	c.(2131-2133)GTG>ATG	p.V711M	ZMIZ2_uc003tlq.1_Missense_Mutation_p.V653M|ZMIZ2_uc003tls.1_Missense_Mutation_p.V685M|ZMIZ2_uc003tlt.1_Missense_Mutation_p.V334M|ZMIZ2_uc010kyj.1_Missense_Mutation_p.V233M|ZMIZ2_uc003tlu.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	711					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						NSCLC(20;604 852 1948 16908 50522)								0.140351	12.761868	19.879248	8	49	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44771592	44771592	18288	7	G	A	A	40	40	ZMIZ2	A	1	1
MYO1G	64005	broad.mit.edu	36	7	44972878	44972878	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44972878C>T	uc003tmh.1	-	c.1867G>A	c.(1867-1869)GCA>ACA	p.A623T	MYO1G_uc003tmf.1_Missense_Mutation_p.A66T|MYO1G_uc003tmg.1_Missense_Mutation_p.A385T|MYO1G_uc010kym.1_Missense_Mutation_p.A508T|MYO1G_uc003tmi.1_Missense_Mutation_p.A535T	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	623	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|pancreas(1)	3														0.222798	195.043476	222.326347	86	300	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44972878	44972878	10469	7	C	T	T	27	27	MYO1G	T	1	1
TBRG4	9238	broad.mit.edu	36	7	45110270	45110270	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45110270C>T	uc003tmv.1	-	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T	TBRG4_uc003tmu.1_Missense_Mutation_p.A165T|TBRG4_uc003tmw.1_Intron|TBRG4_uc003tmx.1_Intron	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	340					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0														0.232558	20.424098	23.244624	10	33	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45110270	45110270	16175	7	C	T	T	27	27	TBRG4	T	1	1
ADCY1	107	broad.mit.edu	36	7	45654810	45654810	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45654810G>A	uc003tne.2	+	c.1037G>A	c.(1036-1038)CGC>CAC	p.R346H	ADCY1_uc003tnd.2_Missense_Mutation_p.R121H	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	brain adenylate cyclase 1	346	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.221154	53.996166	61.420233	23	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45654810	45654810	293	7	G	A	A	38	38	ADCY1	A	1	1
IGFBP3	3486	broad.mit.edu	36	7	45923507	45923507	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45923507C>T	uc003tnr.1	-	c.478G>A	c.(478-480)GTC>ATC	p.V160I	IGFBP3_uc003tnq.1_Non-coding_Transcript|IGFBP3_uc003tns.1_Missense_Mutation_p.V154I|IGFBP3_uc003tnt.1_Missense_Mutation_p.V57I	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	154	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	insulin-like growth factor binding protein complex|nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)	2					Mecasermin(DB01277)							OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.214953	104.868659	120.894641	46	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45923507	45923507	7881	7	C	T	T	19	19	IGFBP3	T	1	1
PKD1L1	168507	broad.mit.edu	36	7	47861126	47861126	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47861126G>A	uc003tny.1	-	c.4738C>T	c.(4738-4740)CGG>TGG	p.R1580W		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1580	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.15444	72.063841	101.598987	40	219	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47861126	47861126	12388	7	G	A	A	37	37	PKD1L1	A	1	1
PKD1L1	168507	broad.mit.edu	36	7	47883644	47883644	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47883644C>T	uc003tny.1	-	c.3631G>A	c.(3631-3633)GTC>ATC	p.V1211I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1211	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.210526	123.065017	143.682627	56	210	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47883644	47883644	12388	7	C	T	T	19	19	PKD1L1	T	1	1
PKD1L1	168507	broad.mit.edu	36	7	47892046	47892046	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:47892046G>A	uc003tny.1	-	c.2968C>T	c.(2968-2970)CGG>TGG	p.R990W		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	990	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.197044	84.288205	101.642758	40	163	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47892046	47892046	12388	7	G	A	A	40	40	PKD1L1	A	1	1
ABCA13	154664	broad.mit.edu	36	7	48305985	48305985	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:48305985C>T	uc003toq.1	+	c.8933C>T	c.(8932-8934)ACG>ATG	p.T2978M	ABCA13_uc010kys.1_Missense_Mutation_p.T107M	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3033					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.163009	186.527989	255.412159	104	534	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48305985	48305985	32	7	C	T	T	19	19	ABCA13	T	1	1
VWC2	375567	broad.mit.edu	36	7	49812927	49812927	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:49812927G>A	uc003tot.1	+	c.771G>A	c.(769-771)ACG>ACA	p.T257T		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	257	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0														0.186747	68.024735	83.28564	31	135	GG		KEEP	---	---	---	---	capture			Silent	SNP	49812927	49812927	17814	7	G	A	A	39	39	VWC2	A	1	1
TNRC18	84629	broad.mit.edu	36	7	5314449	5314449	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5314449C>T	uc003soi.2	-	c.8721G>A	c.(8719-8721)TCG>TCA	p.S2907S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2907	BAH.						DNA binding				0		Ovarian(82;0.142)												0.1875	19.44751	23.836176	9	39	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	Silent	SNP	5314449	5314449	16880	7	C	T	T	27	27	TNRC18	T	1	1
LANCL2	55915	broad.mit.edu	36	7	55460583	55460583	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55460583C>T	uc003tqp.1	+	c.1151C>T	c.(1150-1152)ACG>ATG	p.T384M		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	384					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)	1	Breast(14;0.0379)													0.18232	66.987688	84.129339	33	148	CC		KEEP	---	---	---	---	capture	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		Missense_Mutation	SNP	55460583	55460583	8944	7	C	T	T	19	19	LANCL2	T	1	1
GBAS	2631	broad.mit.edu	36	7	56030121	56030121	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:56030121G>A	uc003tre.1	+	c.658G>A	c.(658-660)GTC>ATC	p.V220I	GBAS_uc003trf.1_Missense_Mutation_p.V181I	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	220						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)													0.185542	151.836124	190.311766	77	338	GG		KEEP	---	---	---	---	capture	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		Missense_Mutation	SNP	56030121	56030121	6535	7	G	A	A	40	40	GBAS	A	1	1
FSCN1	6624	broad.mit.edu	36	7	5611551	5611551	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5611551C>T	uc003sou.1	+	c.1402C>T	c.(1402-1404)CGC>TGC	p.R468C	FSCN1_uc003sov.1_Missense_Mutation_p.R190C|FSCN1_uc003sow.1_3'UTR	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	468					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)												0.235294	27.538793	30.767214	12	39	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	Missense_Mutation	SNP	5611551	5611551	6317	7	C	T	T	27	27	FSCN1	T	1	1
RNF216	54476	broad.mit.edu	36	7	5629127	5629127	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:5629127C>T	uc003sox.1	-	c.2662G>A	c.(2662-2664)GTG>ATG	p.V888M	RNF216_uc010ksz.1_Missense_Mutation_p.V453M|RNF216_uc010kta.1_Missense_Mutation_p.V453M|RNF216_uc003soy.1_Missense_Mutation_p.V831M|RNF216_uc003soz.1_Missense_Mutation_p.V453M	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform a	831	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)												0.137741	71.52347	117.592549	50	313	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	Missense_Mutation	SNP	5629127	5629127	13958	7	C	T	T	19	19	RNF216	T	1	1
EIF2AK1	27102	broad.mit.edu	36	7	6053168	6053168	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6053168C>T	uc003spp.1	-	c.530G>A	c.(529-531)GGA>GAA	p.G177E	EIF2AK1_uc003spq.1_Missense_Mutation_p.G177E|EIF2AK1_uc003spr.1_5'Flank	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	177	ATP (By similarity).|Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)								253				0.242424	121.298109	133.27857	48	150	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	Missense_Mutation	SNP	6053168	6053168	5185	7	C	T	T	30	30	EIF2AK1	T	2	2
DAGLB	221955	broad.mit.edu	36	7	6416374	6416374	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6416374C>T	uc003sqa.1	-	c.1732G>A	c.(1732-1734)GAC>AAC	p.D578N	DAGLB_uc003spy.1_Missense_Mutation_p.D124N|DAGLB_uc003spz.1_Missense_Mutation_p.D275N|DAGLB_uc003sqb.1_Missense_Mutation_p.D297N|DAGLB_uc003sqc.1_Missense_Mutation_p.D297N|DAGLB_uc003sqd.2_Missense_Mutation_p.D537N	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	578	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)												0.338983	54.380031	55.733383	20	39	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	Missense_Mutation	SNP	6416374	6416374	4394	7	C	T	T	31	31	DAGLB	T	1	1
VKORC1L1	154807	broad.mit.edu	36	7	65056621	65056621	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:65056621G>A	uc003tul.1	+	c.430G>A	c.(430-432)GTC>ATC	p.V144I	VKORC1L1_uc003tum.1_5'Flank	NM_173517	NP_775788	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit	144	Helical; (Potential).					integral to membrane					0		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)									0.208738	96.025019	112.196869	43	163	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65056621	65056621	17740	7	G	A	A	40	40	VKORC1L1	A	1	1
GUSB	2990	broad.mit.edu	36	7	65078586	65078586	+	Missense_Mutation	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:65078586G>T	uc003tun.1	-	c.763C>A	c.(763-765)CTG>ATG	p.L255M	GUSB_uc010kzw.1_Missense_Mutation_p.L88M	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta	255					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0														0.111111	17.316297	38.828581	16	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65078586	65078586	7182	7	G	T	T	35	35	GUSB	T	3	3
C7orf26	79034	broad.mit.edu	36	7	6606284	6606284	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:6606284G>A	uc003sqo.1	+	c.880G>A	c.(880-882)GTC>ATC	p.V294I	C7orf26_uc003sqp.1_Missense_Mutation_p.V197I|C7orf26_uc003sqq.1_Missense_Mutation_p.V95I	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	294										ovary(1)	1		Ovarian(82;0.232)												0.275229	75.200315	80.161911	30	79	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	Missense_Mutation	SNP	6606284	6606284	2488	7	G	A	A	40	40	C7orf26	A	1	1
WBSCR17	64409	broad.mit.edu	36	7	70523937	70523937	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:70523937C>T	uc003tvy.1	+	c.872C>T	c.(871-873)TCG>TTG	p.S291L	WBSCR17_uc003tvz.1_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	291	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)												0.210059	161.664015	187.938232	71	267	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70523937	70523937	17836	7	C	T	T	31	31	WBSCR17	T	1	1
CALN1	83698	broad.mit.edu	36	7	71209185	71209185	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:71209185C>T	uc003twb.2	-	c.275G>A	c.(274-276)CGG>CAG	p.R92Q	CALN1_uc003twa.2_Missense_Mutation_p.R50Q|CALN1_uc003twc.2_Missense_Mutation_p.R50Q	NM_031468	NP_113656	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 1	50	EF-hand 1.|Cytoplasmic (Potential).|1 (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding				0		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)												0.17	35.313126	45.615763	17	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71209185	71209185	2708	7	C	T	T	23	23	CALN1	T	1	1
MLXIPL	51085	broad.mit.edu	36	7	72646194	72646194	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72646194C>T	uc003tyn.1	-	c.2496G>A	c.(2494-2496)CCG>CCA	p.P832P	MLXIPL_uc003tyj.1_Silent_p.P211P|MLXIPL_uc003tyk.1_Silent_p.P811P|MLXIPL_uc003tyl.1_Silent_p.P830P|MLXIPL_uc003tym.1_Silent_p.P813P|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_3'UTR	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	832					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glycolysis|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.210526	46.25213	53.613085	20	75	CC		KEEP	---	---	---	---	capture			Silent	SNP	72646194	72646194	10027	7	C	T	T	23	23	MLXIPL	T	1	1
ABHD11	83451	broad.mit.edu	36	7	72789537	72789537	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:72789537G>A	uc003tzb.1	-	c.583C>T	c.(583-585)CGC>TGC	p.R195C	ABHD11_uc003tza.1_Missense_Mutation_p.R82C|ABHD11_uc003tzc.1_Missense_Mutation_p.R188C	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	195							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)												0.201681	107.830035	127.467662	48	190	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72789537	72789537	76	7	G	A	A	39	39	ABHD11	A	1	1
