Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
COL17A1	1308	broad.mit.edu	37	10	105817909	105817909	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105817909G>C	uc001kxr.2	-	c.1262C>G	c.(1261-1263)ACT>AGT	p.T421S	COL17A1_uc010qqv.1_Missense_Mutation_p.T405S	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	421	Cytoplasmic (Potential).|Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane				ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)										0.472222	58.873312	58.897457	17	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105817909	105817909	3812	10	G	C	C	C	468	36	COL17A1	3	3
SORCS1	114815	broad.mit.edu	37	10	108377961	108377961	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108377961G>C	uc001kyl.2	-	c.2866C>G	c.(2866-2868)CAG>GAG	p.Q956E	SORCS1_uc001kym.2_Missense_Mutation_p.Q956E|SORCS1_uc009xxs.2_Missense_Mutation_p.Q956E|SORCS1_uc001kyn.1_Missense_Mutation_p.Q956E|SORCS1_uc001kyo.2_Missense_Mutation_p.Q956E	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	956	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.443299	141.00664	141.279004	43	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108377961	108377961	15430	10	G	C	C	C	598	46	SORCS1	3	3
CDNF	441549	broad.mit.edu	37	10	14870148	14870148	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:14870148C>A	uc001inb.1	-	c.239G>T	c.(238-240)CGC>CTC	p.R80L	CDNF_uc010qbv.1_Missense_Mutation_p.R80L|CDNF_uc001inc.1_5'UTR	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	80						extracellular region	growth factor activity				0														0.369231	73.385112	74.361236	24	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14870148	14870148	3297	10	C	A	A	A	351	27	CDNF	1	1
NEBL	10529	broad.mit.edu	37	10	21134261	21134261	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21134261C>A	uc001iqi.2	-	c.1153G>T	c.(1153-1155)GGA>TGA	p.G385*	NEBL_uc001iqj.2_Non-coding_Transcript|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	385	Nebulin 10.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2														0.435484	81.015111	81.240231	27	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21134261	21134261	10702	10	C	A	A	A	312	24	NEBL	5	2
ZEB1	6935	broad.mit.edu	37	10	31810697	31810697	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31810697C>A	uc001ivu.3	+	c.2437C>A	c.(2437-2439)CCC>ACC	p.P813T	ZEB1_uc001ivr.3_Missense_Mutation_p.P594T|ZEB1_uc010qee.1_Missense_Mutation_p.P594T|ZEB1_uc010qef.1_Missense_Mutation_p.P594T|ZEB1_uc009xlj.1_Missense_Mutation_p.P738T|ZEB1_uc010qeg.1_Missense_Mutation_p.P671T|ZEB1_uc009xlk.1_Missense_Mutation_p.P594T|ZEB1_uc001ivs.3_Missense_Mutation_p.P812T|ZEB1_uc001ivt.3_Missense_Mutation_p.P594T|ZEB1_uc001ivv.3_Missense_Mutation_p.P792T|ZEB1_uc010qeh.1_Missense_Mutation_p.P745T|ZEB1_uc009xlo.1_Missense_Mutation_p.P795T|ZEB1_uc009xlp.2_Missense_Mutation_p.P796T	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	812					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.442478	154.349219	154.672058	50	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31810697	31810697	18211	10	C	A	A	A	234	18	ZEB1	2	2
PCDH15	65217	broad.mit.edu	37	10	55892655	55892655	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55892655C>A	uc010qhy.1	-	c.1912G>T	c.(1912-1914)GCT>TCT	p.A638S	PCDH15_uc010qhq.1_Missense_Mutation_p.A638S|PCDH15_uc010qhr.1_Missense_Mutation_p.A633S|PCDH15_uc010qhs.1_Missense_Mutation_p.A645S|PCDH15_uc010qht.1_Missense_Mutation_p.A640S|PCDH15_uc010qhu.1_Missense_Mutation_p.A633S|PCDH15_uc001jjv.1_Missense_Mutation_p.A611S|PCDH15_uc010qhv.1_Missense_Mutation_p.A633S|PCDH15_uc010qhw.1_Missense_Mutation_p.A596S|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhz.1_Missense_Mutation_p.A633S|PCDH15_uc010qia.1_Missense_Mutation_p.A611S|PCDH15_uc001jju.1_Missense_Mutation_p.A633S|PCDH15_uc010qib.1_Missense_Mutation_p.A611S|PCDH15_uc001jjw.2_Missense_Mutation_p.A633S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	633	Cadherin 6.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.357143	43.513116	44.26818	15	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55892655	55892655	11931	10	C	A	A	A	325	25	PCDH15	2	2
STOX1	219736	broad.mit.edu	37	10	70645139	70645139	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70645139G>T	uc001jos.2	+	c.1587G>T	c.(1585-1587)AAG>AAT	p.K529N	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.K419N	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	529						cytoplasm|nucleolus	DNA binding			kidney(1)	1														0.538462	66.183655	66.234873	21	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70645139	70645139	15839	10	G	T	T	T	438	34	STOX1	2	2
DLG5	9231	broad.mit.edu	37	10	79565530	79565530	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79565530C>A	uc001jzk.2	-	c.5057G>T	c.(5056-5058)CGG>CTG	p.R1686L	DLG5_uc001jzi.2_Missense_Mutation_p.R441L|DLG5_uc001jzj.2_Missense_Mutation_p.R1101L|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1686					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)											0.507246	105.555221	105.559515	35	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79565530	79565530	4738	10	C	A	A	A	299	23	DLG5	1	1
GRID1	2894	broad.mit.edu	37	10	87628808	87628808	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:87628808G>T	uc001kdl.1	-	c.910C>A	c.(910-912)CTG>ATG	p.L304M	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	304	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|large_intestine(2)	7					L-Glutamic Acid(DB00142)						Multiple Myeloma(13;0.14)			0.352273	86.896343	88.591037	31	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87628808	87628808	7049	10	G	T	T	T	451	35	GRID1	2	2
SNCG	6623	broad.mit.edu	37	10	88719864	88719864	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88719864C>T	uc001keb.2	+	c.270C>T	c.(268-270)GTC>GTT	p.V90V	MMRN2_uc001kea.2_5'Flank|MMRN2_uc010qmn.1_5'Flank|MMRN2_uc009xtb.2_5'Flank	NM_003087	NP_003078	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein	90						microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding				0														0.454545	14.273173	14.29302	5	6	KEEP	---	---	---	---	capture		Silent	SNP	88719864	88719864	15343	10	C	T	T	T	366	29	SNCG	2	2
EXOC6	54536	broad.mit.edu	37	10	94688135	94688135	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94688135A>T	uc010qnr.1	+	c.976A>T	c.(976-978)AGA>TGA	p.R326*	EXOC6_uc001kie.2_Nonsense_Mutation_p.R305*|EXOC6_uc001kig.2_Nonsense_Mutation_p.R310*|EXOC6_uc009xub.2_Nonsense_Mutation_p.R310*|EXOC6_uc009xuc.2_Nonsense_Mutation_p.R287*|EXOC6_uc001kih.2_Non-coding_Transcript	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform b	310					protein transport|vesicle docking involved in exocytosis	exocyst					0		Colorectal(252;0.123)												0.445946	100.463907	100.652481	33	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	94688135	94688135	5501	10	A	T	T	T	36	3	EXOC6	5	3
CNTN5	53942	broad.mit.edu	37	11	100061912	100061912	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100061912C>A	uc001pga.2	+	c.1635C>A	c.(1633-1635)GAC>GAA	p.D545E	CNTN5_uc009ywv.1_Missense_Mutation_p.D545E|CNTN5_uc001pfz.2_Missense_Mutation_p.D545E|CNTN5_uc001pgb.2_Missense_Mutation_p.D471E|CNTN5_uc010ruk.1_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	545	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.768116	185.705876	190.249016	53	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100061912	100061912	3782	11	C	A	A	A	246	19	CNTN5	1	1
ATM	472	broad.mit.edu	37	11	108143552	108143552	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108143552G>T	uc001pkb.1	+	c.3257G>T	c.(3256-3258)CGC>CTC	p.R1086L	ATM_uc009yxr.1_Missense_Mutation_p.R1086L	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1086					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R1086L(1)		haematopoietic_and_lymphoid_tissue(174)|lung(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)					p.R1086H(SKUT1-Tumor)	1073	TSP Lung(14;0.12)			0.676471	80.537343	81.477597	23	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108143552	108143552	1128	11	G	T	T	T	494	38	ATM	1	1
DLAT	1737	broad.mit.edu	37	11	111921968	111921968	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111921968G>T	uc001pmo.2	+	c.1409G>T	c.(1408-1410)GGG>GTG	p.G470V	DLAT_uc009yyk.1_Missense_Mutation_p.G365V|DLAT_uc010rwr.1_Missense_Mutation_p.G343V	NM_001931	NP_001922	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase precursor	470	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding				0		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)									0.341463	76.370811	78.194098	28	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111921968	111921968	4729	11	G	T	T	T	559	43	DLAT	2	2
APOC3	345	broad.mit.edu	37	11	116701354	116701354	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:116701354G>A	uc001ppt.1	+	c.55_splice	c.e2+1	p.R19_splice		NM_000040	NP_000031			apolipoprotein C-III precursor						Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|reverse cholesterol transport|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GBM(81;259 1650 7161 35190)								0.888889	27.239852	28.551846	8	1	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	116701354	116701354	810	11	G	A	A	A	520	40	APOC3	5	1
PLEKHA7	144100	broad.mit.edu	37	11	16824567	16824567	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16824567C>A	uc010rcu.1	-	c.2109G>T	c.(2107-2109)AGG>AGT	p.R703S	PLEKHA7_uc001mmo.2_Missense_Mutation_p.R703S|PLEKHA7_uc010rcv.1_Missense_Mutation_p.R277S|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R411S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	703	Potential.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.671875	139.046755	140.72721	43	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16824567	16824567	12487	11	C	A	A	A	285	22	PLEKHA7	2	2
NAV2	89797	broad.mit.edu	37	11	20070731	20070731	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20070731C>T	uc001mpr.3	+	c.4360C>T	c.(4360-4362)CTG>TTG	p.L1454L	NAV2_uc001mpp.2_Silent_p.L1390L|NAV2_uc010rdm.1_Silent_p.L1477L|NAV2_uc001mpt.2_Silent_p.L540L|NAV2_uc009yhx.2_Silent_p.L540L|NAV2_uc009yhy.1_Silent_p.L453L|NAV2_uc009yhz.2_Silent_p.L136L	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1477	Ser-rich.					nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.477612	203.618055	203.674233	64	70	KEEP	---	---	---	---	capture		Silent	SNP	20070731	20070731	10580	11	C	T	T	T	259	20	NAV2	2	2
QSER1	79832	broad.mit.edu	37	11	32976924	32976924	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32976924G>T	uc001mty.2	+	c.4196G>T	c.(4195-4197)CGA>CTA	p.R1399L	QSER1_uc001mtz.1_Missense_Mutation_p.R1160L|QSER1_uc001mua.2_Missense_Mutation_p.R904L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1399										ovary(3)|central_nervous_system(2)	5	Breast(20;0.158)													0.142857	4.312266	6.894226	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32976924	32976924	13340	11	G	T	T	T	481	37	QSER1	1	1
CSTF3	1479	broad.mit.edu	37	11	33129503	33129503	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33129503C>A	uc001muh.2	-	c.302G>T	c.(301-303)TGG>TTG	p.W101L		NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	101	HAT 2.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0														0.263158	27.031645	28.960046	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33129503	33129503	4127	11	C	A	A	A	273	21	CSTF3	2	2
STIM1	6786	broad.mit.edu	37	11	4091385	4091385	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4091385T>C	uc001lyv.2	+	c.743T>C	c.(742-744)TTG>TCG	p.L248S	STIM1_uc009yef.2_Missense_Mutation_p.L248S|STIM1_uc009yeg.2_Missense_Mutation_p.L75S	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	248	Cytoplasmic (Potential).|Potential.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)										0.538462	103.179557	103.261098	35	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4091385	4091385	15803	11	T	C	C	C	819	63	STIM1	4	4
OR4C46	119749	broad.mit.edu	37	11	51515365	51515365	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515365G>T	uc010ric.1	+	c.84G>T	c.(82-84)GTG>GTT	p.V28V		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.488722	205.069824	205.084544	65	68	KEEP	---	---	---	---	capture		Silent	SNP	51515365	51515365	11458	11	G	T	T	T	613	48	OR4C46	2	2
TRIM48	79097	broad.mit.edu	37	11	55032720	55032720	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55032720T>A	uc010rid.1	+	c.389T>A	c.(388-390)CTG>CAG	p.L130Q		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	114	B box-type.					intracellular	zinc ion binding				0														0.666667	53.705451	54.295288	16	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55032720	55032720	17068	11	T	A	A	A	715	55	TRIM48	3	3
OR8H1	219469	broad.mit.edu	37	11	56058177	56058177	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56058177C>A	uc010rje.1	-	c.362G>T	c.(361-363)CGC>CTC	p.R121L		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.870588	253.307125	264.677464	74	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56058177	56058177	11648	11	C	A	A	A	351	27	OR8H1	1	1
OR8H1	219469	broad.mit.edu	37	11	56058181	56058181	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56058181C>G	uc010rje.1	-	c.358G>C	c.(358-360)GAT>CAT	p.D120H		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.86747	274.963315	285.852228	72	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56058181	56058181	11648	11	C	G	G	G	377	29	OR8H1	3	3
OR8J1	219477	broad.mit.edu	37	11	56128532	56128532	+	Silent	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56128532T>A	uc010rjh.1	+	c.810T>A	c.(808-810)ACT>ACA	p.T270T		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.875	197.244569	206.037276	56	8	KEEP	---	---	---	---	capture		Silent	SNP	56128532	56128532	11652	11	T	A	A	A	704	55	OR8J1	3	3
OR10Q1	219960	broad.mit.edu	37	11	57995704	57995704	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57995704G>T	uc010rkd.1	-	c.644C>A	c.(643-645)CCC>CAC	p.P215H		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.764706	83.842399	86.012705	26	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57995704	57995704	11322	11	G	T	T	T	559	43	OR10Q1	2	2
OR52E4	390081	broad.mit.edu	37	11	5906249	5906249	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5906249G>T	uc010qzs.1	+	c.727G>T	c.(727-729)GGT>TGT	p.G243C	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.223404	49.821359	56.437364	21	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5906249	5906249	11526	11	G	T	T	T	611	47	OR52E4	2	2
OR56A4	120793	broad.mit.edu	37	11	6023495	6023495	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6023495G>A	uc010qzv.1	-	c.884C>T	c.(883-885)ACG>ATG	p.T295M		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.236842	21.957961	24.361687	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6023495	6023495	11545	11	G	A	A	A	520	40	OR56A4	1	1
HPX	3263	broad.mit.edu	37	11	6452953	6452953	+	Silent	SNP	G	T	T	rs73398890	by1000genomes	TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6452953G>T	uc001mdg.2	-	c.1047C>A	c.(1045-1047)GTC>GTA	p.V349V	HPX_uc001mdf.2_Silent_p.V95V|HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	349	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)										0.19863	69.152691	81.449628	29	117	KEEP	---	---	---	---	capture		Silent	SNP	6452953	6452953	7638	11	G	T	T	T	470	37	HPX	1	1
EIF1AD	84285	broad.mit.edu	37	11	65767113	65767113	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65767113C>T	uc001ogm.1	-	c.230G>A	c.(229-231)GGA>GAA	p.G77E	EIF1AD_uc001ogn.1_Missense_Mutation_p.G77E|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	77	S1-like.					nucleus	translation initiation factor activity				0														0.340909	86.025905	87.993054	30	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65767113	65767113	5180	11	C	T	T	T	390	30	EIF1AD	2	2
ANO1	55107	broad.mit.edu	37	11	70028779	70028779	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70028779G>C	uc001opj.2	+	c.2575G>C	c.(2575-2577)GTG>CTG	p.V859L	ANO1_uc001opl.1_Non-coding_Transcript|ANO1_uc010rqk.1_Missense_Mutation_p.V568L|ANO1_uc010rql.1_Missense_Mutation_p.V33L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	859	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2														0.481481	44.074671	44.082681	13	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70028779	70028779	703	11	G	C	C	C	572	44	ANO1	3	3
USP35	57558	broad.mit.edu	37	11	77907354	77907354	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77907354G>T	uc009yva.1	+	c.63G>T	c.(61-63)CTG>CTT	p.L21L	USP35_uc001oze.2_Intron|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	21					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)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)											0.833333	32.746024	34.005263	10	2	KEEP	---	---	---	---	capture		Silent	SNP	77907354	77907354	17630	11	G	T	T	T	600	47	USP35	2	2
STAB2	55576	broad.mit.edu	37	12	104086627	104086627	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104086627A>G	uc001tjw.2	+	c.3335A>G	c.(3334-3336)GAC>GGC	p.D1112G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1112	Extracellular (Potential).|FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.55	30.391331	30.431536	11	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104086627	104086627	15756	12	A	G	G	G	130	10	STAB2	4	4
KLRC2	3822	broad.mit.edu	37	12	10586496	10586496	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10586496T>C	uc001qyk.2	-	c.377A>G	c.(376-378)AAC>AGC	p.N126S	KLRC3_uc001qyh.2_Intron|KLRC2_uc010she.1_Missense_Mutation_p.N126S	NM_002260	NP_002251	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C,	126	Extracellular (Potential).|C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0														0.8125	242.324766	249.642155	65	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10586496	10586496	8730	12	T	C	C	C	780	60	KLRC2	4	4
TMEM132B	114795	broad.mit.edu	37	12	126135489	126135489	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126135489C>T	uc001uhe.1	+	c.1889C>T	c.(1888-1890)ACC>ATC	p.T630I	TMEM132B_uc001uhf.1_Missense_Mutation_p.T142I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	630	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)										0.434783	55.580672	55.752557	20	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126135489	126135489	16577	12	C	T	T	T	234	18	TMEM132B	2	2
PDE3A	5139	broad.mit.edu	37	12	20523096	20523096	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20523096G>C	uc001reh.1	+	c.878G>C	c.(877-879)AGC>ACC	p.S293T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	293					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)	3	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)									0.583333	20.518896	20.590417	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20523096	20523096	12058	12	G	C	C	C	442	34	PDE3A	3	3
SLCO1B1	10599	broad.mit.edu	37	12	21329791	21329791	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21329791T>G	uc001req.3	+	c.441T>G	c.(439-441)ATT>ATG	p.I147M		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	147	Extracellular (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)									0.792453	156.380929	160.58116	42	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21329791	21329791	15220	12	T	G	G	G	822	64	SLCO1B1	4	4
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			1	11.848696	11.730871	3	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
METTL7A	25840	broad.mit.edu	37	12	51319244	51319244	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51319244G>A	uc001rxb.2	+	c.423G>A	c.(421-423)GTG>GTA	p.V141V	METTL7A_uc010smv.1_Intron	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	141						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0														0.277778	39.904202	42.302282	15	39	KEEP	---	---	---	---	capture		Silent	SNP	51319244	51319244	9895	12	G	A	A	A	600	47	METTL7A	2	2
KCNA5	3741	broad.mit.edu	37	12	5154211	5154211	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5154211G>A	uc001qni.2	+	c.898G>A	c.(898-900)GGC>AGC	p.G300S		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	300			G -> S (in a breast cancer sample; somatic mutation).			Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G300S(2)		ovary(2)|breast(2)	4														0.9375	54.491909	55.835637	15	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5154211	5154211	8311	12	G	A	A	A	507	39	KCNA5	1	1
BIN2	51411	broad.mit.edu	37	12	51693012	51693012	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51693012C>A	uc001ryg.2	-	c.577G>T	c.(577-579)GAG>TAG	p.E193*	BIN2_uc009zlz.2_Nonsense_Mutation_p.E161*|BIN2_uc001ryh.2_Nonsense_Mutation_p.E69*|BIN2_uc010sng.1_Nonsense_Mutation_p.E167*	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	193	BAR.					cytoplasm	protein binding			ovary(1)	1														0.348837	39.208378	40.077085	15	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51693012	51693012	1458	12	C	A	A	A	416	32	BIN2	5	2
OR10P1	121130	broad.mit.edu	37	12	56031458	56031458	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56031458C>G	uc010spq.1	+	c.783C>G	c.(781-783)ATC>ATG	p.I261M		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2														0.518519	186.89634	186.928235	56	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56031458	56031458	11321	12	C	G	G	G	382	30	OR10P1	3	3
ANO2	57101	broad.mit.edu	37	12	5721839	5721839	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5721839G>A	uc001qnm.2	-	c.2070C>T	c.(2068-2070)ATC>ATT	p.I690I		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	695	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.185185	22.414984	27.435869	10	44	KEEP	---	---	---	---	capture		Silent	SNP	5721839	5721839	705	12	G	A	A	A	421	33	ANO2	2	2
TRHDE	29953	broad.mit.edu	37	12	72680485	72680485	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72680485G>T	uc001sxa.2	+	c.804G>T	c.(802-804)TCG>TCT	p.S268S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	268	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.533333	136.208625	136.281608	40	35	KEEP	---	---	---	---	capture		Silent	SNP	72680485	72680485	17023	12	G	T	T	T	483	38	TRHDE	1	1
KCNC2	3747	broad.mit.edu	37	12	75601343	75601343	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75601343A>T	uc001sxg.1	-	c.421T>A	c.(421-423)TGG>AGG	p.W141R	KCNC2_uc009zry.2_Missense_Mutation_p.W141R|KCNC2_uc001sxe.2_Missense_Mutation_p.W141R|KCNC2_uc001sxf.2_Missense_Mutation_p.W141R|KCNC2_uc010stw.1_Missense_Mutation_p.W141R	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	141	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6														0.568966	107.082039	107.322848	33	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75601343	75601343	8320	12	A	T	T	T	91	7	KCNC2	3	3
NAV3	89795	broad.mit.edu	37	12	78513153	78513153	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78513153G>A	uc001syp.2	+	c.3177G>A	c.(3175-3177)TCG>TCA	p.S1059S	NAV3_uc001syo.2_Silent_p.S1059S|NAV3_uc010sub.1_Silent_p.S559S|NAV3_uc009zsf.2_Silent_p.S67S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1059	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.564516	223.866874	224.317826	70	54	KEEP	---	---	---	---	capture		Silent	SNP	78513153	78513153	10581	12	G	A	A	A	470	37	NAV3	1	1
NAV3	89795	broad.mit.edu	37	12	78513155	78513155	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78513155C>A	uc001syp.2	+	c.3179C>A	c.(3178-3180)ACT>AAT	p.T1060N	NAV3_uc001syo.2_Missense_Mutation_p.T1060N|NAV3_uc010sub.1_Missense_Mutation_p.T560N|NAV3_uc009zsf.2_Missense_Mutation_p.T68N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1060	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.552846	215.105821	215.404009	68	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78513155	78513155	10581	12	C	A	A	A	260	20	NAV3	2	2
PPFIA2	8499	broad.mit.edu	37	12	81768424	81768424	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81768424C>T	uc001szo.1	-	c.1255G>A	c.(1255-1257)GCC>ACC	p.A419T	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Non-coding_Transcript|PPFIA2_uc010suh.1_Non-coding_Transcript|PPFIA2_uc010sui.1_Non-coding_Transcript|PPFIA2_uc010suj.1_Non-coding_Transcript|PPFIA2_uc009zsi.1_Non-coding_Transcript	NM_003625	NP_003616	O75334	LIPA2_HUMAN	PTPRF interacting protein alpha 2	419	Glu-rich.|Potential.				cell-matrix adhesion	cell surface|cytoplasm	protein binding			ovary(3)|lung(2)|pancreas(1)	6														0.409091	133.854567	134.648636	45	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81768424	81768424	12740	12	C	T	T	T	364	28	PPFIA2	2	2