RFC2	5982	broad.mit.edu	36	7	73295446	73295446	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:73295446G>A	uc003uaj.1	-	c.501C>T	c.(499-501)TTC>TTT	p.F167F	RFC2_uc003uak.1_Silent_p.F133F|RFC2_uc010lbp.1_Silent_p.F96F|RFC2_uc003ual.1_Silent_p.F66F	NM_181471	NP_852136	P35250	RFC2_HUMAN	replication factor C 2 isoform 1	167					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.E66D(1)		liver(1)|central_nervous_system(1)	2														0.224	203.246804	229.471837	84	291	GG		KEEP	---	---	---	---	capture			Silent	SNP	73295446	73295446	13716	7	G	A	A	37	37	RFC2	A	1	1
HEATR2	54919	broad.mit.edu	36	7	747030	747030	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:747030C>T	uc010krz.1	+	c.829C>T	c.(829-831)CGT>TGT	p.R277C	HEATR2_uc003siz.2_Missense_Mutation_p.R145C	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	277	HEAT 3.						protein binding				0		Ovarian(82;0.0112)												0.186047	111.130069	138.857528	56	245	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	Missense_Mutation	SNP	747030	747030	7311	7	C	T	T	27	27	HEATR2	T	1	1
CCL26	10344	broad.mit.edu	36	7	75239189	75239189	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:75239189G>A	uc003udt.1	-	c.142C>T	c.(142-144)CGA>TGA	p.R48*		NM_006072	NP_006063	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26 precursor	48					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity				0														0.208696	104.898233	122.958774	48	182	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	75239189	75239189	3023	7	G	A	A	38	38	CCL26	A	5	1
COL28A1	340267	broad.mit.edu	36	7	7538981	7538981	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:7538981C>T	uc003src.1	-	c.51G>A	c.(49-51)ACG>ACA	p.T17T		NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	17					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity				0		Ovarian(82;0.0789)												0.222772	217.430899	245.990344	90	314	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	Silent	SNP	7538981	7538981	3824	7	C	T	T	31	31	COL28A1	T	1	1
HEATR2	54919	broad.mit.edu	36	7	786127	786127	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:786127C>T	uc010krz.1	+	c.2251C>T	c.(2251-2253)CGC>TGC	p.R751C	HEATR2_uc003siz.2_Missense_Mutation_p.R619C|HEATR2_uc003sjb.2_Missense_Mutation_p.R131C|HEATR2_uc003sjc.2_Missense_Mutation_p.R176C	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	751	HEAT 9.						protein binding				0		Ovarian(82;0.0112)												0.121622	9.820767	20.204668	9	65	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	Missense_Mutation	SNP	786127	786127	7311	7	C	T	T	19	19	HEATR2	T	1	1
SEMA3A	10371	broad.mit.edu	36	7	83448594	83448594	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:83448594C>T	uc003uhz.1	-	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	544					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.185185	30.174399	37.70399	15	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83448594	83448594	14510	7	C	T	T	27	27	SEMA3A	T	1	1
GRM3	2913	broad.mit.edu	36	7	86253607	86253607	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86253607C>T	uc003uid.1	+	c.563C>T	c.(562-564)GCC>GTC	p.A188V	GRM3_uc010lef.1_Missense_Mutation_p.A186V|GRM3_uc010leg.1_Missense_Mutation_p.A60V|GRM3_uc010leh.1_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	188	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				ovary(3)|central_nervous_system(2)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GBM(52;969 1098 3139 52280)								0.165242	108.634695	145.959806	58	293	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86253607	86253607	7077	7	C	T	T	26	26	GRM3	T	2	2
ABCB4	5244	broad.mit.edu	36	7	86920205	86920205	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86920205C>T	uc003uiv.1	-	c.527G>A	c.(526-528)CGG>CAG	p.R176Q	ABCB4_uc003uiw.1_Missense_Mutation_p.R176Q|ABCB4_uc003uix.1_Missense_Mutation_p.R176Q|ABCB4_uc003uiy.1_Missense_Mutation_p.R176Q	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	176	ABC transmembrane type-1 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.115226	38.030081	73.461769	28	215	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86920205	86920205	44	7	C	T	T	23	23	ABCB4	T	1	1
TFPI2	7980	broad.mit.edu	36	7	93356362	93356362	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:93356362G>A	uc003unb.1	-	c.381C>T	c.(379-381)TCC>TCT	p.S127S	GNGT1_uc003umx.1_Intron|TFPI2_uc003umy.1_Silent_p.S127S|TFPI2_uc003umz.1_Silent_p.S127S|TFPI2_uc003una.1_Silent_p.S116S|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	127	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)													0.196023	160.765442	191.008972	69	283	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000967)		Silent	SNP	93356362	93356362	16337	7	G	A	A	39	39	TFPI2	A	1	1
COL1A2	1278	broad.mit.edu	36	7	93894974	93894974	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:93894974C>T	uc003ung.1	+	c.3367C>T	c.(3367-3369)CGC>TGC	p.R1123C		NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen	1123				Missing (in Ref. 17; CAA23761).	axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)				Collagenase(DB00048)									0.262548	174.586944	187.794458	68	191	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	93894974	93894974	3816	7	C	T	T	31	31	COL1A2	T	1	1
CASD1	64921	broad.mit.edu	36	7	93984817	93984817	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:93984817C>T	uc003uni.2	+	c.143C>T	c.(142-144)TCG>TTG	p.S48L	CASD1_uc003unh.2_Missense_Mutation_p.S48L|CASD1_uc003unj.2_Missense_Mutation_p.S48L	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	48						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)													0.156682	63.201891	87.617129	34	183	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	93984817	93984817	2783	7	C	T	T	31	31	CASD1	T	1	1
PPP1R9A	55607	broad.mit.edu	36	7	94735828	94735828	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94735828G>A	uc010lfj.1	+	c.2696G>A	c.(2695-2697)CGC>CAC	p.R899H	PPP1R9A_uc003unp.1_Missense_Mutation_p.R877H|PPP1R9A_uc003unq.1_Missense_Mutation_p.R877H|PPP1R9A_uc003unr.1_5'UTR	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	877	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|skin(1)	3	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)													0.177778	63.285961	80.889733	32	148	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	94735828	94735828	12814	7	G	A	A	38	38	PPP1R9A	A	1	1
LMTK2	22853	broad.mit.edu	36	7	97659360	97659360	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:97659360C>T	uc003upd.1	+	c.1647C>T	c.(1645-1647)AGC>AGT	p.S549S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	549					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(8)|pancreas(2)|large_intestine(1)	11	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)									547				0.252427	126.899956	138.369294	52	154	CC		KEEP	---	---	---	---	capture			Silent	SNP	97659360	97659360	9188	7	C	T	T	27	27	LMTK2	T	1	1
TRRAP	8295	broad.mit.edu	36	7	98414370	98414370	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98414370C>T	uc003upp.1	+	c.8520C>T	c.(8518-8520)TAC>TAT	p.Y2840Y	TRRAP_uc003upq.1_Silent_p.Y2822Y|TRRAP_uc003upr.1_Silent_p.Y2539Y	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2840	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)									1847				0.235772	284.937774	316.286446	116	376	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Silent	SNP	98414370	98414370	17152	7	C	T	T	19	19	TRRAP	T	1	1
ZKSCAN5	23660	broad.mit.edu	36	7	98967078	98967078	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98967078G>A	uc003uqv.1	+	c.1790G>A	c.(1789-1791)CGC>CAC	p.R597H	ZKSCAN5_uc010lfx.1_Missense_Mutation_p.R597H|ZKSCAN5_uc003uqw.1_Missense_Mutation_p.R597H|ZKSCAN5_uc003uqx.1_Missense_Mutation_p.R524H|ZKSCAN5_uc003uqy.1_Missense_Mutation_p.R333H	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	597	C2H2-type 6.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)													0.226415	55.444603	62.729917	24	82	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98967078	98967078	18281	7	G	A	A	38	38	ZKSCAN5	A	1	1
CYP3A7	1551	broad.mit.edu	36	7	99151464	99151464	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99151464C>T	uc003uru.1	-	c.523G>A	c.(523-525)GTC>ATC	p.V175I	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.1_Intron|CYP3A5_uc010lgg.1_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	175					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)													0.171429	106.46843	138.605313	54	261	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99151464	99151464	4346	7	C	T	T	19	19	CYP3A7	T	1	1
AP4M1	9179	broad.mit.edu	36	7	99539023	99539023	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99539023C>T	uc003utc.2	+	c.428C>T	c.(427-429)ACG>ATG	p.T143M	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc010lgk.1_Missense_Mutation_p.T68M|AP4M1_uc010lgl.1_Missense_Mutation_p.T136M|AP4M1_uc003utb.2_Missense_Mutation_p.T136M|AP4M1_uc010lgm.1_Missense_Mutation_p.T8M|AP4M1_uc003utd.2_Missense_Mutation_p.T136M|AP4M1_uc003ute.2_De_novo_Start_OutOfFrame|AP4M1_uc003utf.2_Missense_Mutation_p.T8M	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	136					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					Pancreas(174;1182 2812 29595 49511)								0.202749	126.385451	150.255352	59	232	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99539023	99539023	763	7	C	T	T	19	19	AP4M1	T	1	1
STAG3	10734	broad.mit.edu	36	7	99646595	99646595	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99646595C>T	uc003utx.1	+	c.3264C>T	c.(3262-3264)GAC>GAT	p.D1088D	GATS_uc003uty.2_Intron|GATS_uc010lgt.1_Intron|GATS_uc003utz.2_Intron|GATS_uc003uua.2_Intron|STAG3_uc003uub.1_Silent_p.D312D|GATS_uc003uuc.1_3'UTR	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1088					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(3)|skin(2)|lung(1)|kidney(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)									331				0.170306	72.389836	95.934979	39	190	CC		KEEP	---	---	---	---	capture			Silent	SNP	99646595	99646595	15762	7	C	T	T	19	19	STAG3	T	1	1
MSRA	4482	broad.mit.edu	36	8	10214808	10214808	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:10214808C>T	uc003wsx.1	+	c.442C>T	c.(442-444)CGC>TGC	p.R148C	MSRA_uc003wsy.1_Missense_Mutation_p.R82C|MSRA_uc003wsz.1_Missense_Mutation_p.R105C	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	148					methionine metabolic process|oxidation-reduction process|protein modification process|response to oxidative stress		peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	NSCLC(88;1378 1469 30580 49103 52286)								0.255814	28.220739	30.535649	11	32	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10214808	10214808	10280	8	C	T	T	27	27	MSRA	T	1	1
UBR5	51366	broad.mit.edu	36	8	103369611	103369611	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:103369611G>A	uc003ykr.1	-	c.4773C>T	c.(4771-4773)CAC>CAT	p.H1591H	UBR5_uc003yks.1_Silent_p.H1591H	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1591					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(5)|ovary(3)|large_intestine(3)|kidney(1)|central_nervous_system(1)	13	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)					Ovarian(131;96 1741 5634 7352 27489)				1024				0.425373	165.431235	166.085949	57	77	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		Silent	SNP	103369611	103369611	17463	8	G	A	A	40	40	UBR5	A	1	1
ZFPM2	23414	broad.mit.edu	36	8	106882740	106882740	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:106882740C>T	uc003ymd.1	+	c.1254C>T	c.(1252-1254)AGC>AGT	p.S418S		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	418					blood coagulation|transcription, DNA-dependent	nucleoplasm	DNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(4)|large_intestine(1)	5														0.341463	79.175001	80.996284	28	54	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		Silent	SNP	106882740	106882740	18248	8	C	T	T	27	27	ZFPM2	T	1	1
ZFPM2	23414	broad.mit.edu	36	8	106884159	106884159	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:106884159C>T	uc003ymd.1	+	c.2673C>T	c.(2671-2673)GAC>GAT	p.D891D		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	891					blood coagulation|transcription, DNA-dependent	nucleoplasm	DNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(4)|large_intestine(1)	5														0.378378	38.739386	39.220137	14	23	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		Silent	SNP	106884159	106884159	18248	8	C	T	T	19	19	ZFPM2	T	1	1
USP17L2	377630	broad.mit.edu	36	8	12033449	12033449	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:12033449G>A	uc003wvc.1	-	c.230C>T	c.(229-231)GCG>GTG	p.A77V		NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	deubiquitinating enzyme 3	77					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0														0.230088	58.405321	65.943859	26	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12033449	12033449	17611	8	G	A	A	38	38	USP17L2	A	1	1