LRRIQ1	84125	broad.mit.edu	37	12	85450946	85450946	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85450946G>T	uc001tac.2	+	c.2375G>T	c.(2374-2376)TGG>TTG	p.W792L	LRRIQ1_uc001tab.1_Missense_Mutation_p.W792L|LRRIQ1_uc001taa.1_Missense_Mutation_p.W767L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	792										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.496296	423.843879	423.847084	134	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85450946	85450946	9405	12	G	T	T	T	611	47	LRRIQ1	2	2
CEP290	80184	broad.mit.edu	37	12	88478385	88478385	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88478385C>G	uc001tar.2	-	c.4682G>C	c.(4681-4683)CGT>CCT	p.R1561P	CEP290_uc001taq.2_Missense_Mutation_p.R621P	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1561	Potential.				cell projection organization|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding|transcription activator activity			ovary(5)|breast(1)|pancreas(1)	7														0.253968	46.371093	49.831458	16	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88478385	88478385	3386	12	C	G	G	G	247	19	CEP290	3	3
RNF17	56163	broad.mit.edu	37	13	25338460	25338460	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25338460C>T	uc001upr.2	+	c.119C>T	c.(118-120)TCC>TTC	p.S40F	RNF17_uc010tdd.1_5'UTR|RNF17_uc010aab.2_Non-coding_Transcript|RNF17_uc010tde.1_Missense_Mutation_p.S40F|RNF17_uc001ups.2_Intron|RNF17_uc001upq.1_Missense_Mutation_p.S40F	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	40	RING-type.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)	1		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)										0.888889	27.372113	28.652098	8	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25338460	25338460	13938	13	C	T	T	T	390	30	RNF17	2	2
RNF17	56163	broad.mit.edu	37	13	25439108	25439108	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25439108C>A	uc001upr.2	+	c.4073C>A	c.(4072-4074)TCT>TAT	p.S1358Y	RNF17_uc010aab.2_Non-coding_Transcript|RNF17_uc010tde.1_Missense_Mutation_p.S1354Y|RNF17_uc001ups.2_Missense_Mutation_p.S1297Y|RNF17_uc010aac.2_Missense_Mutation_p.S550Y|RNF17_uc010aad.2_Intron	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1358					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)	1		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)										0.076923	-0.507533	6.64037	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25439108	25439108	13938	13	C	A	A	A	416	32	RNF17	2	2
SLITRK1	114798	broad.mit.edu	37	13	84454840	84454840	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84454840T>A	uc001vlk.2	-	c.803A>T	c.(802-804)GAT>GTT	p.D268V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	268	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.583333	21.926153	21.998814	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84454840	84454840	15240	13	T	A	A	A	650	50	SLITRK1	3	3
OSGEP	55644	broad.mit.edu	37	14	20922834	20922834	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20922834C>T	uc001vxf.2	-	c.9G>A	c.(7-9)GCG>GCA	p.A3A	APEX1_uc001vxg.2_5'Flank|APEX1_uc001vxh.2_5'Flank|APEX1_uc001vxi.2_5'Flank|APEX1_uc001vxj.2_5'Flank	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	3					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)										0.662162	160.997513	162.72067	49	25	KEEP	---	---	---	---	capture		Silent	SNP	20922834	20922834	11698	14	C	T	T	T	288	23	OSGEP	1	1
LRFN5	145581	broad.mit.edu	37	14	42368154	42368154	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42368154G>T	uc001wvm.2	+	c.2133G>T	c.(2131-2133)CAG>CAT	p.Q711H	LRFN5_uc010ana.2_3'UTR	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	711	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.206349	30.937455	35.975002	13	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42368154	42368154	9314	14	G	T	T	T	451	35	LRFN5	2	2
C14orf28	122525	broad.mit.edu	37	14	45369750	45369750	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45369750G>T	uc001wvo.2	+	c.112G>T	c.(112-114)GGC>TGC	p.G38C	C14orf28_uc001wvp.1_Missense_Mutation_p.G38C	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	hypothetical protein LOC122525	38										ovary(1)	1														0.264706	23.058153	24.7606	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45369750	45369750	1819	14	G	T	T	T	611	47	C14orf28	2	2
KLHL28	54813	broad.mit.edu	37	14	45400639	45400639	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45400639C>A	uc001wvq.2	-	c.1449G>T	c.(1447-1449)GTG>GTT	p.V483V	KLHL28_uc001wvr.2_Silent_p.V483V	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	483	Kelch 5.										0														0.578947	71.750658	71.956673	22	16	KEEP	---	---	---	---	capture		Silent	SNP	45400639	45400639	8694	14	C	A	A	A	262	21	KLHL28	2	2
NRXN3	9369	broad.mit.edu	37	14	79432671	79432671	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:79432671A>G	uc001xun.2	+	c.1580A>G	c.(1579-1581)AAG>AGG	p.K527R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.K652R	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	900	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.60274	307.521381	308.869515	88	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79432671	79432671	11072	14	A	G	G	G	39	3	NRXN3	4	4
FLRT2	23768	broad.mit.edu	37	14	86088719	86088719	+	Silent	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:86088719A>G	uc001xvr.2	+	c.861A>G	c.(859-861)CAA>CAG	p.Q287Q	FLRT2_uc010atd.2_Silent_p.Q287Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	287	Extracellular (Potential).|LRR 10.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(234;0.0319)										0.249201	220.315852	238.204444	78	235	KEEP	---	---	---	---	capture		Silent	SNP	86088719	86088719	6181	14	A	G	G	G	24	2	FLRT2	4	4
RPS6KA5	9252	broad.mit.edu	37	14	91467469	91467469	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91467469T>C	uc001xys.2	-	c.138A>G	c.(136-138)ATA>ATG	p.I46M	RPS6KA5_uc010twi.1_De_novo_Start_InFrame|RPS6KA5_uc001xyt.2_Missense_Mutation_p.I46M|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	46					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)						302				0.153846	22.106861	29.55317	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91467469	91467469	14134	14	T	C	C	C	680	53	RPS6KA5	4	4
PAPOLA	10914	broad.mit.edu	37	14	97003388	97003388	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:97003388A>T	uc001yfq.2	+	c.1106A>T	c.(1105-1107)CAA>CTA	p.Q369L	PAPOLA_uc001yfr.2_Missense_Mutation_p.Q369L|PAPOLA_uc010twv.1_Missense_Mutation_p.Q369L|PAPOLA_uc010avp.2_Missense_Mutation_p.Q119L	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	369					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		NSCLC(19;254 734 11908 35501 39234)								0.148148	7.182032	10.390725	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97003388	97003388	11846	14	A	T	T	T	65	5	PAPOLA	3	3
PCSK6	5046	broad.mit.edu	37	15	101971605	101971606	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101971605_101971606CC>AA	uc002bxa.2	-	c.576_577GG>TT	c.(574-579)AGGGGC>AGTTGC	p.192_193RG>SC	PCSK6_uc010bpd.2_Missense_Mutation_p.62_63RG>SC|PCSK6_uc002bwy.2_Missense_Mutation_p.192_193RG>SC|PCSK6_uc010bpe.2_Missense_Mutation_p.192_193RG>SC|PCSK6_uc002bxb.2_Missense_Mutation_p.192_193RG>SC|PCSK6_uc002bxc.1_Missense_Mutation_p.192_193RG>SC|PCSK6_uc002bxd.1_Missense_Mutation_p.192_193RG>SC|PCSK6_uc002bxe.2_Missense_Mutation_p.192_193RG>SC|PCSK6_uc002bxg.1_Missense_Mutation_p.192_193RG>SC	NM_138320	NP_612193	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	192_193	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)											0.393939	39.873297	40.196403	13	20	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	101971605	101971606	12025	15	CC	AA	AA	AA	286	22	PCSK6	2	2
C15orf2	23742	broad.mit.edu	37	15	24922227	24922227	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922227G>T	uc001ywo.2	+	c.1213G>T	c.(1213-1215)GTG>TTG	p.V405L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	405	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.30303	54.774006	57.060097	20	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922227	24922227	1834	15	G	T	T	T	624	48	C15orf2	2	2
GABRA5	2558	broad.mit.edu	37	15	27182421	27182421	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27182421C>A	uc001zbd.1	+	c.670C>A	c.(670-672)CAG>AAG	p.Q224K	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	224	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.193548	12.631021	15.348958	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27182421	27182421	6415	15	C	A	A	A	273	21	GABRA5	2	2
TRPM1	4308	broad.mit.edu	37	15	31327786	31327786	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31327786G>T	uc001zfm.2	-	c.2597C>A	c.(2596-2598)TCC>TAC	p.S866Y	TRPM1_uc010azy.2_Missense_Mutation_p.S773Y|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	866	Helical; (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)										0.432432	40.178484	40.328183	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31327786	31327786	17136	15	G	T	T	T	533	41	TRPM1	2	2
C15orf55	256646	broad.mit.edu	37	15	34648891	34648891	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34648891C>A	uc010ucc.1	+	c.2682C>A	c.(2680-2682)CTC>CTA	p.L894L	C15orf55_uc010ucd.1_Silent_p.L884L|C15orf55_uc001zif.2_Silent_p.L866L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	866						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.48	104.29059	104.316934	36	39	KEEP	---	---	---	---	capture		Silent	SNP	34648891	34648891	1853	15	C	A	A	A	379	30	C15orf55	2	2
MEIS2	4212	broad.mit.edu	37	15	37329140	37329140	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:37329140C>A	uc001zjr.2	-	c.775G>T	c.(775-777)GTA>TTA	p.V259L	MEIS2_uc001zjl.2_Missense_Mutation_p.V246L|MEIS2_uc010ucj.1_Missense_Mutation_p.V246L|MEIS2_uc001zjm.2_Missense_Mutation_p.V171L|MEIS2_uc001zjn.2_Missense_Mutation_p.V113L|MEIS2_uc001zjo.2_Missense_Mutation_p.V259L|MEIS2_uc001zjp.2_Missense_Mutation_p.V259L|MEIS2_uc001zjs.2_Missense_Mutation_p.V259L|MEIS2_uc001zju.2_Missense_Mutation_p.V246L|MEIS2_uc001zjt.2_Missense_Mutation_p.V259L	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	259	Asp/Glu-rich (acidic).				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)										0.5	121.074136	121.074136	37	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37329140	37329140	9857	15	C	A	A	A	221	17	MEIS2	2	2
NUSAP1	51203	broad.mit.edu	37	15	41667974	41667974	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41667974G>A	uc001zns.3	+	c.1071G>A	c.(1069-1071)GTG>GTA	p.V357V	NUSAP1_uc001znq.3_Intron|NUSAP1_uc001znr.3_Silent_p.V356V|NUSAP1_uc010bce.2_Intron|NUSAP1_uc001znt.3_Silent_p.V342V|NUSAP1_uc001znv.3_Silent_p.V355V|NUSAP1_uc001znu.3_Silent_p.V356V|NUSAP1_uc010ucw.1_Intron|NUSAP1_uc001znw.3_Silent_p.V161V	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	357	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)										0.275	27.00455	28.83069	11	29	KEEP	---	---	---	---	capture		Silent	SNP	41667974	41667974	11183	15	G	A	A	A	613	48	NUSAP1	2	2
TMEM87A	25963	broad.mit.edu	37	15	42525442	42525442	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42525442G>T	uc010udd.1	-	c.1031C>A	c.(1030-1032)TCT>TAT	p.S344Y	TMEM87A_uc001zpf.3_Missense_Mutation_p.S283Y|TMEM87A_uc010bcu.1_Missense_Mutation_p.S283Y	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	344	Helical; (Potential).					integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)										0.56701	167.728547	168.106854	55	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42525442	42525442	16749	15	G	T	T	T	429	33	TMEM87A	2	2
TGM7	116179	broad.mit.edu	37	15	43571883	43571883	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43571883C>A	uc001zrf.1	-	c.1618G>T	c.(1618-1620)GGT>TGT	p.G540C		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	540					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)									0.592857	246.679547	247.753266	83	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43571883	43571883	16363	15	C	A	A	A	286	22	TGM7	2	2
CEP152	22995	broad.mit.edu	37	15	49048215	49048215	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49048215C>T	uc001zwz.2	-	c.3230G>A	c.(3229-3231)TGT>TAT	p.C1077Y	CEP152_uc001zwy.2_Missense_Mutation_p.C1077Y|CEP152_uc001zxa.1_Missense_Mutation_p.C984Y	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1077					G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center				lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)										0.225	62.118509	70.417914	27	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49048215	49048215	3381	15	C	T	T	T	221	17	CEP152	2	2
UNC13C	440279	broad.mit.edu	37	15	54307916	54307916	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54307916A>G	uc002ack.2	+	c.2816A>G	c.(2815-2817)AAT>AGT	p.N939S		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	939					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.293103	47.674049	49.95323	17	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54307916	54307916	17544	15	A	G	G	G	52	4	UNC13C	4	4
ADAM10	102	broad.mit.edu	37	15	58902605	58902605	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:58902605C>T	uc002afd.1	-	c.1916G>A	c.(1915-1917)TGT>TAT	p.C639Y	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.C338Y|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.C176Y	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	639	Extracellular (Potential).|Cys-rich.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(80;0.202)						515				0.453125	82.262783	82.38578	29	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58902605	58902605	235	15	C	T	T	T	221	17	ADAM10	2	2
CPEB1	64506	broad.mit.edu	37	15	83221331	83221331	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83221331C>A	uc002bit.2	-	c.1294G>T	c.(1294-1296)GTC>TTC	p.V432F	CPEB1_uc002biq.2_Missense_Mutation_p.V292F|CPEB1_uc002bir.2_Missense_Mutation_p.V297F|CPEB1_uc002bis.2_Missense_Mutation_p.V292F|CPEB1_uc010uod.1_Missense_Mutation_p.V141F|CPEB1_uc010uoe.1_Missense_Mutation_p.V370F|CPEB1_uc002biu.2_Missense_Mutation_p.V394F|CPEB1_uc010uof.1_Missense_Mutation_p.V292F|CPEB1_uc002biv.2_Missense_Mutation_p.V367F|CPEB1_uc002bip.2_Missense_Mutation_p.V141F	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	372	RRM 1.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.221374	69.102455	78.464707	29	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83221331	83221331	3938	15	C	A	A	A	221	17	CPEB1	2	2
ABCC1	4363	broad.mit.edu	37	16	16173268	16173268	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:16173268G>A	uc010bvi.2	+	c.2048G>A	c.(2047-2049)GGA>GAA	p.G683E	ABCC1_uc010bvj.2_Missense_Mutation_p.G683E|ABCC1_uc010bvk.2_Missense_Mutation_p.G683E|ABCC1_uc010bvl.2_Missense_Mutation_p.G683E|ABCC1_uc010bvm.2_Missense_Mutation_p.G683E|ABCC1_uc002del.3_Missense_Mutation_p.G567E	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	683	ABC transporter 1.|ATP 1.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)									0.464286	39.772658	39.803714	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16173268	16173268	50	16	G	A	A	A	533	41	ABCC1	2	2
GPR139	124274	broad.mit.edu	37	16	20043969	20043969	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20043969G>T	uc002dgu.1	-	c.150C>A	c.(148-150)ATC>ATA	p.I50I	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	50	Helical; Name=1; (Potential).					integral to membrane|plasma membrane				ovary(2)	2														0.4	42.886489	43.237654	16	24	KEEP	---	---	---	---	capture		Silent	SNP	20043969	20043969	6922	16	G	T	T	T	525	41	GPR139	2	2
ASPHD1	253982	broad.mit.edu	37	16	29916211	29916211	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29916211G>A	uc002dut.2	+	c.988G>A	c.(988-990)GGT>AGT	p.G330S	BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	330	Lumenal (Potential).				oxidation-reduction process|peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity				0														0.5	30.54918	30.54918	10	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29916211	29916211	1073	16	G	A	A	A	507	39	ASPHD1	1	1
SRCAP	10847	broad.mit.edu	37	16	30722385	30722385	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30722385G>T	uc002dze.1	+	c.1294G>T	c.(1294-1296)GAG>TAG	p.E432*	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Nonsense_Mutation_p.E289*|SRCAP_uc010bzz.1_Nonsense_Mutation_p.E2*	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	432	Glu-rich.				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			Colorectal(24;0.198)											0.384615	27.747648	28.049638	10	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30722385	30722385	15649	16	G	T	T	T	533	41	SRCAP	5	2
LONP2	83752	broad.mit.edu	37	16	48330040	48330040	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48330040G>T	uc002efi.1	+	c.1498G>T	c.(1498-1500)GCC>TCC	p.A500S	LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.A456S	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	500					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0														0.491379	179.569318	179.576886	57	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48330040	48330040	9265	16	G	T	T	T	598	46	LONP2	2	2
CDH11	1009	broad.mit.edu	37	16	65026938	65026938	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:65026938C>A	uc002eoi.2	-	c.524_splice	c.e5-1	p.G175_splice	CDH11_uc010cdn.2_Splice_Site_SNP|CDH11_uc002eoj.2_Splice_Site_SNP_p.G175_splice|CDH11_uc010vin.1_Splice_Site_SNP_p.G49_splice	NM_001797	NP_001788			cadherin 11, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.?(1)		lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.389474	104.944625	105.963924	37	58	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	65026938	65026938	3226	16	C	A	A	A	312	24	CDH11	5	2
KCTD19	146212	broad.mit.edu	37	16	67328593	67328593	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67328593A>C	uc002esu.2	-	c.1480T>G	c.(1480-1482)TGG>GGG	p.W494G	KCTD19_uc002est.2_Missense_Mutation_p.W266G|KCTD19_uc010vjj.1_Missense_Mutation_p.W237G	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	494						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)										0.361111	42.867886	43.477995	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67328593	67328593	8412	16	A	C	C	C	104	8	KCTD19	4	4
CNTNAP4	85445	broad.mit.edu	37	16	76555966	76555966	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76555966T>A	uc002fex.1	+	c.2576T>A	c.(2575-2577)GTG>GAG	p.V859E	CNTNAP4_uc002feu.1_Missense_Mutation_p.V856E|CNTNAP4_uc002fev.1_Missense_Mutation_p.V720E|CNTNAP4_uc010chb.1_Missense_Mutation_p.V783E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	856	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.351064	385.778581	393.139234	132	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76555966	76555966	3787	16	T	A	A	A	767	59	CNTNAP4	3	3
RICH2	9912	broad.mit.edu	37	17	12862136	12862136	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12862136G>T	uc002gnr.3	+	c.1445G>T	c.(1444-1446)CGG>CTG	p.R482L	RICH2_uc010vvk.1_Missense_Mutation_p.R482L|RICH2_uc010vvl.1_Missense_Mutation_p.R482L|RICH2_uc002gns.3_Missense_Mutation_p.R282L|RICH2_uc010vvm.1_Missense_Mutation_p.R482L|RICH2_uc010vvn.1_Non-coding_Transcript|RICH2_uc002gnt.1_Missense_Mutation_p.R205L	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	482					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0														0.769231	34.256621	35.120435	10	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12862136	12862136	13832	17	G	T	T	T	507	39	RICH2	1	1
BLMH	642	broad.mit.edu	37	17	28614853	28614853	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28614853C>A	uc002hez.1	-	c.434G>T	c.(433-435)GGC>GTC	p.G145V	BLMH_uc010wbn.1_Missense_Mutation_p.G58V	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	145					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						Pancreas(127;628 1772 12912 33293 36203)								0.410256	46.004729	46.275241	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28614853	28614853	1471	17	C	A	A	A	338	26	BLMH	2	2
KRTAP4-4	84616	broad.mit.edu	37	17	39316933	39316933	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39316933G>T	uc002hwc.2	-	c.11C>A	c.(10-12)TCC>TAC	p.S4Y		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	4						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)											0.370629	144.337792	146.440393	53	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39316933	39316933	8875	17	G	T	T	T	533	41	KRTAP4-4	2	2
IFI35	3430	broad.mit.edu	37	17	41158983	41158983	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41158983G>A	uc010whj.1	+	c.19G>A	c.(19-21)GCC>ACC	p.A7T		NM_005533	NP_005524	P80217	IN35_HUMAN	interferon-induced protein 35	7	Leucine-zipper.				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			ovary(1)	1		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)										0.459459	149.713692	149.872371	51	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41158983	41158983	7817	17	G	A	A	A	598	46	IFI35	2	2
IGF2BP1	10642	broad.mit.edu	37	17	47121403	47121403	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47121403G>A	uc002iom.2	+	c.1275G>A	c.(1273-1275)GGG>GGA	p.G425G	IGF2BP1_uc010dbj.2_Silent_p.G286G	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	425	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.466019	139.903278	140.003606	48	55	KEEP	---	---	---	---	capture		Silent	SNP	47121403	47121403	7874	17	G	A	A	A	535	42	IGF2BP1	2	2
DCAF7	10238	broad.mit.edu	37	17	61628127	61628127	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61628127A>G	uc002jbc.2	+	c.89A>G	c.(88-90)AAG>AGG	p.K30R	DCAF7_uc002jbb.2_Non-coding_Transcript|DCAF7_uc010wpn.1_Missense_Mutation_p.K30R	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	30					multicellular organismal development|protein ubiquitination	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1														0.307692	12.095812	12.524005	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61628127	61628127	4446	17	A	G	G	G	39	3	DCAF7	4	4
DLG4	1742	broad.mit.edu	37	17	7097798	7097798	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7097798C>T	uc002get.3	-	c.1447G>A	c.(1447-1449)GAC>AAC	p.D483N	DLG4_uc010vtm.1_Non-coding_Transcript|DLG4_uc010vtn.1_Missense_Mutation_p.D380N|DLG4_uc010cly.2_Missense_Mutation_p.D437N|DLG4_uc010vto.1_Missense_Mutation_p.D480N	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	440	SH3.				axon guidance|learning|protein complex assembly|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2														1	34.394242	34.392288	9	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7097798	7097798	4737	17	C	T	T	T	403	31	DLG4	1	1
C17orf74	201243	broad.mit.edu	37	17	7330299	7330299	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7330299G>A	uc002ggw.2	+	c.989G>A	c.(988-990)CGG>CAG	p.R330Q	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	330						integral to membrane					0		Prostate(122;0.157)												0.461538	19.248809	19.265558	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7330299	7330299	1937	17	G	A	A	A	507	39	C17orf74	1	1
PIK3R5	23533	broad.mit.edu	37	17	8790535	8790535	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8790535G>T	uc002glt.2	-	c.1783C>A	c.(1783-1785)CTG>ATG	p.L595M	PIK3R5_uc010vuz.1_Missense_Mutation_p.L595M|PIK3R5_uc002glu.3_Missense_Mutation_p.L209M	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	595					platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.888889	53.313632	56.002834	16	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8790535	8790535	12346	17	G	T	T	T	438	34	PIK3R5	2	2
CEP192	55125	broad.mit.edu	37	18	13040877	13040877	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13040877G>A	uc010xac.1	+	c.1858G>A	c.(1858-1860)GCC>ACC	p.A620T	CEP192_uc010dlf.1_Intron|CEP192_uc010xad.1_Missense_Mutation_p.A145T|CEP192_uc002kru.2_Non-coding_Transcript|CEP192_uc002krs.1_Missense_Mutation_p.A361T	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	620										ovary(4)|pancreas(1)	5														0.415929	135.699927	136.398378	47	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13040877	13040877	3384	18	G	A	A	A	598	46	CEP192	2	2
DSC3	1825	broad.mit.edu	37	18	28604434	28604434	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28604434T>C	uc002kwj.3	-	c.656A>G	c.(655-657)GAT>GGT	p.D219G	DSC3_uc002kwi.3_Missense_Mutation_p.D219G	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	219	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(10;0.125)											0.470588	56.499139	56.52462	16	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28604434	28604434	4951	18	T	C	C	C	650	50	DSC3	4	4