FAM83A	84985	broad.mit.edu	36	8	124288966	124288966	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124288966C>T	uc003ypv.1	+	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W	FAM83A_uc003ypw.1_Intron|FAM83A_uc003ypy.2_Intron|FAM83A_uc003ypx.1_Missense_Mutation_p.R388W|FAM83A_uc003ypz.1_Intron	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	388	Pro-rich.									ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)													0.5	17.549405	17.549405	6	6	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00527)		Missense_Mutation	SNP	124288966	124288966	5859	8	C	T	T	27	27	FAM83A	T	1	1
WDYHV1	55093	broad.mit.edu	36	8	124522782	124522782	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:124522782C>T	uc003yqn.1	+	c.564C>T	c.(562-564)GGC>GGT	p.G188G	WDYHV1_uc003yqo.1_Non-coding_Transcript	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	188					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)	1														0.25	17.912242	19.502496	7	21	CC		KEEP	---	---	---	---	capture			Silent	SNP	124522782	124522782	17917	8	C	T	T	27	27	WDYHV1	T	1	1
FER1L6	654463	broad.mit.edu	36	8	125059011	125059011	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125059011C>T	uc003yqw.1	+	c.1044C>T	c.(1042-1044)AAC>AAT	p.N348N		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	348	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)													0.355263	75.901438	77.305143	27	49	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00186)		Silent	SNP	125059011	125059011	6052	8	C	T	T	19	19	FER1L6	T	1	1
FER1L6	654463	broad.mit.edu	36	8	125163815	125163815	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:125163815C>T	uc003yqw.1	+	c.4326C>T	c.(4324-4326)ATC>ATT	p.I1442I		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1442	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)													0.280769	187.649155	198.895882	73	187	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(47;0.00186)		Silent	SNP	125163815	125163815	6052	8	C	T	T	31	31	FER1L6	T	1	1
ADCY8	114	broad.mit.edu	36	8	131985419	131985419	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:131985419G>A	uc003ytd.2	-	c.1692C>T	c.(1690-1692)AAC>AAT	p.N564N	ADCY8_uc010mds.1_Silent_p.N564N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	564	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)													0.366906	440.264429	446.759072	153	264	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.000538)		Silent	SNP	131985419	131985419	301	8	G	A	A	40	40	ADCY8	A	1	1
WISP1	8840	broad.mit.edu	36	8	134302025	134302025	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134302025C>T	uc003yub.1	+	c.369C>T	c.(367-369)TGC>TGT	p.C123C	WISP1_uc003yuc.1_Intron|WISP1_uc010meb.1_Intron|WISP1_uc010mec.1_Intron|WISP1_uc010med.1_Intron|WISP1_uc003yud.1_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	123	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)													0.303571	40.649368	42.580615	17	39	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0107)		Silent	SNP	134302025	134302025	17946	8	C	T	T	27	27	WISP1	T	1	1
WISP1	8840	broad.mit.edu	36	8	134302234	134302234	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:134302234G>A	uc003yub.1	+	c.578G>A	c.(577-579)CGC>CAC	p.R193H	WISP1_uc003yuc.1_Intron|WISP1_uc010meb.1_Intron|WISP1_uc010mec.1_Intron|WISP1_uc010med.1_Intron|WISP1_uc003yud.1_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	193					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)													0.34	47.76162	48.892168	17	33	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0107)		Missense_Mutation	SNP	134302234	134302234	17946	8	G	A	A	38	38	WISP1	A	1	1
COL22A1	169044	broad.mit.edu	36	8	139902742	139902742	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:139902742C>T	uc003yvd.1	-	c.1064G>A	c.(1063-1065)CGG>CAG	p.R355Q		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	355	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)													0.414286	183.628926	184.526085	58	82	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0517)		Missense_Mutation	SNP	139902742	139902742	3819	8	C	T	T	23	23	COL22A1	T	1	1
BAI1	575	broad.mit.edu	36	8	143620558	143620558	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143620558G>A	uc003ywm.1	+	c.3961G>A	c.(3961-3963)GGT>AGT	p.G1321S		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1321	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)								p.G1321S(CCK81-Tumor)|p.G1321S(HCT116-Tumor)	829				0.351351	73.933255	75.373027	26	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143620558	143620558	1319	8	G	A	A	39	39	BAI1	A	1	1
CYP11B2	1585	broad.mit.edu	36	8	143993610	143993610	+	Nonsense_Mutation	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143993610G>T	uc003yxk.1	-	c.449C>A	c.(448-450)TCG>TAG	p.S150*		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, subfamily XIB polypeptide 2	150					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.357143	39.612028	40.367434	15	27	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	143993610	143993610	4311	8	G	T	T	37	37	CYP11B2	T	5	3
ZC3H3	23144	broad.mit.edu	36	8	144691981	144691981	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144691981G>A	uc003yyd.2	-	c.699C>T	c.(697-699)TCC>TCT	p.S233S		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	233					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)													0.410959	92.03709	92.542426	30	43	GG		KEEP	---	---	---	---	capture	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		Silent	SNP	144691981	144691981	18157	8	G	A	A	39	39	ZC3H3	A	1	1
MAPK15	225689	broad.mit.edu	36	8	144872989	144872989	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144872989C>T	uc003yzj.1	+	c.343C>T	c.(343-345)CGC>TGC	p.R115C		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	115	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	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)									103				0.571429	48.201782	48.326111	16	12	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144872989	144872989	9660	8	C	T	T	27	27	MAPK15	T	1	1
PUF60	22827	broad.mit.edu	36	8	144971221	144971221	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144971221C>T	uc003yzs.1	-	c.1227G>A	c.(1225-1227)ACG>ACA	p.T409T	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.1_Silent_p.T366T|PUF60_uc003yzr.1_Silent_p.T349T|PUF60_uc003yzt.1_Silent_p.T392T|PUF60_uc003yzu.1_Silent_p.T398T	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	409	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.416667	29.444981	29.590676	10	14	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		Silent	SNP	144971221	144971221	13282	8	C	T	T	27	27	PUF60	T	1	1
EPPK1	83481	broad.mit.edu	36	8	145014294	145014294	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145014294G>A	uc003zaa.1	-	c.5041C>T	c.(5041-5043)CGC>TGC	p.R1681C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1706	Plectin 29.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.394231	120.686467	121.692764	41	63	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145014294	145014294	5383	8	G	A	A	39	39	EPPK1	A	1	1
PLEC	5339	broad.mit.edu	36	8	145068278	145068278	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145068278G>A	uc003zaf.1	-	c.8110C>T	c.(8110-8112)CGG>TGG	p.R2704W	PLEC_uc003zag.1_Missense_Mutation_p.R2545W|PLEC_uc003zah.1_Missense_Mutation_p.R2553W|PLEC_uc003zai.1_Missense_Mutation_p.R2594W|PLEC_uc003zaj.1_Missense_Mutation_p.R2594W|PLEC_uc003zab.1_Missense_Mutation_p.R2567W|PLEC_uc003zac.1_Missense_Mutation_p.R2571W|PLEC_uc003zad.1_Missense_Mutation_p.R2567W|PLEC_uc003zae.1_Missense_Mutation_p.R2535W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	2704	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.6	9.225586	9.26923	3	2	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145068278	145068278	12478	8	G	A	A	38	38	PLEC	A	1	1
SPATC1	375686	broad.mit.edu	36	8	145173776	145173776	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145173776C>T	uc003zaq.1	+	c.1434C>T	c.(1432-1434)GAC>GAT	p.D478D		NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	569										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.478261	95.664554	95.693058	33	36	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Silent	SNP	145173776	145173776	15527	8	C	T	T	19	19	SPATC1	T	1	1
OPLAH	26873	broad.mit.edu	36	8	145183538	145183538	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145183538C>T	uc003zar.2	-	c.1815G>A	c.(1813-1815)GCG>GCA	p.A605A	OPLAH_uc010mfp.1_Non-coding_Transcript|OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	605							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)				L-Glutamic Acid(DB00142)									0.28	18.915464	20.002673	7	18	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Silent	SNP	145183538	145183538	11282	8	C	T	T	23	23	OPLAH	T	1	1
GPAA1	8733	broad.mit.edu	36	8	145210638	145210638	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145210638C>T	uc003zax.1	+	c.400C>T	c.(400-402)CGG>TGG	p.R134W	GPAA1_uc003zav.1_Missense_Mutation_p.R12W|GPAA1_uc003zaw.1_Missense_Mutation_p.R74W	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	134	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.25	23.434325	25.704752	10	30	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		Missense_Mutation	SNP	145210638	145210638	6861	8	C	T	T	27	27	GPAA1	T	1	1
CPSF1	29894	broad.mit.edu	36	8	145589573	145589573	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145589573G>A	uc003zcj.1	-	c.4186C>T	c.(4186-4188)CGC>TGC	p.R1396C		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1396					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)					NSCLC(133;1088 1848 27708 34777 35269)								0.538462	19.818251	19.834435	7	6	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		Missense_Mutation	SNP	145589573	145589573	3962	8	G	A	A	38	38	CPSF1	A	1	1
CPSF1	29894	broad.mit.edu	36	8	145593530	145593530	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145593530G>A	uc003zcj.1	-	c.2365C>T	c.(2365-2367)CGG>TGG	p.R789W		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	789					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)					NSCLC(133;1088 1848 27708 34777 35269)								0.263158	24.863003	26.771787	10	28	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		Missense_Mutation	SNP	145593530	145593530	3962	8	G	A	A	38	38	CPSF1	A	1	1
CPSF1	29894	broad.mit.edu	36	8	145596022	145596022	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145596022G>A	uc003zcj.1	-	c.1076C>T	c.(1075-1077)GCG>GTG	p.A359V	CPSF1_uc003zck.1_Missense_Mutation_p.A309V	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	359					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)					NSCLC(133;1088 1848 27708 34777 35269)								0.625	14.475273	14.584636	5	3	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		Missense_Mutation	SNP	145596022	145596022	3962	8	G	A	A	38	38	CPSF1	A	1	1
SLC39A4	55630	broad.mit.edu	36	8	145612027	145612027	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145612027C>T	uc003zcq.1	-	c.449G>A	c.(448-450)CGG>CAG	p.R150Q	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.1_5'Flank|SLC39A4_uc003zco.1_5'Flank|SLC39A4_uc003zcp.1_Missense_Mutation_p.R125Q	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	150	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.428571	17.348646	17.410698	6	8	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		Missense_Mutation	SNP	145612027	145612027	15117	8	C	T	T	23	23	SLC39A4	T	1	1
NFKBIL2	4796	broad.mit.edu	36	8	145631972	145631972	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145631972C>T	uc003zcu.2	-	c.2175G>A	c.(2173-2175)ATG>ATA	p.M725I		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	884					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.419118	161.445215	162.223095	57	79	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		Missense_Mutation	SNP	145631972	145631972	10782	8	C	T	T	25	25	NFKBIL2	T	2	2
RECQL4	9401	broad.mit.edu	36	8	145708240	145708240	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145708240G>A	uc003zdj.1	-	c.3255C>T	c.(3253-3255)TGC>TGT	p.C1085C		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1085					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			skin(1)	1	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)								p.C1085C(IM95-Tumor)	474				0.555556	15.175676	15.199874	5	4	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		Silent	SNP	145708240	145708240	13671	8	G	A	A	38	38	RECQL4	A	1	1