MALT1	10892	broad.mit.edu	37	18	56409163	56409163	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56409163A>T	uc002lhm.1	+	c.1670A>T	c.(1669-1671)AAG>ATG	p.K557M	MALT1_uc002lhn.1_Missense_Mutation_p.K546M	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	557	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell activation|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|central_nervous_system(1)	3										549				0.355932	59.256617	60.336272	21	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56409163	56409163	9585	18	A	T	T	T	39	3	MALT1	3	3
TMX3	54495	broad.mit.edu	37	18	66378620	66378620	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:66378620T>A	uc002lkf.2	-	c.122A>T	c.(121-123)GAT>GTT	p.D41V	TMX3_uc010xez.1_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.D41V|TMX3_uc002lkg.3_Missense_Mutation_p.D41V	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	41	Thioredoxin.|Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0														0.486486	56.84778	56.853676	18	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66378620	66378620	16809	18	T	A	A	A	650	50	TMX3	3	3
NETO1	81832	broad.mit.edu	37	18	70417314	70417314	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70417314G>A	uc002lkw.2	-	c.1524C>T	c.(1522-1524)CAC>CAT	p.H508H	NETO1_uc002lkx.1_Silent_p.H507H|NETO1_uc002lky.1_Silent_p.H508H	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	508	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.184211	30.108941	37.21568	14	62	KEEP	---	---	---	---	capture		Silent	SNP	70417314	70417314	10738	18	G	A	A	A	516	40	NETO1	1	1
TSHZ1	10194	broad.mit.edu	37	18	73000431	73000431	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:73000431G>T	uc002lly.2	+	c.2934G>T	c.(2932-2934)CTG>CTT	p.L978L		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	1023					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)										0.421875	78.305348	78.647891	27	37	KEEP	---	---	---	---	capture		Silent	SNP	73000431	73000431	17174	18	G	T	T	T	600	47	TSHZ1	2	2
ZNF236	7776	broad.mit.edu	37	18	74640002	74640002	+	Missense_Mutation	SNP	G	T	T	rs76679748	by1000genomes	TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74640002G>T	uc002lmi.2	+	c.4528G>T	c.(4528-4530)GCT>TCT	p.A1510S	ZNF236_uc002lmj.2_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1510					cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)										0.418182	67.31535	67.63645	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74640002	74640002	18380	18	G	T	T	T	494	38	ZNF236	1	1
NFATC1	4772	broad.mit.edu	37	18	77170932	77170932	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77170932G>T	uc010xfg.1	+	c.657G>T	c.(655-657)GAG>GAT	p.E219D	NFATC1_uc002lnc.1_Missense_Mutation_p.E219D|NFATC1_uc010xff.1_Missense_Mutation_p.E219D|NFATC1_uc002lnd.2_Missense_Mutation_p.E219D|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.E219D|NFATC1_uc010xfi.1_Missense_Mutation_p.E206D|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.E206D|NFATC1_uc002lng.2_Missense_Mutation_p.E206D|NFATC1_uc010xfk.1_Missense_Mutation_p.E206D	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	219	1.|3 X SP repeats.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GBM(151;1210 2593 28719 45011)				1639				0.5	6.349915	6.349915	2	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77170932	77170932	10761	18	G	T	T	T	451	35	NFATC1	2	2
SLC27A1	376497	broad.mit.edu	37	19	17608205	17608205	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17608205G>A	uc002ngu.1	+	c.1138G>A	c.(1138-1140)GTA>ATA	p.V380I	SLC27A1_uc002ngt.1_Missense_Mutation_p.V112I|SLC27A1_uc010xpp.1_Missense_Mutation_p.V201I|SLC27A1_uc002ngv.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	380	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0														0.4	17.447437	17.578448	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17608205	17608205	15022	19	G	A	A	A	520	40	SLC27A1	1	1
JAK3	3718	broad.mit.edu	37	19	17949164	17949164	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17949164T>A	uc002nhn.3	-	c.1477A>T	c.(1477-1479)AGC>TGC	p.S493C	JAK3_uc010ebh.2_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.S493C|JAK3_uc010xpx.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	493					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S493C(1)		haematopoietic_and_lymphoid_tissue(36)|lung(3)|ovary(3)|stomach(2)|breast(2)	46								2		364				0.318841	63.719868	65.735668	22	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17949164	17949164	8243	19	T	A	A	A	715	55	JAK3	3	3
ZNF536	9745	broad.mit.edu	37	19	31039049	31039049	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039049C>A	uc002nsu.1	+	c.2523C>A	c.(2521-2523)GCC>GCA	p.A841A	ZNF536_uc010edd.1_Silent_p.A841A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	841					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.45614	78.631239	78.727966	26	31	KEEP	---	---	---	---	capture		Silent	SNP	31039049	31039049	18568	19	C	A	A	A	301	24	ZNF536	2	2
ZNF536	9745	broad.mit.edu	37	19	31039059	31039059	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039059C>A	uc002nsu.1	+	c.2533C>A	c.(2533-2535)CTC>ATC	p.L845I	ZNF536_uc010edd.1_Missense_Mutation_p.L845I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L845V(1)		ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.490909	81.420996	81.425006	27	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31039059	31039059	18568	19	C	A	A	A	416	32	ZNF536	2	2
ZNF540	163255	broad.mit.edu	37	19	38103085	38103085	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38103085A>G	uc002ogq.2	+	c.904A>G	c.(904-906)AAA>GAA	p.K302E	ZNF540_uc002ogu.2_Missense_Mutation_p.K302E|ZNF540_uc010efq.2_Missense_Mutation_p.K270E	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	302	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.394737	51.619241	51.987102	15	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38103085	38103085	18569	19	A	G	G	G	169	13	ZNF540	4	4
FCGBP	8857	broad.mit.edu	37	19	40419930	40419930	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40419930C>A	uc002omp.3	-	c.3064G>T	c.(3064-3066)GCT>TCT	p.A1022S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1022	VWFD 2.					extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)											0.526316	89.996205	90.035481	30	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40419930	40419930	6015	19	C	A	A	A	364	28	FCGBP	2	2
IRGC	56269	broad.mit.edu	37	19	44223594	44223594	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44223594T>A	uc002oxh.2	+	c.884T>A	c.(883-885)ATC>AAC	p.I295N		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	295						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)	1		Prostate(69;0.0435)				Colon(189;350 2037 11447 13433 38914)								0.307692	21.393891	22.249064	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44223594	44223594	8141	19	T	A	A	A	650	50	IRGC	3	3
SHANK1	50944	broad.mit.edu	37	19	51175329	51175329	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51175329G>T	uc002psx.1	-	c.2620C>A	c.(2620-2622)CGT>AGT	p.R874S	SHANK1_uc002psw.1_Missense_Mutation_p.R258S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	874					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)										0.625	16.576873	16.686642	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51175329	51175329	14756	19	G	T	T	T	494	38	SHANK1	1	1
KLK7	5650	broad.mit.edu	37	19	51480936	51480936	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51480936C>A	uc002puo.2	-	c.618G>T	c.(616-618)GGG>GGT	p.G206G	KLK7_uc002pup.2_Silent_p.G206G|KLK7_uc010yco.1_Silent_p.G80G|KLK7_uc010eok.2_Silent_p.G134G	NM_139277	NP_644806	P49862	KLK7_HUMAN	stratum corneum chymotryptic enzyme	206	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)						155				0.625	15.676326	15.78589	5	3	KEEP	---	---	---	---	capture		Silent	SNP	51480936	51480936	8723	19	C	A	A	A	275	22	KLK7	2	2
SIGLEC6	946	broad.mit.edu	37	19	52033171	52033171	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52033171G>T	uc002pwy.2	-	c.819C>A	c.(817-819)CTC>CTA	p.L273L	SIGLEC6_uc002pwz.2_Silent_p.L257L|SIGLEC6_uc002pxa.2_Silent_p.L273L|SIGLEC6_uc010ydb.1_Silent_p.L210L|SIGLEC6_uc010ydc.1_Silent_p.L273L|SIGLEC6_uc010eoz.1_Silent_p.L251L|SIGLEC6_uc010epb.1_Silent_p.L226L|SIGLEC6_uc010epa.1_Silent_p.L262L	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	273	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)										0.75	57.059294	58.422378	18	6	KEEP	---	---	---	---	capture		Silent	SNP	52033171	52033171	14807	19	G	T	T	T	418	33	SIGLEC6	2	2
USP29	57663	broad.mit.edu	37	19	57641420	57641420	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57641420C>T	uc002qny.2	+	c.1377C>T	c.(1375-1377)CAC>CAT	p.H459H		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	459					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.323529	60.824929	62.705505	22	46	KEEP	---	---	---	---	capture		Silent	SNP	57641420	57641420	17623	19	C	T	T	T	233	18	USP29	2	2
ZNF586	54807	broad.mit.edu	37	19	58290168	58290168	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58290168G>A	uc002qqd.2	+	c.213G>A	c.(211-213)ACG>ACA	p.T71T	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.R29H|ZNF586_uc010euh.2_Silent_p.T28T|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.2	19.85181	23.617037	9	36	KEEP	---	---	---	---	capture		Silent	SNP	58290168	58290168	18614	19	G	A	A	A	509	40	ZNF586	1	1
ZNF8	7554	broad.mit.edu	37	19	58805982	58805982	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58805982G>T	uc002qry.1	+	c.808G>T	c.(808-810)GCA>TCA	p.A270S	ZNF8_uc002qrz.2_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	270	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)										0.446809	63.966748	64.082807	21	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58805982	58805982	18765	19	G	T	T	T	494	38	ZNF8	1	1
ADAMTS10	81794	broad.mit.edu	37	19	8654779	8654779	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8654779G>T	uc002mkj.1	-	c.1894C>A	c.(1894-1896)CGG>AGG	p.R632R	ADAMTS10_uc002mki.1_Silent_p.T122T|ADAMTS10_uc002mkk.1_Silent_p.R264R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	632	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(1)	3														0.75	21.054611	21.510095	6	2	KEEP	---	---	---	---	capture		Silent	SNP	8654779	8654779	257	19	G	T	T	T	506	39	ADAMTS10	1	1
MUC16	94025	broad.mit.edu	37	19	9083754	9083754	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9083754G>T	uc002mkp.2	-	c.8061C>A	c.(8059-8061)ACC>ACA	p.T2687T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2687	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.784314	134.024723	137.827308	40	11	KEEP	---	---	---	---	capture		Silent	SNP	9083754	9083754	10367	19	G	T	T	T	600	47	MUC16	2	2
COL11A1	1301	broad.mit.edu	37	1	103488444	103488444	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103488444C>G	uc001dum.2	-	c.1135G>C	c.(1135-1137)GGC>CGC	p.G379R	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.G367R|COL11A1_uc001dun.2_Missense_Mutation_p.G328R|COL11A1_uc009weh.2_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	367	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.272727	15.940275	16.964789	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103488444	103488444	3805	1	C	G	G	G	299	23	COL11A1	3	3
LRIG2	9860	broad.mit.edu	37	1	113636068	113636068	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:113636068C>A	uc001edf.1	+	c.397C>A	c.(397-399)CCA>ACA	p.P133T	LRIG2_uc009wgn.1_Missense_Mutation_p.P30T	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	133	LRR 3.|Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)										0.157895	4.812074	6.933809	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113636068	113636068	9318	1	C	A	A	A	286	22	LRIG2	2	2
CSDE1	7812	broad.mit.edu	37	1	115280655	115280655	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115280655C>G	uc001efi.2	-	c.376G>C	c.(376-378)GGG>CGG	p.G126R	CSDE1_uc001efj.2_Non-coding_Transcript|CSDE1_uc001efk.2_Missense_Mutation_p.G80R|CSDE1_uc001efl.2_Missense_Mutation_p.G80R|CSDE1_uc001efm.2_Missense_Mutation_p.G126R|CSDE1_uc009wgv.2_Missense_Mutation_p.G80R|CSDE1_uc001efn.2_Missense_Mutation_p.G80R	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	80	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.466667	68.069784	68.113452	21	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115280655	115280655	4070	1	C	G	G	G	273	21	CSDE1	3	3