DLGAP2	9228	broad.mit.edu	36	8	1484436	1484436	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:1484436C>T	uc003wpl.1	+	c.170C>T	c.(169-171)CCG>CTG	p.P57L	DLGAP2_uc003wpm.1_Missense_Mutation_p.P57L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	136					nerve-nerve synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)												0.55	36.227827	36.271579	11	9	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	Missense_Mutation	SNP	1484436	1484436	4740	8	C	T	T	23	23	DLGAP2	T	1	1
PSD3	23362	broad.mit.edu	36	8	18502210	18502210	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:18502210G>A	uc003wza.1	-	c.2425C>T	c.(2425-2427)CGA>TGA	p.R809*	PSD3_uc003wyx.2_Nonsense_Mutation_p.R138*|PSD3_uc003wyy.1_Nonsense_Mutation_p.R275*|PSD3_uc003wyz.1_Nonsense_Mutation_p.R110*	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	810	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3														0.439306	225.47214	226.028105	76	97	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	Nonsense_Mutation	SNP	18502210	18502210	13101	8	G	A	A	40	40	PSD3	A	5	1
INTS10	55174	broad.mit.edu	36	8	19725736	19725736	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:19725736C>T	uc003wzj.1	+	c.737C>T	c.(736-738)ACG>ATG	p.T246M		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	246					snRNA processing	integrator complex	protein binding			ovary(1)	1														0.342466	138.704106	141.906057	50	96	CC		KEEP	---	---	---	---	capture		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	Missense_Mutation	SNP	19725736	19725736	8077	8	C	T	T	19	19	INTS10	T	1	1
SLC18A1	6570	broad.mit.edu	36	8	20049148	20049148	+	Silent	SNP	G	A	A	rs17215773	unknown	TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:20049148G>A	uc003wzm.1	-	c.1365C>T	c.(1363-1365)ATC>ATT	p.I455I	SLC18A1_uc003wzl.1_Silent_p.I242I|SLC18A1_uc010ltf.1_Non-coding_Transcript|SLC18A1_uc003wzn.1_Silent_p.I423I|SLC18A1_uc003wzo.1_Silent_p.I423I	NM_003053	NP_003044	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	455	Helical; (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2														0.320513	70.259586	72.485564	25	53	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0747)	Silent	SNP	20049148	20049148	14921	8	G	A	A	37	37	SLC18A1	A	1	1
NEFL	4747	broad.mit.edu	36	8	24867183	24867183	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24867183C>T	uc003xee.1	-	c.1213G>A	c.(1213-1215)GTG>ATG	p.V405M		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	405	Tail.|Tail, subdomain A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)												0.305085	47.726215	49.727022	18	41	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	Missense_Mutation	SNP	24867183	24867183	10714	8	C	T	T	19	19	NEFL	T	1	1
BNIP3L	665	broad.mit.edu	36	8	26323813	26323813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:26323813C>T	uc003xex.1	+	c.628C>T	c.(628-630)CGA>TGA	p.R210*	BNIP3L_uc010luh.1_Nonsense_Mutation_p.R103*|BNIP3L_uc010lui.1_Nonsense_Mutation_p.R170*|BNIP3L_uc003xey.1_Nonsense_Mutation_p.R170*	NM_004331	NP_004322	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein	210					apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity				0		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)												0.196429	24.017752	28.807998	11	45	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)	Nonsense_Mutation	SNP	26323813	26323813	1504	8	C	T	T	27	27	BNIP3L	T	5	1
CHRNA2	1135	broad.mit.edu	36	8	27376777	27376777	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27376777C>T	uc010lur.1	-	c.1100G>A	c.(1099-1101)CGG>CAG	p.R367Q	CHRNA2_uc010lus.1_Missense_Mutation_p.R169Q	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	367	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)			Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)									0.364865	80.412082	81.597779	27	47	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Missense_Mutation	SNP	27376777	27376777	3517	8	C	T	T	23	23	CHRNA2	T	1	1
CHRNA2	1135	broad.mit.edu	36	8	27376899	27376899	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27376899C>T	uc010lur.1	-	c.978G>A	c.(976-978)CCG>CCA	p.P326P	CHRNA2_uc010lus.1_Silent_p.P128P	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	326						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)			Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)									0.465909	120.575705	120.663322	41	47	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Silent	SNP	27376899	27376899	3517	8	C	T	T	27	27	CHRNA2	T	1	1
SCARA5	286133	broad.mit.edu	36	8	27835195	27835195	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:27835195G>A	uc003xgj.1	-	c.728C>T	c.(727-729)ACG>ATG	p.T243M	SCARA5_uc010luz.1_Intron|SCARA5_uc003xgk.2_Missense_Mutation_p.T200M|SCARA5_uc003xgl.2_Missense_Mutation_p.T243M	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	243	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)								203				0.833333	15.782834	16.408983	5	1	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	Missense_Mutation	SNP	27835195	27835195	14361	8	G	A	A	40	40	SCARA5	A	1	1
CSMD1	64478	broad.mit.edu	36	8	3050449	3050449	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:3050449C>T	uc010lrh.1	-	c.4971G>A	c.(4969-4971)ACG>ACA	p.T1657T	CSMD1_uc003wqc.2_Silent_p.T1122T|CSMD1_uc003wqe.2_Silent_p.T813T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1657	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)												0.5	39.699642	39.699642	12	12	CC		KEEP	---	---	---	---	capture		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)	Silent	SNP	3050449	3050449	4085	8	C	T	T	23	23	CSMD1	T	1	1
CSMD1	64478	broad.mit.edu	36	8	3251103	3251103	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:3251103G>A	uc010lrh.1	-	c.2122C>T	c.(2122-2124)CGA>TGA	p.R708*	CSMD1_uc003wqc.2_Nonsense_Mutation_p.R173*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	708	Sushi 4.|Extracellular (Potential).					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)												0.368421	19.319092	19.608592	7	12	GG		KEEP	---	---	---	---	capture		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)	Nonsense_Mutation	SNP	3251103	3251103	4085	8	G	A	A	40	40	CSMD1	A	5	1
CSMD1	64478	broad.mit.edu	36	8	3252983	3252983	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:3252983G>A	uc010lrh.1	-	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	CSMD1_uc003wqc.2_Missense_Mutation_p.A105V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	640	Extracellular (Potential).|CUB 4.					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)												0.258621	37.196464	40.259418	15	43	GG		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	3252983	3252983	4085	8	G	A	A	38	38	CSMD1	A	1	1
PROSC	11212	broad.mit.edu	36	8	37754755	37754755	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:37754755C>T	uc003xkh.1	+	c.803C>T	c.(802-804)CCG>CTG	p.P268L		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	268							pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)			L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)									0.375	113.69753	115.124648	39	65	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		Missense_Mutation	SNP	37754755	37754755	13002	8	C	T	T	23	23	PROSC	T	1	1
BRF2	55290	broad.mit.edu	36	8	37821246	37821246	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:37821246G>A	uc003xkk.1	-	c.1180C>T	c.(1180-1182)CGT>TGT	p.R394C		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	394					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|transcription regulator activity|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)								145				0.310345	46.528562	48.387059	18	40	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		Missense_Mutation	SNP	37821246	37821246	1542	8	G	A	A	38	38	BRF2	A	1	1
RAB11FIP1	80223	broad.mit.edu	36	8	37851472	37851472	+	Silent	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:37851472A>G	uc003xkm.1	-	c.1341T>C	c.(1339-1341)GCT>GCC	p.A447A	RAB11FIP1_uc010lvz.1_Silent_p.A295A|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xkn.1_Silent_p.A447A|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.A295A	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	447					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)	1		Lung NSC(58;0.118)|all_lung(54;0.195)												0.330218	346.45102	354.646867	106	215	AA		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		Silent	SNP	37851472	37851472	13352	8	A	G	G	15	15	RAB11FIP1	G	4	4
PPAPDC1B	84513	broad.mit.edu	36	8	38244061	38244061	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38244061C>T	uc003xlf.2	-	c.344G>A	c.(343-345)CGC>CAC	p.R115H	PPAPDC1B_uc003xle.2_Missense_Mutation_p.R74H|PPAPDC1B_uc003xlg.2_Missense_Mutation_p.R115H|PPAPDC1B_uc010lwd.1_Missense_Mutation_p.R115H	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain	115	Phosphatase sequence motif I.			R->A: Loss of phosphatase activity; when associated with A-152 and with A-208.		integral to membrane	phosphatidate phosphatase activity				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)								67				0.284483	86.832441	91.666488	33	83	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)		Missense_Mutation	SNP	38244061	38244061	12724	8	C	T	T	27	27	PPAPDC1B	T	1	1
WHSC1L1	54904	broad.mit.edu	36	8	38314111	38314111	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:38314111G>A	uc003xli.1	-	c.779C>T	c.(778-780)ACG>ATG	p.T260M	WHSC1L1_uc010lwe.1_Missense_Mutation_p.T260M|WHSC1L1_uc003xlj.1_Missense_Mutation_p.T260M	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	260					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|zinc ion binding				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)							p.T260K(MUTZ5-Tumor)	521				0.264706	44.8182	48.221973	18	50	GG		KEEP	---	---	---	---	capture	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		Missense_Mutation	SNP	38314111	38314111	17937	8	G	A	A	40	40	WHSC1L1	A	1	1
ANK1	286	broad.mit.edu	36	8	41671921	41671921	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:41671921C>T	uc003xom.1	-	c.3169G>A	c.(3169-3171)GTG>ATG	p.V1057M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.1_Missense_Mutation_p.V332M|ANK1_uc003xoi.1_Missense_Mutation_p.V1016M|ANK1_uc003xoj.1_Missense_Mutation_p.V1016M|ANK1_uc003xok.1_Missense_Mutation_p.V1016M|ANK1_uc003xol.1_Missense_Mutation_p.V1016M	NM_020475	NP_065208	P16157	ANK1_HUMAN	ankyrin 1 isoform 4	1016	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)												0.429787	274.62192	275.631158	101	134	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		Missense_Mutation	SNP	41671921	41671921	623	8	C	T	T	19	19	ANK1	T	1	1
SLC20A2	6575	broad.mit.edu	36	8	42414149	42414149	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:42414149G>A	uc010lxl.1	-	c.1038C>T	c.(1036-1038)ACC>ACT	p.T346T	SLC20A2_uc010lxm.1_Silent_p.T346T|SLC20A2_uc003xpe.1_Silent_p.T346T	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	346	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)												0.325581	157.056045	161.69083	56	116	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Silent	SNP	42414149	42414149	14935	8	G	A	A	39	39	SLC20A2	A	1	1
HGSNAT	138050	broad.mit.edu	36	8	43144946	43144946	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:43144946G>A	uc003xpx.2	+	c.695G>A	c.(694-696)CGT>CAT	p.R232H		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	260	Cytoplasmic (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)												0.391304	25.570881	25.808466	9	14	GG		KEEP	---	---	---	---	capture	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		Missense_Mutation	SNP	43144946	43144946	7372	8	G	A	A	40	40	HGSNAT	A	1	1
RB1CC1	9821	broad.mit.edu	36	8	53731479	53731479	+	Missense_Mutation	SNP	A	T	T			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:53731479A>T	uc003xre.2	-	c.3463T>A	c.(3463-3465)TTA>ATA	p.L1155I	RB1CC1_uc003xrf.2_Missense_Mutation_p.L1155I	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1155	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|large_intestine(1)	9		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GBM(180;1701 2102 13475 42023 52570)								0.35	103.296693	105.281057	35	65	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53731479	53731479	13560	8	A	T	T	4	4	RB1CC1	T	4	4
NPBWR1	2831	broad.mit.edu	36	8	54015842	54015842	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:54015842G>A	uc003xrg.1	+	c.822G>A	c.(820-822)GCG>GCA	p.A274A		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	274	Extracellular (Potential).				synaptic transmission	integral to membrane|plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)												0.383333	66.263772	66.960107	23	37	GG		KEEP	---	---	---	---	capture			Silent	SNP	54015842	54015842	10972	8	G	A	A	38	38	NPBWR1	A	1	1
NSMAF	8439	broad.mit.edu	36	8	59718115	59718115	+	Missense_Mutation	SNP	T	C	C			TCGA-32-2616-01	TCGA-32-2616-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:59718115T>C	uc003xtt.1	-	c.131A>G	c.(130-132)AAG>AGG	p.K44R	NSMAF_uc003xtu.1_Missense_Mutation_p.K44R	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	44					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)												0.089552	10.312603	33.084589	12	122	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59718115	59718115	11079	8	T	C	C	56	56	NSMAF	C	4	4
CA8	767	broad.mit.edu	36	8	61354889	61354889	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:61354889G>A	uc003xtz.1	-	c.205C>T	c.(205-207)CGC>TGC	p.R69C	CA8_uc003xua.1_Missense_Mutation_p.R69C|CA8_uc003xub.2_Missense_Mutation_p.R69C	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	69					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)												0.313725	91.385825	94.523227	32	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61354889	61354889	2639	8	G	A	A	39	39	CA8	A	1	1
PREX2	80243	broad.mit.edu	36	8	69119342	69119342	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:69119342G>A	uc003xxv.1	+	c.906G>A	c.(904-906)ACG>ACA	p.T302T	PREX2_uc003xxu.1_Silent_p.T302T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	302	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13										1011				0.347826	99.17427	101.053794	32	60	GG		KEEP	---	---	---	---	capture			Silent	SNP	69119342	69119342	12920	8	G	A	A	39	39	PREX2	A	1	1
NECAB1	64168	broad.mit.edu	36	8	91998928	91998928	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:91998928C>T	uc003yeq.1	+	c.390C>T	c.(388-390)TTC>TTT	p.F130F		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	130					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1														0.275862	64.161793	68.097204	24	63	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0499)		Silent	SNP	91998928	91998928	10703	8	C	T	T	31	31	NECAB1	T	1	1
RUNX1T1	862	broad.mit.edu	36	8	93067552	93067552	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:93067552C>T	uc003yfd.2	-	c.1255G>A	c.(1255-1257)GTC>ATC	p.V419I	RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.V382I|RUNX1T1_uc003yfc.1_Missense_Mutation_p.V392I|RUNX1T1_uc003yfe.1_Missense_Mutation_p.V382I|RUNX1T1_uc010mao.1_Missense_Mutation_p.V392I	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	419					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										213				0.344	234.616302	239.969998	86	164	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(11;0.0141)		Missense_Mutation	SNP	93067552	93067552	14227	8	C	T	T	19	19	RUNX1T1	T	1	1
TBC1D2	55357	broad.mit.edu	36	9	100005401	100005401	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100005401G>A	uc004ayq.1	-	c.2261C>T	c.(2260-2262)ACG>ATG	p.T754M	TBC1D2_uc004ayo.2_Missense_Mutation_p.T754M|TBC1D2_uc004ayp.1_Missense_Mutation_p.T294M|TBC1D2_uc004ayr.1_Missense_Mutation_p.T536M	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	754	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)												0.369863	153.318654	155.488716	54	92	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	Missense_Mutation	SNP	100005401	100005401	16130	9	G	A	A	40	40	TBC1D2	A	1	1
GABBR2	9568	broad.mit.edu	36	9	100173654	100173654	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100173654G>A	uc004ays.1	-	c.1683C>T	c.(1681-1683)ACC>ACT	p.T561T		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51	561	Helical; Name=3; (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.415385	85.515974	85.921683	27	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	100173654	100173654	6407	9	G	A	A	39	39	GABBR2	A	1	1
GALNT12	79695	broad.mit.edu	36	9	100629015	100629015	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100629015C>T	uc004ayz.1	+	c.702C>T	c.(700-702)CAC>CAT	p.H234H		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	234	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.428571	7.223042	7.254242	3	4	CC		KEEP	---	---	---	---	capture			Silent	SNP	100629015	100629015	6474	9	C	T	T	19	19	GALNT12	T	1	1
COL15A1	1306	broad.mit.edu	36	9	100837458	100837458	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:100837458C>T	uc004azb.1	+	c.2226C>T	c.(2224-2226)ACC>ACT	p.T742T		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	742	Nonhelical region 3 (NC3).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.328358	129.660852	133.157821	44	90	CC		KEEP	---	---	---	---	capture			Silent	SNP	100837458	100837458	3810	9	C	T	T	23	23	COL15A1	T	1	1
TEX10	54881	broad.mit.edu	36	9	102148868	102148868	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:102148868G>A	uc004bas.1	-	c.822C>T	c.(820-822)AAC>AAT	p.N274N	TEX10_uc004bat.1_Silent_p.N274N	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10	274						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0527)												0.329231	298.720326	307.11918	107	218	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.157)	Silent	SNP	102148868	102148868	16299	9	G	A	A	40	40	TEX10	A	1	1
PTPN3	5774	broad.mit.edu	36	9	111250919	111250919	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:111250919C>T	uc004bed.1	-	c.406G>A	c.(406-408)GAA>AAA	p.E136K	PTPN3_uc004beb.1_Missense_Mutation_p.E5K|PTPN3_uc004bec.1_Missense_Mutation_p.E5K|PTPN3_uc010mtu.1_Non-coding_Transcript	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	136	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.271739	67.033238	71.355846	25	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111250919	111250919	13246	9	C	T	T	31	31	PTPN3	T	1	1
KIAA0368	23392	broad.mit.edu	36	9	113239111	113239111	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:113239111G>A	uc004bfe.1	-	c.1172C>T	c.(1171-1173)CCG>CTG	p.P391L	KIAA0368_uc010muc.1_Missense_Mutation_p.P213L	NM_001080398	NP_001073867			KIAA0368 protein												0														0.350365	139.288303	141.98101	48	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113239111	113239111	8478	9	G	A	A	39	39	KIAA0368	A	1	1
C9orf43	257169	broad.mit.edu	36	9	115227133	115227133	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115227133G>A	uc004bho.2	+	c.821G>A	c.(820-822)CGA>CAA	p.R274Q	C9orf43_uc004bhp.1_Missense_Mutation_p.R274Q	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	274											0														0.38	113.427339	114.690078	38	62	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	115227133	115227133	2598	9	G	A	A	37	37	C9orf43	A	1	1
TNC	3371	broad.mit.edu	36	9	116865141	116865141	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116865141C>T	uc004bjj.2	-	c.3909G>A	c.(3907-3909)ACG>ACA	p.T1303T	TNC_uc010mvf.1_Silent_p.T1303T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1303	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.313725	47.503306	49.066384	16	35	CC		KEEP	---	---	---	---	capture			Silent	SNP	116865141	116865141	16811	9	C	T	T	23	23	TNC	T	1	1
TNC	3371	broad.mit.edu	36	9	116886323	116886323	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:116886323G>A	uc004bjj.2	-	c.2117C>T	c.(2116-2118)GCC>GTC	p.A706V	TNC_uc010mvf.1_Missense_Mutation_p.A706V	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	706	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.319328	101.015578	104.463659	38	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116886323	116886323	16811	9	G	A	A	42	42	TNC	A	2	2
PAPPA	5069	broad.mit.edu	36	9	117989953	117989953	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:117989953G>A	uc004bjn.1	+	c.1115G>A	c.(1114-1116)CGC>CAC	p.R372H		NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	372	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|pancreas(1)	5									p.R372H(TCCPAN2-Tumor)	611				0.415385	77.63203	78.032857	27	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	117989953	117989953	11849	9	G	A	A	38	38	PAPPA	A	1	1
STOM	2040	broad.mit.edu	36	9	123156729	123156729	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:123156729C>T	uc004blh.1	-	c.209G>A	c.(208-210)CGC>CAC	p.R70H	STOM_uc004bli.1_Intron	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	70	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0														0.426829	104.112254	104.494978	35	47	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	Missense_Mutation	SNP	123156729	123156729	15832	9	C	T	T	27	27	STOM	T	1	1
OR1L3	26735	broad.mit.edu	36	9	124477593	124477593	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124477593C>T	uc004bmt.1	+	c.364C>T	c.(364-366)CGC>TGC	p.R122C		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.325137	330.406483	340.33342	119	247	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124477593	124477593	11370	9	C	T	T	23	23	OR1L3	T	1	1
NEK6	10783	broad.mit.edu	36	9	126114660	126114660	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:126114660G>A	uc004boh.1	+	c.244G>A	c.(244-246)GAA>AAA	p.E82K	NEK6_uc004bof.1_Missense_Mutation_p.E66K|NEK6_uc004bog.1_Missense_Mutation_p.E48K|NEK6_uc010mwj.1_Intron|NEK6_uc010mwk.1_Missense_Mutation_p.E48K|NEK6_uc004boi.1_Missense_Mutation_p.E48K	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	48	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						NSCLC(122;934 1785 18647 44295 45571)				350				0.326087	41.111602	42.344669	15	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	126114660	126114660	10727	9	G	A	A	37	37	NEK6	A	1	1
GARNL3	84253	broad.mit.edu	36	9	129135205	129135205	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129135205C>T	uc004bqs.1	+	c.699C>T	c.(697-699)GGC>GGT	p.G233G	GARNL3_uc010mxh.1_Non-coding_Transcript|GARNL3_uc004bqt.1_Silent_p.G32G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	251	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			central_nervous_system(1)|skin(1)	2														0.373832	116.383222	117.874868	40	67	CC		KEEP	---	---	---	---	capture			Silent	SNP	129135205	129135205	6505	9	C	T	T	27	27	GARNL3	T	1	1
LRSAM1	90678	broad.mit.edu	36	9	129275975	129275975	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:129275975C>T	uc004brb.1	+	c.694C>T	c.(694-696)CGG>TGG	p.R232W	LRSAM1_uc010mxk.1_Missense_Mutation_p.R232W|LRSAM1_uc004brc.1_Missense_Mutation_p.R232W|LRSAM1_uc004brd.1_Missense_Mutation_p.R232W	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	232					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0														0.321429	96.038068	99.223185	36	76	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129275975	129275975	9419	9	C	T	T	31	31	LRSAM1	T	1	1
FAM73B	84895	broad.mit.edu	36	9	130844430	130844430	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:130844430G>A	uc004bxa.1	+	c.123G>A	c.(121-123)ACG>ACA	p.T41T	FAM73B_uc004bwy.1_Non-coding_Transcript|FAM73B_uc004bwz.1_Non-coding_Transcript	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	41						integral to membrane					0														0.366667	60.121237	61.06371	22	38	GG		KEEP	---	---	---	---	capture			Silent	SNP	130844430	130844430	5842	9	G	A	A	38	38	FAM73B	A	1	1
LAMC3	10319	broad.mit.edu	36	9	132891731	132891731	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:132891731C>T	uc004caa.1	+	c.612C>T	c.(610-612)AAC>AAT	p.N204N		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	204	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)												0.529412	26.378871	26.392167	9	8	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	Silent	SNP	132891731	132891731	8939	9	C	T	T	19	19	LAMC3	T	1	1
FAM78A	286336	broad.mit.edu	36	9	133141341	133141341	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133141341G>A	uc004cak.1	-	c.47C>T	c.(46-48)GCG>GTG	p.A16V		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	16										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)												0.344828	56.092845	57.321221	20	38	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	Missense_Mutation	SNP	133141341	133141341	5852	9	G	A	A	38	38	FAM78A	A	1	1
PPAPDC3	84814	broad.mit.edu	36	9	133155381	133155381	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:133155381G>A	uc004cal.1	+	c.176G>A	c.(175-177)CGA>CAA	p.R59Q		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	59	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)													0.47619	89.245696	89.276693	30	33	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	Missense_Mutation	SNP	133155381	133155381	12726	9	G	A	A	37	37	PPAPDC3	A	1	1
GBGT1	26301	broad.mit.edu	36	9	135019408	135019408	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135019408G>A	uc004ccw.1	-	c.421C>T	c.(421-423)CGG>TGG	p.R141W	GBGT1_uc004ccx.1_Missense_Mutation_p.R94W|GBGT1_uc010nab.1_Missense_Mutation_p.P153L|GBGT1_uc004ccy.1_3'UTR|GBGT1_uc010nac.1_Missense_Mutation_p.R5W	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN	globoside	141	Lumenal (Potential).				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding				0														0.558824	60.728207	60.830682	19	15	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	Missense_Mutation	SNP	135019408	135019408	6538	9	G	A	A	39	39	GBGT1	A	1	1