SPAG17	200162	broad.mit.edu	37	1	118530785	118530785	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118530785G>T	uc001ehk.2	-	c.5564C>A	c.(5563-5565)ACG>AAG	p.T1855K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1855						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.541667	42.977032	43.013375	13	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118530785	118530785	15482	1	G	T	T	T	520	40	SPAG17	1	1
ADAMTSL4	54507	broad.mit.edu	37	1	150531856	150531856	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150531856T>A	uc009wlw.2	+	c.2926T>A	c.(2926-2928)TGT>AGT	p.C976S	ADAMTSL4_uc001eux.2_Missense_Mutation_p.C953S|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.C914S|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.C116S	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	953	TSP type-1 5.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)									OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.666667	46.55392	47.069673	14	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150531856	150531856	278	1	T	A	A	A	715	55	ADAMTSL4	3	3
MRPL9	65005	broad.mit.edu	37	1	151732528	151732528	+	Nonstop_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151732528A>T	uc001eyv.2	-	c.802T>A	c.(802-804)TAA>AAA	p.*268K	MRPL9_uc009wmz.2_Non-coding_Transcript|OAZ3_uc010pdl.1_5'Flank	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9 precursor	268					translation	mitochondrial ribosome	structural constituent of ribosome			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.590909	43.178944	43.337817	13	9	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	151732528	151732528	10213	1	A	T	T	T	195	15	MRPL9	5	3
HRNR	388697	broad.mit.edu	37	1	152192588	152192588	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152192588C>T	uc001ezt.1	-	c.1517G>A	c.(1516-1518)CGA>CAA	p.R506Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	506	5.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.30303	80.949387	84.357464	30	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152192588	152192588	7653	1	C	T	T	T	403	31	HRNR	1	1
HRNR	388697	broad.mit.edu	37	1	152193090	152193090	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152193090C>T	uc001ezt.1	-	c.1015G>A	c.(1015-1017)GAG>AAG	p.E339K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	339	3.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.457143	47.294845	47.350984	16	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152193090	152193090	7653	1	C	T	T	T	377	29	HRNR	2	2
OR6Y1	391112	broad.mit.edu	37	1	158517140	158517140	+	Silent	SNP	G	T	T	rs114824139	by1000genomes	TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158517140G>T	uc010pil.1	-	c.756C>A	c.(754-756)GTC>GTA	p.V252V		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.323529	92.440577	95.259833	33	69	KEEP	---	---	---	---	capture		Silent	SNP	158517140	158517140	11624	1	G	T	T	T	470	37	OR6Y1	1	1
SPTA1	6708	broad.mit.edu	37	1	158623138	158623138	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158623138C>A	uc001fst.1	-	c.3114G>T	c.(3112-3114)GAG>GAT	p.E1038D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1038					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)													0.428571	53.608524	53.779464	18	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158623138	158623138	15630	1	C	A	A	A	259	20	SPTA1	2	2
SPEN	23013	broad.mit.edu	37	1	16255645	16255645	+	Silent	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16255645A>T	uc001axk.1	+	c.2910A>T	c.(2908-2910)GCA>GCT	p.A970A	SPEN_uc010obp.1_Silent_p.A929A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	970					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)						551				0.60274	142.007435	142.680451	44	29	KEEP	---	---	---	---	capture		Silent	SNP	16255645	16255645	15550	1	A	T	T	T	80	7	SPEN	3	3
MGST3	4259	broad.mit.edu	37	1	165623519	165623519	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165623519A>T	uc001gdg.2	+	c.295A>T	c.(295-297)ATA>TTA	p.I99L	MGST3_uc001gdf.2_Missense_Mutation_p.I85L	NM_004528	NP_004519	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	85	Helical; (Potential).				leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)									0.371795	89.260224	90.384437	29	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165623519	165623519	9952	1	A	T	T	T	208	16	MGST3	3	3
NPL	80896	broad.mit.edu	37	1	182785877	182785878	+	Missense_Mutation	DNP	GG	TC	TC			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182785877_182785878GG>TC	uc009wyb.2	+	c.393_394GG>TC	c.(391-396)GTGGCT>GTTCCT	p.A132P	NPL_uc010pnx.1_Missense_Mutation_p.A113P|NPL_uc010pny.1_Non-coding_Transcript|NPL_uc001gpo.1_Missense_Mutation_p.A113P|NPL_uc009wyc.2_Missense_Mutation_p.A132P|NPL_uc001gpp.3_Missense_Mutation_p.A132P|NPL_uc001gpq.1_Missense_Mutation_p.A132P	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase	132					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			ovary(1)|central_nervous_system(1)	2														0.555556	31.45155	31.499947	10	8	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	182785877	182785878	10990	1	GG	TC	TC	TC	600	47	NPL	2	2
LAMC1	3915	broad.mit.edu	37	1	183086517	183086517	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183086517G>T	uc001gpy.3	+	c.1627G>T	c.(1627-1629)GAG>TAG	p.E543*		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	543	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.257143	43.414395	47.159113	18	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	183086517	183086517	8937	1	G	T	T	T	585	45	LAMC1	5	2
LAMC2	3918	broad.mit.edu	37	1	183204723	183204723	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183204723G>T	uc001gqa.2	+	c.2314G>T	c.(2314-2316)GCC>TCC	p.A772S	LAMC2_uc001gpz.3_Missense_Mutation_p.A772S|LAMC2_uc010poa.1_Missense_Mutation_p.A472S	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	772	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			ovary(1)	1												OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.27027	24.73172	26.494657	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183204723	183204723	8938	1	G	T	T	T	442	34	LAMC2	2	2
NMNAT2	23057	broad.mit.edu	37	1	183387385	183387385	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183387385C>A	uc001gqc.1	-	c.18G>T	c.(16-18)AAG>AAT	p.K6N		NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	nicotinamide mononucleotide adenylyltransferase	6					NAD biosynthetic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0														0.147887	32.975877	49.886209	21	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183387385	183387385	10902	1	C	A	A	A	415	32	NMNAT2	2	2
HMCN1	83872	broad.mit.edu	37	1	186086595	186086595	+	Silent	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186086595A>T	uc001grq.1	+	c.11688A>T	c.(11686-11688)CCA>CCT	p.P3896P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3896					bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.590164	119.404816	119.8372	36	25	KEEP	---	---	---	---	capture		Silent	SNP	186086595	186086595	7511	1	A	T	T	T	67	6	HMCN1	3	3
FAM5C	339479	broad.mit.edu	37	1	190250805	190250805	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190250805G>T	uc001gse.1	-	c.312C>A	c.(310-312)GCC>GCA	p.A104A	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	104						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.423077	65.874458	66.134237	22	30	KEEP	---	---	---	---	capture		Silent	SNP	190250805	190250805	5817	1	G	T	T	T	548	43	FAM5C	2	2
DDX59	83479	broad.mit.edu	37	1	200635398	200635398	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200635398C>A	uc009wzk.2	-	c.471G>T	c.(469-471)GAG>GAT	p.E157D	DDX59_uc010ppl.1_Missense_Mutation_p.E157D	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	157						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.619048	161.113181	162.156938	52	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200635398	200635398	4547	1	C	A	A	A	363	28	DDX59	2	2
LRRN2	10446	broad.mit.edu	37	1	204588041	204588041	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204588041G>T	uc001hbe.1	-	c.1080C>A	c.(1078-1080)AAC>AAA	p.N360K	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.N360K|LRRN2_uc009xbf.1_Missense_Mutation_p.N360K|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	360	Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)											0.285714	52.926682	55.778253	20	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204588041	204588041	9411	1	G	T	T	T	568	44	LRRN2	2	2
PLA2G2F	64600	broad.mit.edu	37	1	20466690	20466690	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20466690G>T	uc009vpp.1	+	c.148G>T	c.(148-150)GTG>TTG	p.V50L		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	7					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)										0.477273	69.675157	69.694728	21	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20466690	20466690	12425	1	G	T	T	T	520	40	PLA2G2F	1	1
PIGR	5284	broad.mit.edu	37	1	207109005	207109005	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207109005C>A	uc001hez.2	-	c.1204G>T	c.(1204-1206)GAG>TAG	p.E402*	PIGR_uc009xbz.2_Nonsense_Mutation_p.E402*	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	402	Ig-like V-type 4.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2												OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4375	21.625112	21.679064	7	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	207109005	207109005	12321	1	C	A	A	A	403	31	PIGR	5	1
KCTD3	51133	broad.mit.edu	37	1	215793797	215793797	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215793797G>T	uc001hks.2	+	c.2285G>T	c.(2284-2286)GGA>GTA	p.G762V	KCTD3_uc001hkt.2_Missense_Mutation_p.G760V|KCTD3_uc010pub.1_Missense_Mutation_p.G660V|KCTD3_uc009xdn.2_Missense_Mutation_p.G486V	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	762						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(2)	2				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)										0.563492	214.630851	215.072283	71	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215793797	215793797	8416	1	G	T	T	T	533	41	KCTD3	2	2
SLC30A10	55532	broad.mit.edu	37	1	220089058	220089058	+	Silent	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220089058C>G	uc001hlw.2	-	c.1191G>C	c.(1189-1191)CTG>CTC	p.L397L	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Silent_p.L152L|SLC30A10_uc001hlx.2_Silent_p.L172L	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	397	Cytoplasmic (Potential).|Poly-Leu.				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		Colon(76;360 1614 43677 51136)								0.192771	40.887508	48.174019	16	67	KEEP	---	---	---	---	capture		Silent	SNP	220089058	220089058	15051	1	C	G	G	G	210	17	SLC30A10	3	3
MOSC2	54996	broad.mit.edu	37	1	220935100	220935100	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220935100G>T	uc001hmq.2	+	c.547G>T	c.(547-549)GAG>TAG	p.E183*	MOSC2_uc001hmr.2_Nonsense_Mutation_p.E183*|MOSC2_uc009xdx.2_Nonsense_Mutation_p.E183*	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	183					oxidation-reduction process	mitochondrial outer membrane	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)										0.375	71.68512	72.562708	24	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	220935100	220935100	10106	1	G	T	T	T	585	45	MOSC2	5	2
NLRP3	114548	broad.mit.edu	37	1	247599354	247599354	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247599354T>C	uc001icr.2	+	c.2581T>C	c.(2581-2583)TAT>CAT	p.Y861H	NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Missense_Mutation_p.Y861H|NLRP3_uc001icw.2_Missense_Mutation_p.Y804H|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.Y839H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	861	LRR 5.		Y -> C (in CINCA).		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)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.179687	57.953167	70.299361	23	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247599354	247599354	10881	1	T	C	C	C	689	53	NLRP3	4	4
OR2M2	391194	broad.mit.edu	37	1	248343503	248343503	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343503G>T	uc010pzf.1	+	c.216G>T	c.(214-216)ATG>ATT	p.M72I		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	72	Helical; Name=2; (Potential).			M -> K (in Ref. 2; AAK95101).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.316109	275.039602	284.959961	104	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248343503	248343503	11416	1	G	T	T	T	598	46	OR2M2	2	2