RXRA	6256	broad.mit.edu	36	9	136463622	136463622	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:136463622C>T	uc004cfb.1	+	c.1094C>T	c.(1093-1095)ACG>ATG	p.T365M	RXRA_uc004cfc.1_Missense_Mutation_p.T268M	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	365	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			ovary(1)	1					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)					303				0.341463	35.935629	36.847112	14	27	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Missense_Mutation	SNP	136463622	136463622	14243	9	C	T	T	19	19	RXRA	T	1	1
COL5A1	1289	broad.mit.edu	36	9	136833659	136833659	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:136833659C>T	uc004cfe.1	+	c.2991C>T	c.(2989-2991)GGC>GGT	p.G997G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	997	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)												0.387931	130.555133	131.829152	45	71	CC		KEEP	---	---	---	---	capture		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	Silent	SNP	136833659	136833659	3834	9	C	T	T	27	27	COL5A1	T	1	1
GLT6D1	360203	broad.mit.edu	36	9	137655960	137655960	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137655960G>A	uc010nbd.1	-	c.635C>T	c.(634-636)CCG>CTG	p.P212L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	212	Lumenal (Potential).				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			ovary(1)	1		Myeloproliferative disorder(178;0.0821)												0.365269	185.430857	188.09691	61	106	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	Missense_Mutation	SNP	137655960	137655960	6736	9	G	A	A	39	39	GLT6D1	A	1	1
MAMDC4	158056	broad.mit.edu	36	9	138868284	138868284	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:138868284G>A	uc004cjs.1	+	c.605G>A	c.(604-606)CGA>CAA	p.R202Q		NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	202	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)	4	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)								290				0.34	141.178274	144.573068	51	99	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	Missense_Mutation	SNP	138868284	138868284	9587	9	G	A	A	37	37	MAMDC4	A	1	1
GRIN1	2902	broad.mit.edu	36	9	139175465	139175465	+	Missense_Mutation	SNP	G	C	C			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139175465G>C	uc004cln.1	+	c.1388G>C	c.(1387-1389)GGC>GCC	p.G463A	GRIN1_uc004cli.1_Missense_Mutation_p.G120A|GRIN1_uc004clj.1_Missense_Mutation_p.G442A|GRIN1_uc004clk.1_Missense_Mutation_p.G445A|GRIN1_uc004cll.1_Missense_Mutation_p.G445A|GRIN1_uc004clm.1_Missense_Mutation_p.G445A|GRIN1_uc004clo.1_Missense_Mutation_p.G463A	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	445	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding				0	all_cancers(76;0.0926)				L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	NSCLC(113;717 1653 2089 20474 37618)								0.428571	8.439063	8.520194	6	8	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Missense_Mutation	SNP	139175465	139175465	7057	9	G	C	C	42	42	GRIN1	C	3	3
SLC34A3	142680	broad.mit.edu	36	9	139246024	139246024	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139246024G>A	uc004cme.1	+	c.49G>A	c.(49-51)GCG>ACG	p.A17T	SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc004cmd.1_Missense_Mutation_p.A17T|SLC34A3_uc004cmf.1_Missense_Mutation_p.A17T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	17	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)													0.379487	205.504179	207.987557	74	121	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	Missense_Mutation	SNP	139246024	139246024	15066	9	G	A	A	38	38	SLC34A3	A	1	1
EXD3	54932	broad.mit.edu	36	9	139321279	139321279	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139321279C>T	uc004cmp.2	-	c.2575G>A	c.(2575-2577)GCC>ACC	p.A859T	EXD3_uc010ncf.1_Missense_Mutation_p.A497T	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	hypothetical protein LOC54932	859					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0														0.375	20.964873	21.294399	9	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139321279	139321279	5492	9	C	T	T	27	27	EXD3	T	1	1
PNPLA7	375775	broad.mit.edu	36	9	139475876	139475876	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139475876G>A	uc010ncj.1	-	c.3774C>T	c.(3772-3774)AAC>AAT	p.N1258N	NELF_uc004cmz.1_5'Flank|NELF_uc004cna.1_5'Flank|NELF_uc004cnb.1_5'Flank|NELF_uc004cnc.1_5'Flank|PNPLA7_uc004cnd.1_Silent_p.N480N|PNPLA7_uc004cne.1_Silent_p.N499N|PNPLA7_uc004cnf.2_Silent_p.N1233N	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1233					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity				0	all_cancers(76;0.126)													0.305556	29.510773	30.725211	11	25	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	Silent	SNP	139475876	139475876	12597	9	G	A	A	40	40	PNPLA7	A	1	1
CACNA1B	774	broad.mit.edu	36	9	140061294	140061294	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:140061294G>A	uc004cog.1	+	c.3531G>A	c.(3529-3531)TCG>TCA	p.S1177S	CACNA1B_uc004coh.1_Silent_p.S778S|CACNA1B_uc004coi.1_Silent_p.S387S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1177	Extracellular (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)				Amlodipine(DB00381)|Gabapentin(DB00996)									0.26087	13.640862	14.830745	6	17	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Silent	SNP	140061294	140061294	2655	9	G	A	A	38	38	CACNA1B	A	1	1
FREM1	158326	broad.mit.edu	36	9	14832398	14832398	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:14832398C>T	uc003zlm.1	-	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	FREM1_uc010mic.1_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	552	CSPG 3.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5														0.384211	205.439684	207.668957	73	117	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;3.53e-06)	Missense_Mutation	SNP	14832398	14832398	6291	9	C	T	T	27	27	FREM1	T	1	1
DOCK8	81704	broad.mit.edu	36	9	302114	302114	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:302114G>A	uc003zgf.1	+	c.689G>A	c.(688-690)CGG>CAG	p.R230Q	DOCK8_uc003zgi.1_Missense_Mutation_p.R162Q|DOCK8_uc010mgu.1_5'UTR|DOCK8_uc010mgv.1_Missense_Mutation_p.R162Q|DOCK8_uc010mgt.1_Missense_Mutation_p.R162Q|DOCK8_uc003zgg.1_Missense_Mutation_p.R162Q|DOCK8_uc003zgh.1_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	230					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)												0.308411	93.746747	97.240751	33	74	GG		KEEP	---	---	---	---	capture		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	Missense_Mutation	SNP	302114	302114	4877	9	G	A	A	39	39	DOCK8	A	1	1
DNAI1	27019	broad.mit.edu	36	9	34504433	34504433	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:34504433C>T	uc003zum.1	+	c.1611C>T	c.(1609-1611)GAC>GAT	p.D537D		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	537					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)													0.288973	201.106956	211.598191	76	187	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	Silent	SNP	34504433	34504433	4792	9	C	T	T	19	19	DNAI1	T	1	1
TLN1	7094	broad.mit.edu	36	9	35714073	35714073	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35714073G>A	uc003zxt.1	-	c.658C>T	c.(658-660)CGA>TGA	p.R220*	TLN1_uc003zxu.2_Nonsense_Mutation_p.R220*	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	220	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)									587				0.322404	160.864986	165.988189	59	124	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Nonsense_Mutation	SNP	35714073	35714073	16477	9	G	A	A	40	40	TLN1	A	5	1
OR2S2	56656	broad.mit.edu	36	9	35948057	35948057	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35948057G>A	uc003zyt.2	-	c.9C>T	c.(7-9)TTC>TTT	p.F3F		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						Pancreas(172;293 2036 17878 24427 30946)								0.308824	59.248622	61.463956	21	47	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		Silent	SNP	35948057	35948057	11421	9	G	A	A	37	37	OR2S2	A	1	1
RG9MTD3	158234	broad.mit.edu	36	9	37753649	37753649	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:37753649C>T	uc004aai.1	+	c.319C>T	c.(319-321)CGT>TGT	p.R107C	RG9MTD3_uc004aaj.1_Non-coding_Transcript|RG9MTD3_uc004aak.1_Missense_Mutation_p.R12C	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	RNA (guanine-9-) methyltransferase domain	107							methyltransferase activity				0														0.305085	94.246639	98.251637	36	82	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)	Missense_Mutation	SNP	37753649	37753649	13746	9	C	T	T	19	19	RG9MTD3	T	1	1
GLIS3	169792	broad.mit.edu	36	9	4108572	4108572	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:4108572C>T	uc003zhx.1	-	c.906G>A	c.(904-906)GCG>GCA	p.A302A	GLIS3_uc003zic.1_Silent_p.A302A|GLIS3_uc003zie.1_Silent_p.A302A|GLIS3_uc010mhh.1_Silent_p.A177A|GLIS3_uc003zid.1_Silent_p.A80A|GLIS3_uc010mhi.1_Silent_p.A109A|GLIS3_uc003zif.1_Silent_p.A80A|GLIS3_uc003zih.1_Silent_p.A80A|GLIS3_uc003zig.1_Silent_p.A146A|GLIS3_uc003zhw.1_Silent_p.A147A|GLIS3_uc003zhy.1_Silent_p.A80A|GLIS3_uc003zhz.1_Silent_p.A80A|GLIS3_uc003zib.1_Silent_p.A146A|GLIS3_uc010mhg.1_Silent_p.A80A	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform a	147	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter		DNA binding|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)												0.393939	142.174506	143.472299	52	80	CC		KEEP	---	---	---	---	capture		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	Silent	SNP	4108572	4108572	6715	9	C	T	T	27	27	GLIS3	T	1	1
JAK2	3717	broad.mit.edu	36	9	5062541	5062541	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5062541G>A	uc010mhm.1	+	c.1691G>A	c.(1690-1692)CGA>CAA	p.R564Q	JAK2_uc003ziw.1_Missense_Mutation_p.R564Q	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	564	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.R564L(3)|p.R564Q(2)	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28274)|lung(5)|breast(4)|ovary(1)|liver(1)	28285	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)						1		432				0.264706	71.479831	76.583415	27	75	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Missense_Mutation	SNP	5062541	5062541	8242	9	G	A	A	37	37	JAK2	A	1	1
KIAA2026	158358	broad.mit.edu	36	9	5912868	5912868	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:5912868G>A	uc003zjq.2	-	c.3128C>T	c.(3127-3129)CCG>CTG	p.P1043L	KIAA2026_uc010mht.1_Missense_Mutation_p.P218L	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1043										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)												0.462264	154.267509	154.398444	49	57	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	Missense_Mutation	SNP	5912868	5912868	8581	9	G	A	A	39	39	KIAA2026	A	1	1
UHRF2	115426	broad.mit.edu	36	9	6488129	6488129	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6488129C>T	uc003zjy.1	+	c.1879C>T	c.(1879-1881)CGG>TGG	p.R627W	UHRF2_uc003zjz.1_Non-coding_Transcript|UHRF2_uc003zkb.1_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	627	Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(23;0.158)												0.444444	110.493136	110.710254	36	45	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	Missense_Mutation	SNP	6488129	6488129	17528	9	C	T	T	19	19	UHRF2	T	1	1
GLDC	2731	broad.mit.edu	36	9	6544769	6544769	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6544769G>A	uc003zkc.1	-	c.2215C>T	c.(2215-2217)CGC>TGC	p.R739C		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	739					glycine catabolic process|oxidation-reduction process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)			Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.526316	31.050151	31.061553	10	9	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Missense_Mutation	SNP	6544769	6544769	6701	9	G	A	A	37	37	GLDC	A	1	1
KANK1	23189	broad.mit.edu	36	9	700965	700965	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:700965C>T	uc003zgl.1	+	c.199C>T	c.(199-201)CGG>TGG	p.R67W	KANK1_uc003zgm.2_Missense_Mutation_p.R67W|KANK1_uc003zgn.1_Missense_Mutation_p.R67W|KANK1_uc003zgo.1_Missense_Mutation_p.R67W|KANK1_uc003zgp.1_Missense_Mutation_p.R67W|KANK1_uc003zgq.2_5'UTR|KANK1_uc003zgr.1_5'UTR|KANK1_uc003zgs.1_5'UTR	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	67					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)												0.42735	141.74038	142.275434	50	67	CC		KEEP	---	---	---	---	capture		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	Missense_Mutation	SNP	700965	700965	8280	9	C	T	T	27	27	KANK1	T	1	1
KLF9	687	broad.mit.edu	36	9	72192736	72192736	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:72192736G>A	uc004aht.1	-	c.511C>T	c.(511-513)CGG>TGG	p.R171W		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Kruppel-like factor 9	171					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.571429	73.001835	73.188031	24	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72192736	72192736	8665	9	G	A	A	40	40	KLF9	A	1	1
PCSK5	5125	broad.mit.edu	36	9	77900754	77900754	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:77900754C>T	uc004ajz.1	+	c.1023C>T	c.(1021-1023)AGC>AGT	p.S341S	PCSK5_uc004ajy.1_Silent_p.S341S|PCSK5_uc004aka.1_Non-coding_Transcript	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	341	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3														0.408163	108.844931	109.574862	40	58	CC		KEEP	---	---	---	---	capture			Silent	SNP	77900754	77900754	12024	9	C	T	T	27	27	PCSK5	T	1	1
UBQLN1	29979	broad.mit.edu	36	9	85469780	85469780	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:85469780G>A	uc004amv.1	-	c.1433C>T	c.(1432-1434)CCG>CTG	p.P478L	UBQLN1_uc004amw.1_Missense_Mutation_p.P450L	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	478					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0						Melanoma(186;1284 2073 12755 14558 18426)								0.37931	96.659409	97.769069	33	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	85469780	85469780	17454	9	G	A	A	39	39	UBQLN1	A	1	1
SECISBP2	79048	broad.mit.edu	36	9	91162768	91162768	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:91162768C>T	uc004aqj.1	+	c.2303C>T	c.(2302-2304)GCG>GTG	p.A768V	SECISBP2_uc004aqk.1_Missense_Mutation_p.A695V|SECISBP2_uc010mqo.1_Missense_Mutation_p.A473V	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	768					translation	nucleus	mRNA 3'-UTR binding			ovary(2)	2														0.4	32.08183	32.347066	12	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	91162768	91162768	14492	9	C	T	T	27	27	SECISBP2	T	1	1
ROR2	4920	broad.mit.edu	36	9	93526442	93526442	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:93526442C>T	uc004arj.1	-	c.2155G>A	c.(2155-2157)GCC>ACC	p.A719T	ROR2_uc004ari.1_Missense_Mutation_p.A579T	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	719	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(6)|central_nervous_system(5)|ovary(3)|large_intestine(2)	16										461				0.408451	79.510391	80.014914	29	42	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	93526442	93526442	14006	9	C	T	T	27	27	ROR2	T	1	1
FAM120A	23196	broad.mit.edu	36	9	95300949	95300949	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:95300949G>A	uc004atw.1	+	c.990G>A	c.(988-990)GCG>GCA	p.A330A	FAM120A_uc004atv.2_Silent_p.A330A|FAM120A_uc004atx.2_Silent_p.A112A|FAM120A_uc004aty.1_Silent_p.A112A	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	hypothetical protein LOC23196	330						cytoplasm|plasma membrane	RNA binding				0														0.337662	297.002017	304.182114	104	204	GG		KEEP	---	---	---	---	capture			Silent	SNP	95300949	95300949	5612	9	G	A	A	37	37	FAM120A	A	1	1
PTCH1	5727	broad.mit.edu	36	9	97255639	97255639	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:97255639C>T	uc004avk.2	-	c.3391G>A	c.(3391-3393)GTG>ATG	p.V1131M	PTCH1_uc010mro.1_Missense_Mutation_p.V980M|PTCH1_uc010mrp.1_Missense_Mutation_p.V980M|PTCH1_uc010mrq.1_Missense_Mutation_p.V980M|PTCH1_uc004avl.2_Missense_Mutation_p.V980M|PTCH1_uc010mrr.1_Missense_Mutation_p.V1065M|PTCH1_uc004avm.2_Missense_Mutation_p.V1130M	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	patched isoform L	1131	Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(229)|central_nervous_system(43)|bone(33)|upper_aerodigestive_tract(10)|lung(5)|large_intestine(4)|oesophagus(3)|ovary(3)|breast(2)|vulva(1)	333		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)								509				0.356436	97.572794	99.405896	36	65	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	97255639	97255639	13184	9	C	T	T	19	19	PTCH1	T	1	1
TRIM14	9830	broad.mit.edu	36	9	99902161	99902161	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99902161G>A	uc004ayd.1	-	c.410C>T	c.(409-411)ACG>ATG	p.T137M	TRIM14_uc004ayf.1_Missense_Mutation_p.T44M|TRIM14_uc004ayg.1_Missense_Mutation_p.T137M|TRIM14_uc004ayh.1_Missense_Mutation_p.T137M|TRIM14_uc004ayi.1_Missense_Mutation_p.T137M|TRIM14_uc004ayj.1_Missense_Mutation_p.T44M	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	137	Potential.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				Colon(14;460 597 13826 51781)								0.418478	227.743171	228.810253	77	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99902161	99902161	17033	9	G	A	A	40	40	TRIM14	A	1	1
DRP2	1821	broad.mit.edu	36	X	100392113	100392113	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:100392113G>A	uc004egz.2	+	c.1586G>A	c.(1585-1587)CGC>CAC	p.R529H		NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	529					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2														0.355263	213.604603	217.814941	81	147	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100392113	100392113	4948	23	G	A	A	38	38	DRP2	A	1	1
CLCN4	1183	broad.mit.edu	36	X	10136152	10136152	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:10136152C>T	uc004csy.2	+	c.911C>T	c.(910-912)ACG>ATG	p.T304M		NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	304	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)	4						Melanoma(74;1050 1296 1576 30544 38374)								0.408511	563.245748	566.671857	192	278	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10136152	10136152	3601	23	C	T	T	19	19	CLCN4	T	1	1
RAB40A	142684	broad.mit.edu	36	X	102642164	102642164	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102642164G>A	uc004ekk.1	-	c.177C>T	c.(175-177)GAC>GAT	p.D59D	RAB40A_uc010nop.1_Silent_p.D59D	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	59					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0														0.354651	164.311558	167.519388	61	111	GG		KEEP	---	---	---	---	capture			Silent	SNP	102642164	102642164	13398	23	G	A	A	40	40	RAB40A	A	1	1
MORF4L2	9643	broad.mit.edu	36	X	102818542	102818542	+	Missense_Mutation	SNP	G	T	T			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102818542G>T	uc004ekw.1	-	c.70C>A	c.(70-72)CCA>ACA	p.P24T	MORF4L2_uc004ekx.1_Missense_Mutation_p.P24T|MORF4L2_uc004eky.1_Missense_Mutation_p.P24T|MORF4L2_uc004ekz.1_Missense_Mutation_p.P24T|MORF4L2_uc004ela.1_Missense_Mutation_p.P24T|MORF4L2_uc004elb.1_Missense_Mutation_p.P24T|MORF4L2_uc004elf.1_Missense_Mutation_p.P24T|MORF4L2_uc004elc.1_Missense_Mutation_p.P24T|MORF4L2_uc004eld.1_Missense_Mutation_p.P24T|MORF4L2_uc004ele.1_Missense_Mutation_p.P24T|MORF4L2_uc010nos.1_Missense_Mutation_p.P24T	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	24					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0														0.356209	311.687727	317.261997	109	197	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102818542	102818542	10098	23	G	T	T	44	44	MORF4L2	T	3	3
ESX1	80712	broad.mit.edu	36	X	103381917	103381917	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:103381917C>T	uc004ely.1	-	c.869G>A	c.(868-870)CGC>CAC	p.R290H		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	extraembryonic, spermatogenesis, homeobox	290	6.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				regulation of cell cycle|regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity			ovary(1)	1						Pancreas(200;1705 2227 25194 28471 45274)								0.523077	95.641673	95.671261	34	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	103381917	103381917	5456	23	C	T	T	27	27	ESX1	T	1	1
ACSL4	2182	broad.mit.edu	36	X	108798089	108798089	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:108798089C>T	uc004eoi.2	-	c.1335G>A	c.(1333-1335)CCG>CCA	p.P445P	ACSL4_uc004eoj.2_Silent_p.P404P|ACSL4_uc004eok.2_Silent_p.P404P|ACSL4_uc010npp.1_Silent_p.P445P	NM_022977	NP_004449	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	445	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	Pancreas(188;358 2127 38547 41466 45492)								0.335165	162.310386	166.690172	61	121	CC		KEEP	---	---	---	---	capture			Silent	SNP	108798089	108798089	180	23	C	T	T	27	27	ACSL4	T	1	1
CXorf56	63932	broad.mit.edu	36	X	118560535	118560535	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118560535G>A	uc004erk.1	-	c.474C>T	c.(472-474)ACC>ACT	p.T158T	CXorf56_uc004erj.1_Silent_p.T109T	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	158							protein binding				0														0.289157	202.431672	212.334189	72	177	GG		KEEP	---	---	---	---	capture			Silent	SNP	118560535	118560535	4276	23	G	A	A	39	39	CXorf56	A	1	1
ANKRD58	347454	broad.mit.edu	36	X	118777482	118777482	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:118777482C>T	uc010nql.1	+	c.824C>T	c.(823-825)ACG>ATG	p.T275M		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	ankyrin repeat domain 58	275											0														0.432432	43.59108	43.738872	16	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118777482	118777482	692	23	C	T	T	19	19	ANKRD58	T	1	1
ODZ1	10178	broad.mit.edu	36	X	123615227	123615227	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:123615227C>T	uc010nqy.1	-	c.1256G>A	c.(1255-1257)CGT>CAT	p.R419H	ODZ1_uc004euj.1_Missense_Mutation_p.R419H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1	419	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.309211	240.148854	250.007433	94	210	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123615227	123615227	11239	23	C	T	T	19	19	ODZ1	T	1	1
SMARCA1	6594	broad.mit.edu	36	X	128430542	128430542	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128430542G>A	uc004eun.2	-	c.2587C>T	c.(2587-2589)CGA>TGA	p.R863*	SMARCA1_uc004eup.2_Nonsense_Mutation_p.R851*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	863	SANT 1.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of gene-specific transcription|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding|transcription regulator activity			ovary(3)|skin(1)	4														0.322581	108.354576	111.821441	40	84	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	128430542	128430542	15266	23	G	A	A	40	40	SMARCA1	A	5	1
ZNF280C	55609	broad.mit.edu	36	X	129176983	129176983	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129176983C>T	uc004evm.1	-	c.1844G>A	c.(1843-1845)CGT>CAT	p.R615H	ZNF280C_uc010nrf.1_Missense_Mutation_p.R566H	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3														0.344828	142.112297	145.192671	50	95	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129176983	129176983	18408	23	C	T	T	19	19	ZNF280C	T	1	1
BRS3	680	broad.mit.edu	36	X	135399987	135399987	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:135399987G>A	uc004ezv.1	+	c.464G>A	c.(463-465)CGA>CAA	p.R155Q		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	155	Cytoplasmic (Potential).				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.451852	187.663159	187.935047	61	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135399987	135399987	1553	23	G	A	A	37	37	BRS3	A	1	1
GABRE	2564	broad.mit.edu	36	X	150874173	150874173	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150874173G>A	uc004ffi.1	-	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C	GABRE_uc004ffg.1_Missense_Mutation_p.R248C|GABRE_uc004fff.1_Missense_Mutation_p.R280C|GABRE_uc004ffh.1_Missense_Mutation_p.R280C	NM_004961	NP_068830	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	393	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.384615	13.471166	13.62314	5	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150874173	150874173	6421	23	G	A	A	40	40	GABRE	A	1	1
BGN	633	broad.mit.edu	36	X	152423412	152423412	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152423412C>T	uc004fhr.1	+	c.129C>T	c.(127-129)GGC>GGT	p.G43G	BGN_uc004fhq.1_Non-coding_Transcript	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	43						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.283237	117.855077	125.127015	49	124	CC		KEEP	---	---	---	---	capture			Silent	SNP	152423412	152423412	1442	23	C	T	T	27	27	BGN	T	1	1
ATP2B3	492	broad.mit.edu	36	X	152471722	152471722	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152471722G>A	uc004fht.1	+	c.1859G>A	c.(1858-1860)CGG>CAG	p.R620Q	ATP2B3_uc004fhs.1_Missense_Mutation_p.R620Q	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	620	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.364583	103.308122	104.852858	35	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152471722	152471722	1160	23	G	A	A	39	39	ATP2B3	A	1	1
ATP2B3	492	broad.mit.edu	36	X	152478522	152478522	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152478522C>T	uc004fht.1	+	c.2767C>T	c.(2767-2769)CGC>TGC	p.R923C	ATP2B3_uc004fhs.1_Missense_Mutation_p.R923C|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	923	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.405405	90.83789	91.415937	30	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152478522	152478522	1160	23	C	T	T	23	23	ATP2B3	T	1	1