OR2M4	26245	broad.mit.edu	37	1	248402846	248402846	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248402846A>T	uc010pzh.1	+	c.616A>T	c.(616-618)ATG>TTG	p.M206L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.176471	33.874421	42.25712	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248402846	248402846	11418	1	A	T	T	T	52	4	OR2M4	3	3
OR14C36	127066	broad.mit.edu	37	1	248512712	248512712	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248512712C>A	uc010pzl.1	+	c.636C>A	c.(634-636)ATC>ATA	p.I212I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.361446	82.947759	84.341179	30	53	KEEP	---	---	---	---	capture		Silent	SNP	248512712	248512712	11352	1	C	A	A	A	369	29	OR14C36	2	2
CSMD2	114784	broad.mit.edu	37	1	34071053	34071053	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34071053A>T	uc001bxm.1	-	c.6361T>A	c.(6361-6363)TGC>AGC	p.C2121S	CSMD2_uc001bxn.1_Missense_Mutation_p.C2123S|CSMD2_uc001bxo.1_Missense_Mutation_p.C994S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2123	Sushi 12.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.3	14.240652	14.956505	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34071053	34071053	4086	1	A	T	T	T	78	6	CSMD2	3	3
MAP7D1	55700	broad.mit.edu	37	1	36645329	36645329	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36645329G>C	uc001bzz.2	+	c.2293G>C	c.(2293-2295)GAG>CAG	p.E765Q	MAP7D1_uc001caa.2_Missense_Mutation_p.E732Q|MAP7D1_uc001cab.2_Missense_Mutation_p.E727Q|MAP7D1_uc001cac.2_Missense_Mutation_p.E464Q|MAP7D1_uc001cad.2_Missense_Mutation_p.E301Q	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	765						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)												0.75	10.827778	11.054111	3	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36645329	36645329	9650	1	G	C	C	C	533	41	MAP7D1	3	3
INPP5B	3633	broad.mit.edu	37	1	38353938	38353938	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38353938C>A	uc001ccg.1	-	c.876G>T	c.(874-876)CAG>CAT	p.Q292H	INPP5B_uc009vvk.1_Missense_Mutation_p.Q233H|INPP5B_uc001ccf.1_Missense_Mutation_p.Q128H|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	372					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.445652	122.865033	123.101257	41	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38353938	38353938	8056	1	C	A	A	A	311	24	INPP5B	2	2
HIVEP3	59269	broad.mit.edu	37	1	42046898	42046898	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42046898G>T	uc001cgz.3	-	c.3571C>A	c.(3571-3573)CTT>ATT	p.L1191I	HIVEP3_uc001cha.3_Missense_Mutation_p.L1191I|HIVEP3_uc001cgy.2_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1191					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.270833	33.553833	35.827455	13	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42046898	42046898	7479	1	G	T	T	T	442	34	HIVEP3	2	2
DAB1	1600	broad.mit.edu	37	1	57756695	57756695	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57756695G>C	uc001cys.1	-	c.8C>G	c.(7-9)ACT>AGT	p.T3S	DAB1_uc001cyt.1_Missense_Mutation_p.T3S|DAB1_uc001cyq.1_Missense_Mutation_p.T3S|DAB1_uc001cyr.1_Missense_Mutation_p.T3S|DAB1_uc009vzw.1_Missense_Mutation_p.T3S|DAB1_uc009vzx.1_Missense_Mutation_p.T3S	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	3					cell differentiation|nervous system development					ovary(1)	1										395				0.531646	145.944304	146.012469	42	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57756695	57756695	4383	1	G	C	C	C	468	36	DAB1	3	3
SGIP1	84251	broad.mit.edu	37	1	67091582	67091582	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67091582C>A	uc001dcr.2	+	c.63C>A	c.(61-63)GAC>GAA	p.D21E		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	21					intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.189655	23.988039	29.215093	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67091582	67091582	14697	1	C	A	A	A	220	17	SGIP1	2	2
SLC35D1	23169	broad.mit.edu	37	1	67513052	67513052	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67513052T>A	uc001ddk.2	-	c.534_splice	c.e7-1	p.S178_splice	SLC35D1_uc010oph.1_Splice_Site_SNP_p.S99_splice	NM_015139	NP_055954			solute carrier family 35 (UDP-glucuronic						chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)									0.157895	5.812322	7.932955	3	16	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	67513052	67513052	15078	1	T	A	A	A	715	55	SLC35D1	5	3
AK5	26289	broad.mit.edu	37	1	78001542	78001542	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78001542C>A	uc001dhn.2	+	c.1439C>A	c.(1438-1440)CCA>CAA	p.P480Q	AK5_uc001dho.2_Missense_Mutation_p.P454Q	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	480					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1														0.2	8.888089	10.562865	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78001542	78001542	446	1	C	A	A	A	273	21	AK5	2	2
DNASE2B	58511	broad.mit.edu	37	1	84878197	84878197	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84878197T>A	uc001djt.1	+	c.713T>A	c.(712-714)CTC>CAC	p.L238H	DNASE2B_uc001dju.1_Missense_Mutation_p.L30H|DNASE2B_uc009wch.1_Missense_Mutation_p.L30H	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	238					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		Pancreas(54;788 1175 11852 16034 30034)								0.292683	63.872528	67.025192	24	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84878197	84878197	4848	1	T	A	A	A	702	54	DNASE2B	3	3
MCOLN3	55283	broad.mit.edu	37	1	85488055	85488055	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85488055A>G	uc001dkp.2	-	c.1124T>C	c.(1123-1125)ATA>ACA	p.I375T	MCOLN3_uc001dko.2_5'UTR|MCOLN3_uc001dkq.2_Missense_Mutation_p.I319T	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	375	Helical; (Potential).					integral to membrane	ion channel activity				0				all cancers(265;0.00957)|Epithelial(280;0.0254)										0.454545	34.148878	34.188309	10	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85488055	85488055	9786	1	A	G	G	G	208	16	MCOLN3	4	4
OVOL2	58495	broad.mit.edu	37	20	18005392	18005392	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18005392C>A	uc002wqi.1	-	c.716G>T	c.(715-717)GGC>GTC	p.G239V		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	zinc finger protein 339	239					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus|nucleus	DNA binding|promoter binding|zinc ion binding			central_nervous_system(1)	1														0.789474	49.637018	51.117144	15	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18005392	18005392	11740	20	C	A	A	A	338	26	OVOL2	2	2
PAX1	5075	broad.mit.edu	37	20	21689905	21689905	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:21689905G>A	uc002wsj.2	+	c.1105G>A	c.(1105-1107)GCC>ACC	p.A369T	PAX1_uc010zsl.1_Missense_Mutation_p.A369T|PAX1_uc010zsm.1_Missense_Mutation_p.A345T	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	369					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			kidney(1)	1														0.435897	47.076822	47.21455	17	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21689905	21689905	11898	20	G	A	A	A	494	38	PAX1	1	1
NINL	22981	broad.mit.edu	37	20	25456963	25456963	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25456963C>A	uc002wux.1	-	c.2964G>T	c.(2962-2964)AGG>AGT	p.R988S	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	988					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.75	27.47878	28.159642	9	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25456963	25456963	10821	20	C	A	A	A	285	22	NINL	2	2
MYBL2	4605	broad.mit.edu	37	20	42331376	42331376	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42331376G>T	uc002xlb.1	+	c.1198G>T	c.(1198-1200)GGC>TGC	p.G400C	MYBL2_uc010zwj.1_Missense_Mutation_p.G376C|MYBL2_uc002xla.1_Missense_Mutation_p.G400C	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	400					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G400C(1)		lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)							380				0.44	66.826779	66.966079	22	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42331376	42331376	10405	20	G	T	T	T	559	43	MYBL2	2	2
RAB22A	57403	broad.mit.edu	37	20	56929224	56929224	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56929224G>T	uc002xyz.2	+	c.390G>T	c.(388-390)GAG>GAT	p.E130D		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	RAS-related protein RAB-22A	130					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)											0.4	33.275499	33.542551	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56929224	56929224	13368	20	G	T	T	T	425	33	RAB22A	2	2
TH1L	51497	broad.mit.edu	37	20	57564958	57564958	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57564958A>G	uc002yag.2	+	c.730A>G	c.(730-732)ATG>GTG	p.M244V	TH1L_uc002yaf.1_Non-coding_Transcript|TH1L_uc002yah.2_Missense_Mutation_p.M244V	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	244					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)											0.358974	74.962937	76.334949	28	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57564958	57564958	16367	20	A	G	G	G	104	8	TH1L	4	4
SLC17A9	63910	broad.mit.edu	37	20	61598073	61598073	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61598073G>T	uc002yea.3	+	c.1136G>T	c.(1135-1137)GGG>GTG	p.G379V	SLC17A9_uc002ydz.3_Missense_Mutation_p.G373V|SLC17A9_uc011aap.1_Missense_Mutation_p.G399V	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	379	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1														0.25	9.791621	10.701191	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61598073	61598073	14920	20	G	T	T	T	559	43	SLC17A9	2	2
KRTAP23-1	337963	broad.mit.edu	37	21	31720749	31720749	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31720749C>A	uc002yny.1	-	c.176G>T	c.(175-177)GGA>GTA	p.G59V		NM_181624	NP_853655	A1A580	KR231_HUMAN	keratin associated protein 23-1	59						intermediate filament					0														0.409091	76.210201	76.68721	27	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31720749	31720749	8862	21	C	A	A	A	390	30	KRTAP23-1	2	2
TIAM1	7074	broad.mit.edu	37	21	32554806	32554806	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32554806G>T	uc002yow.1	-	c.2819C>A	c.(2818-2820)CCG>CAG	p.P940Q	TIAM1_uc011adk.1_Missense_Mutation_p.P940Q|TIAM1_uc011adl.1_Missense_Mutation_p.P880Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	940					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.307692	11.395971	11.824072	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32554806	32554806	16418	21	G	T	T	T	507	39	TIAM1	1	1
IFNGR2	3460	broad.mit.edu	37	21	34793812	34793812	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34793812G>T	uc002yrq.3	+	c.289G>T	c.(289-291)GAC>TAC	p.D97Y	IFNGR2_uc002yrp.3_Missense_Mutation_p.D78Y|IFNGR2_uc010gma.2_5'UTR|IFNGR2_uc002yrr.3_5'UTR	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	78	Extracellular (Potential).|Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)									0.302326	36.26458	37.761406	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34793812	34793812	7851	21	G	T	T	T	481	37	IFNGR2	1	1
TRAPPC10	7109	broad.mit.edu	37	21	45509756	45509756	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45509756G>A	uc002zea.2	+	c.2812G>A	c.(2812-2814)GCA>ACA	p.A938T	TRAPPC10_uc010gpo.2_Missense_Mutation_p.A649T|TRAPPC10_uc011afa.1_Missense_Mutation_p.A316T|TRAPPC10_uc011afb.1_Missense_Mutation_p.A43T	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	938					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2														0.142857	4.510794	7.092623	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45509756	45509756	17001	21	G	A	A	A	494	38	TRAPPC10	1	1
CECR2	27443	broad.mit.edu	37	22	18021558	18021558	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18021558C>A	uc010gqw.1	+	c.1849C>A	c.(1849-1851)CTG>ATG	p.L617M	CECR2_uc010gqv.1_Missense_Mutation_p.L476M|CECR2_uc002zml.2_Missense_Mutation_p.L476M	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	659					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)		Lung(27;0.146)										0.192308	20.320966	24.918258	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18021558	18021558	3339	22	C	A	A	A	415	32	CECR2	2	2