MECP2	4204	broad.mit.edu	36	X	152950963	152950963	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152950963C>T	uc004fjw.2	-	c.302G>A	c.(301-303)CGT>CAT	p.R101H	MECP2_uc004fjv.2_Missense_Mutation_p.R89H	NM_001110792	NP_001104262	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 2	89					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.36	300.126854	305.298863	108	192	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152950963	152950963	9812	23	C	T	T	19	19	MECP2	T	1	1
FLNA	2316	broad.mit.edu	36	X	153231732	153231732	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153231732G>A	uc004fkk.2	-	c.7194C>T	c.(7192-7194)GGC>GGT	p.G2398G	FLNA_uc004fki.2_Silent_p.G441G|FLNA_uc010nuu.1_Silent_p.G2390G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2398	Filamin 22.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	actin cytoskeleton|cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)									518		OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.322034	197.129155	203.760991	76	160	GG		KEEP	---	---	---	---	capture			Silent	SNP	153231732	153231732	6175	23	G	A	A	38	38	FLNA	A	1	1
REPS2	9185	broad.mit.edu	36	X	17005358	17005358	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:17005358G>A	uc004cxv.1	+	c.1423G>A	c.(1423-1425)GAG>AAG	p.E475K	REPS2_uc004cxw.1_Missense_Mutation_p.E474K	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	475					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2	Hepatocellular(33;0.183)													0.339934	282.829188	289.693006	103	200	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17005358	17005358	13698	23	G	A	A	37	37	REPS2	A	1	1
RAI2	10742	broad.mit.edu	36	X	17729863	17729863	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:17729863G>A	uc004cyf.1	-	c.189C>T	c.(187-189)GCC>GCT	p.A63A	RAI2_uc004cyg.1_Silent_p.A63A|RAI2_uc010nfa.1_Silent_p.A63A|RAI2_uc004cyh.2_Silent_p.A63A|RAI2_uc004cyi.2_Silent_p.A63A	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	63					embryo development					breast(1)	1	Hepatocellular(33;0.183)													0.347107	248.030445	252.976554	84	158	GG		KEEP	---	---	---	---	capture			Silent	SNP	17729863	17729863	13469	23	G	A	A	39	39	RAI2	A	1	1
MAP7D2	256714	broad.mit.edu	36	X	19970644	19970644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:19970644G>A	uc010nfo.1	-	c.904C>T	c.(904-906)CGA>TGA	p.R302*	MAP7D2_uc004czq.1_Nonsense_Mutation_p.R146*|MAP7D2_uc004czr.1_Nonsense_Mutation_p.R261*	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	261										ovary(2)|breast(1)	3														0.439286	364.676854	365.577042	123	157	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19970644	19970644	9651	23	G	A	A	40	40	MAP7D2	A	5	1
KLHL15	80311	broad.mit.edu	36	X	23934677	23934677	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:23934677C>T	uc004dbb.1	-	c.55G>A	c.(55-57)GCT>ACT	p.A19T		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	19										ovary(1)|breast(1)	2														0.328358	54.712772	56.47046	22	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23934677	23934677	8683	23	C	T	T	25	25	KLHL15	T	2	2
MAGEB6	158809	broad.mit.edu	36	X	26122041	26122041	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:26122041C>T	uc004dbr.1	+	c.157C>T	c.(157-159)CGT>TGT	p.R53C	MAGEB6_uc010ngc.1_5'UTR|MAGEB6_uc010ngd.1_Missense_Mutation_p.R53C	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	53	Ser-rich.									ovary(3)	3														0.247934	77.395131	84.386517	30	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26122041	26122041	9560	23	C	T	T	31	31	MAGEB6	T	1	1
FAM47B	170062	broad.mit.edu	36	X	34872477	34872477	+	Silent	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:34872477G>A	uc004ddi.1	+	c.1608G>A	c.(1606-1608)CCG>CCA	p.P536P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	536										ovary(3)|breast(1)	4														0.362694	191.471966	194.683243	70	123	GG		KEEP	---	---	---	---	capture			Silent	SNP	34872477	34872477	5791	23	G	A	A	38	38	FAM47B	A	1	1
BCOR	54880	broad.mit.edu	36	X	39816557	39816557	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:39816557G>A	uc004den.2	-	c.2986C>T	c.(2986-2988)CGG>TGG	p.R996W	BCOR_uc004dep.2_Missense_Mutation_p.R996W|BCOR_uc004deo.2_Missense_Mutation_p.R996W|BCOR_uc004dem.2_Missense_Mutation_p.R996W|BCOR_uc004deq.2_Missense_Mutation_p.R996W	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	996					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.425	50.769602	50.965548	17	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39816557	39816557	1407	23	G	A	A	40	40	BCOR	A	1	1
NYX	60506	broad.mit.edu	36	X	41218461	41218461	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:41218461C>T	uc004dfh.1	+	c.811C>T	c.(811-813)CGC>TGC	p.R271C	NYX_uc004dfi.1_Missense_Mutation_p.R271C	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	271	LRR 9.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2														0.37037	54.815037	55.600445	20	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41218461	41218461	11202	23	C	T	T	27	27	NYX	T	1	1
KDM6A	7403	broad.mit.edu	36	X	44803271	44803271	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:44803271G>A	uc004dge.2	+	c.952G>A	c.(952-954)GCA>ACA	p.A318T	KDM6A_uc004dgf.1_5'Flank|KDM6A_uc010nhk.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	318	TPR 7.				histone H3-K4 methylation|oxidation-reduction process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						Colon(129;1273 1667 15230 27352 52914)				372				0.273292	110.323555	117.784623	44	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44803271	44803271	8443	23	G	A	A	46	46	KDM6A	A	2	2
RP2	6102	broad.mit.edu	36	X	46597907	46597907	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46597907G>A	uc004dgw.2	+	c.155G>A	c.(154-156)CGC>CAC	p.R52H		NM_006915	NP_008846	O75695	XRP2_HUMAN	XRP2 protein	52	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|response to stimulus|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding				0														0.343612	219.205949	224.098241	78	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46597907	46597907	14013	23	G	A	A	38	38	RP2	A	1	1
RBM10	8241	broad.mit.edu	36	X	46891829	46891829	+	Missense_Mutation	SNP	A	G	G			TCGA-32-2616-01	TCGA-32-2616-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:46891829A>G	uc004dhi.1	+	c.200A>G	c.(199-201)GAG>GGG	p.E67G	RBM10_uc004dhf.1_Missense_Mutation_p.E2G|RBM10_uc004dhg.1_Missense_Mutation_p.E2G|RBM10_uc004dhh.1_Missense_Mutation_p.E2G|RBM10_uc010nhq.1_Missense_Mutation_p.E2G|NDUFB11_uc004dhc.1_5'Flank|NDUFB11_uc004dhd.1_5'Flank|RBM10_uc004dhe.1_5'UTR	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	2					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)								0.328947	80.051326	82.021574	25	51	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46891829	46891829	13572	23	A	G	G	11	11	RBM10	G	4	4
PORCN	64840	broad.mit.edu	36	X	48259398	48259398	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48259398C>T	uc010nie.1	+	c.1093C>T	c.(1093-1095)CGG>TGG	p.R365W	PORCN_uc004djr.1_Missense_Mutation_p.R360W|PORCN_uc004djs.1_Missense_Mutation_p.R354W|PORCN_uc004djt.1_Missense_Mutation_p.R283W|PORCN_uc004dju.1_Missense_Mutation_p.R223W|PORCN_uc004djv.1_Missense_Mutation_p.R365W|PORCN_uc004djw.1_Missense_Mutation_p.R359W	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	365	Extracellular (Potential).		R -> G (in FODH).|R -> Q (in FODH).		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3										97				0.38806	79.434703	80.170293	26	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48259398	48259398	12687	23	C	T	T	23	23	PORCN	T	1	1
TBC1D25	4943	broad.mit.edu	36	X	48303000	48303000	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48303000C>T	uc004dka.1	+	c.760C>T	c.(760-762)CGG>TGG	p.R254W	TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	254	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1														0.318841	55.612236	57.632625	22	47	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48303000	48303000	16137	23	C	T	T	27	27	TBC1D25	T	1	1
GRIPAP1	56850	broad.mit.edu	36	X	48716618	48716618	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48716618C>T	uc004dly.1	-	c.2326G>A	c.(2326-2328)GTC>ATC	p.V776I		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	776						early endosome				breast(2)|kidney(1)	3														0.316667	48.61964	50.404766	19	41	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48716618	48716618	7068	23	C	T	T	19	19	GRIPAP1	T	1	1
DGKK	139189	broad.mit.edu	36	X	50183988	50183988	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:50183988C>T	uc010njr.1	-	c.754G>A	c.(754-756)GCG>ACG	p.A252T		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	252	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)													0.268293	54.009232	57.986499	22	60	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50183988	50183988	4651	23	C	T	T	27	27	DGKK	T	1	1
GJB1	2705	broad.mit.edu	36	X	70360980	70360980	+	Missense_Mutation	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70360980C>T	uc004dzf.2	+	c.698C>T	c.(697-699)TCG>TTG	p.S233L	GJB1_uc004dzg.2_Missense_Mutation_p.S233L|GJB1_uc010nlc.1_Missense_Mutation_p.S233L	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	233	Cytoplasmic (Probable).				cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)	1	Renal(35;0.156)													0.368421	37.64182	38.219279	14	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70360980	70360980	6675	23	C	T	T	31	31	GJB1	T	1	1
OGT	8473	broad.mit.edu	36	X	70698433	70698433	+	Silent	SNP	C	T	T			TCGA-32-2616-01	TCGA-32-2616-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70698433C>T	uc004eaa.1	+	c.1935C>T	c.(1933-1935)GGC>GGT	p.G645G	OGT_uc004eab.1_Silent_p.G635G|OGT_uc004eac.2_Silent_p.G506G|OGT_uc004ead.2_Silent_p.G264G	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	645					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)													0.431579	121.103038	121.480553	41	54	CC		KEEP	---	---	---	---	capture			Silent	SNP	70698433	70698433	11252	23	C	T	T	27	27	OGT	T	1	1
SHROOM2	357	broad.mit.edu	36	X	9823933	9823933	+	Missense_Mutation	SNP	G	A	A			TCGA-32-2616-01	TCGA-32-2616-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:9823933G>A	uc004csu.1	+	c.1985G>A	c.(1984-1986)CGC>CAC	p.R662H		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	662					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	6		Hepatocellular(5;0.000888)												0.478261	32.32309	32.332554	11	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9823933	9823933	14789	23	G	A	A	38	38	SHROOM2	A	1	1
PHLPP1	23239	broad.mit.edu	36	18	58790866	58790867	+	Frame_Shift_Ins	INS	-	A	A			TCGA-32-2616-01	TCGA-32-2616-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:58790866_58790867insA	uc002lis.1	+	c.2164_2165insA	c.(2164-2166)CAAfs	p.Q722fs		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1234	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0														0.42			22	31				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	58790866	58790867	12278	18	-	A	A	25	25	PHLPP1	A	5	5
LARP7	51574	broad.mit.edu	36	4	113787979	113787980	+	Frame_Shift_Ins	INS	-	A	A			TCGA-32-2616-01	TCGA-32-2616-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113787979_113787980insA	uc003iaz.1	+	c.843_844insA	c.(841-846)AAGAAAfs	p.K281fs	LARP7_uc003iay.1_Frame_Shift_Ins_p.K274fs|LARP7_uc003iba.1_Frame_Shift_Ins_p.K195fs|LARP7_uc003ibb.1_Frame_Shift_Ins_p.K274fs	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	274_275	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)										0.37			43	73				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	113787979	113787980	8956	4	-	A	A	33	33	LARP7	A	5	5
C6orf27	80737	broad.mit.edu	36	6	31849179	31849180	+	Frame_Shift_Ins	INS	-	T	T			TCGA-32-2616-01	TCGA-32-2616-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31849179_31849180insT	uc003nxb.2	-	c.735_736insA	c.(733-738)CACGGGfs	p.H245fs	C6orf27_uc003nxd.2_Intron	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein	245_246						extracellular region				ovary(3)	3														0.35			8	15				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	31849179	31849180	2467	6	-	T	T	23	23	C6orf27	T	5	5
PLXNB3	5365	broad.mit.edu	36	X	152695884	152695885	+	Frame_Shift_Ins	INS	-	G	G			TCGA-32-2616-01	TCGA-32-2616-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152695884_152695885insG	uc004fii.1	+	c.4955_4956insG	c.(4954-4956)GAGfs	p.E1652fs	SRPK3_uc004fik.1_5'UTR|PLXNB3_uc010nuk.1_Frame_Shift_Ins_p.E1675fs	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3	1652	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)													0.43			6	8				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	152695884	152695885	12551	23	-	G	G	11	11	PLXNB3	G	5	5