CABIN1	23523	broad.mit.edu	37	22	24509555	24509555	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24509555C>T	uc002zzi.1	+	c.4140C>T	c.(4138-4140)GCC>GCT	p.A1380A	CABIN1_uc002zzj.1_Silent_p.A1301A|CABIN1_uc002zzl.1_Silent_p.A1380A	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1380					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.245283	33.750343	36.882209	13	40	KEEP	---	---	---	---	capture		Silent	SNP	24509555	24509555	2644	22	C	T	T	T	288	23	CABIN1	1	1
DPP10	57628	broad.mit.edu	37	2	116572433	116572433	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:116572433A>T	uc002tle.2	+	c.1777A>T	c.(1777-1779)ATT>TTT	p.I593F	DPP10_uc002tla.1_Missense_Mutation_p.I589F|DPP10_uc002tlb.1_Missense_Mutation_p.I539F|DPP10_uc002tlc.1_Missense_Mutation_p.I585F|DPP10_uc002tlf.1_Missense_Mutation_p.I582F	NM_001004360	NP_001004360	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform short	589	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.6875	157.224797	159.228329	44	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116572433	116572433	4911	2	A	T	T	T	104	8	DPP10	3	3
POLR2D	5433	broad.mit.edu	37	2	128605739	128605739	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128605739T>C	uc002tpj.2	-	c.371A>G	c.(370-372)GAT>GGT	p.D124G	POLR2D_uc002tpk.2_Missense_Mutation_p.D92G	NM_004805	NP_004796	O15514	RPB4_HUMAN	DNA directed RNA polymerase II polypeptide D	124					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)										0.177778	18.873813	23.272095	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128605739	128605739	12645	2	T	C	C	C	650	50	POLR2D	4	4
LRP1B	53353	broad.mit.edu	37	2	141114028	141114028	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141114028A>T	uc002tvj.1	-	c.11413T>A	c.(11413-11415)TGT>AGT	p.C3805S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3805	Extracellular (Potential).|EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.346939	51.060242	52.07363	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141114028	141114028	9328	2	A	T	T	T	91	7	LRP1B	3	3
ZEB2	9839	broad.mit.edu	37	2	145157219	145157219	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145157219C>A	uc002tvu.2	-	c.1535G>T	c.(1534-1536)GGT>GTT	p.G512V	ZEB2_uc002tvv.2_Missense_Mutation_p.G506V|ZEB2_uc010zbm.1_Missense_Mutation_p.G483V|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.G541V	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	512					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.490909	85.724278	85.728202	27	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145157219	145157219	18212	2	C	A	A	A	234	18	ZEB2	2	2
FIGN	55137	broad.mit.edu	37	2	164466341	164466341	+	Silent	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:164466341T>C	uc002uck.1	-	c.2001A>G	c.(1999-2001)TCA>TCG	p.S667S		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	667						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)	3														0.54386	96.495955	96.588659	31	26	KEEP	---	---	---	---	capture		Silent	SNP	164466341	164466341	6129	2	T	C	C	C	756	59	FIGN	4	4
SCN3A	6328	broad.mit.edu	37	2	165947591	165947591	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165947591T>A	uc002ucx.2	-	c.5072A>T	c.(5071-5073)AAC>ATC	p.N1691I	SCN3A_uc010zcy.1_Missense_Mutation_p.N174I|SCN3A_uc002ucy.2_Missense_Mutation_p.N1642I|SCN3A_uc002ucz.2_Missense_Mutation_p.N1642I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1691						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.448718	208.092444	208.454181	70	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165947591	165947591	14400	2	T	A	A	A	780	60	SCN3A	3	3
XIRP2	129446	broad.mit.edu	37	2	167760302	167760302	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167760302C>T	uc002udx.2	+	c.310C>T	c.(310-312)CGG>TGG	p.R104W	XIRP2_uc010fpn.2_Missense_Mutation_p.R104W|XIRP2_uc010fpo.2_Missense_Mutation_p.R104W|XIRP2_uc010fpp.2_Missense_Mutation_p.R104W	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.62069	117.610917	118.351833	36	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167760302	167760302	18011	2	C	T	T	T	399	31	XIRP2	1	1
LASS6	253782	broad.mit.edu	37	2	169574413	169574413	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169574413A>T	uc002uec.1	+	c.770A>T	c.(769-771)CAG>CTG	p.Q257L	LASS6_uc002ueb.1_Missense_Mutation_p.Q257L	NM_203463	NP_982288	Q6ZMG9	LASS6_HUMAN	longevity assurance homolog 6	257	Cytoplasmic (Potential).|TLC.				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0														0.419355	42.17058	42.346373	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169574413	169574413	8966	2	A	T	T	T	91	7	LASS6	3	3
CDCA7	83879	broad.mit.edu	37	2	174230312	174230312	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:174230312C>T	uc002uic.1	+	c.1027C>T	c.(1027-1029)CGT>TGT	p.R343C	CDCA7_uc002uid.1_Missense_Mutation_p.R264C|CDCA7_uc010zej.1_Missense_Mutation_p.R299C|CDCA7_uc010zek.1_Missense_Mutation_p.R222C	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 1	264	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)											0.272727	15.744792	16.766393	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174230312	174230312	3219	2	C	T	T	T	299	23	CDCA7	1	1
PDE11A	50940	broad.mit.edu	37	2	178762914	178762914	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178762914C>A	uc002ulq.2	-	c.1173G>T	c.(1171-1173)GAG>GAT	p.E391D	PDE11A_uc002ulr.2_Missense_Mutation_p.E141D|PDE11A_uc002uls.1_Missense_Mutation_p.E33D|PDE11A_uc002ult.1_Missense_Mutation_p.E141D|PDE11A_uc002ulu.1_Missense_Mutation_p.E33D	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	391					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)											0.676923	143.118737	144.923535	44	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178762914	178762914	12052	2	C	A	A	A	311	24	PDE11A	2	2
TTN	7273	broad.mit.edu	37	2	179475105	179475105	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179475105G>T	uc010zfg.1	-	c.43444C>A	c.(43444-43446)CCA>ACA	p.P14482T	TTN_uc010zfh.1_Missense_Mutation_p.P8177T|TTN_uc010zfi.1_Missense_Mutation_p.P8110T|TTN_uc010zfj.1_Missense_Mutation_p.P7985T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	103										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.3	50.461912	52.587971	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179475105	179475105	17290	2	G	T	T	T	572	44	TTN	2	2
PMS1	5378	broad.mit.edu	37	2	190742055	190742055	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190742055C>G	uc002urh.3	+	c.2692C>G	c.(2692-2694)CAA>GAA	p.Q898E	PMS1_uc002urk.3_Missense_Mutation_p.Q859E|PMS1_uc002uri.3_Missense_Mutation_p.Q736E|PMS1_uc010zgc.1_Missense_Mutation_p.Q722E|PMS1_uc010zgd.1_Missense_Mutation_p.Q722E|PMS1_uc002urj.2_Non-coding_Transcript|PMS1_uc010frz.2_Missense_Mutation_p.Q214E|PMS1_uc002url.2_Missense_Mutation_p.Q521E|PMS1_uc002urm.2_Non-coding_Transcript	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	898					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)							236				0.226415	31.771677	35.41412	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190742055	190742055	12568	2	C	G	G	G	273	21	PMS1	3	3
APOB	338	broad.mit.edu	37	2	21225226	21225226	+	Silent	SNP	A	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21225226A>C	uc002red.2	-	c.13068T>G	c.(13066-13068)CTT>CTG	p.L4356L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4356					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.148148	8.481967	11.690319	4	23	KEEP	---	---	---	---	capture		Silent	SNP	21225226	21225226	796	2	A	C	C	C	106	9	APOB	4	4
APOB	338	broad.mit.edu	37	2	21234284	21234284	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21234284A>T	uc002red.2	-	c.5456T>A	c.(5455-5457)CTG>CAG	p.L1819Q		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1819					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.5	201.018465	201.018465	63	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21234284	21234284	796	2	A	T	T	T	91	7	APOB	3	3
SPAG16	79582	broad.mit.edu	37	2	214878756	214878756	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:214878756C>A	uc002veq.2	+	c.1482C>A	c.(1480-1482)CTC>CTA	p.L494L	SPAG16_uc010fuz.1_Silent_p.L345L|SPAG16_uc002ver.2_Silent_p.L440L|SPAG16_uc010zjk.1_Silent_p.L400L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	494	WD 4.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)	1		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.5	100.369954	100.369954	33	33	KEEP	---	---	---	---	capture		Silent	SNP	214878756	214878756	15481	2	C	A	A	A	366	29	SPAG16	2	2
VWC2L	402117	broad.mit.edu	37	2	215301440	215301440	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215301440C>A	uc002vet.2	+	c.478C>A	c.(478-480)CCA>ACA	p.P160T	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	160	VWFC 2.					extracellular region					0														0.240741	31.947126	35.259738	13	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215301440	215301440	17815	2	C	A	A	A	286	22	VWC2L	2	2
PLCD4	84812	broad.mit.edu	37	2	219498867	219498867	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219498867G>A	uc002vij.1	+	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	PLCD4_uc010zkk.1_3'UTR	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	549	PI-PLC Y-box.	Substrate (By similarity).			intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)										0.571429	25.802789	25.865406	8	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219498867	219498867	12459	2	G	A	A	A	520	40	PLCD4	1	1
ANO7	50636	broad.mit.edu	37	2	242135132	242135132	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242135132G>T	uc002wax.2	+	c.343G>T	c.(343-345)GTT>TTT	p.V115F	ANO7_uc002waw.2_Missense_Mutation_p.V114F	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	115	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3														0.294118	14.66921	15.313539	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242135132	242135132	710	2	G	T	T	T	520	40	ANO7	1	1
GTF3C2	2976	broad.mit.edu	37	2	27565996	27565996	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27565996G>T	uc002rju.1	-	c.299C>A	c.(298-300)TCA>TAA	p.S100*	GTF3C2_uc002rjv.1_Nonsense_Mutation_p.S89*|GTF3C2_uc002rjw.1_Nonsense_Mutation_p.S89*|GTF3C2_uc010eyz.1_Nonsense_Mutation_p.S89*	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	89					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.477273	62.770648	62.790445	21	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27565996	27565996	7153	2	G	T	T	T	585	45	GTF3C2	5	2
FAM179A	165186	broad.mit.edu	37	2	29222072	29222072	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29222072C>T	uc010ezl.2	+	c.165C>T	c.(163-165)GCC>GCT	p.A55A	FAM179A_uc010ymm.1_Silent_p.A55A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	55							binding			ovary(3)|skin(1)	4														0.210526	38.640325	44.472283	16	60	KEEP	---	---	---	---	capture		Silent	SNP	29222072	29222072	5711	2	C	T	T	T	275	22	FAM179A	2	2
BIRC6	57448	broad.mit.edu	37	2	32730165	32730166	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32730165_32730166CC>TT	uc010ezu.2	+	c.9593_9594CC>TT	c.(9592-9594)TCC>TTT	p.S3198F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3198					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.2	12.060891	14.15323	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	32730165	32730166	1463	2	CC	TT	TT	TT	390	30	BIRC6	2	2
SLC8A1	6546	broad.mit.edu	37	2	40656261	40656261	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40656261G>T	uc002rrx.2	-	c.1160C>A	c.(1159-1161)GCA>GAA	p.A387E	SLC8A1_uc002rry.2_Missense_Mutation_p.A387E|SLC8A1_uc002rrz.2_Missense_Mutation_p.A387E|SLC8A1_uc002rsa.2_Missense_Mutation_p.A387E|SLC8A1_uc002rsd.3_Missense_Mutation_p.A387E|SLC8A1_uc002rsb.1_Missense_Mutation_p.A387E|SLC8A1_uc010fan.1_Missense_Mutation_p.A387E|SLC8A1_uc002rsc.1_Missense_Mutation_p.A387E	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	387	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.355556	45.989712	46.81589	16	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40656261	40656261	15203	2	G	T	T	T	598	46	SLC8A1	2	2
CD207	50489	broad.mit.edu	37	2	71058894	71058894	+	Silent	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71058894T>A	uc002shg.2	-	c.774A>T	c.(772-774)GCA>GCT	p.A258A		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	258	C-type lectin.|Extracellular (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2														0.275862	67.464285	71.39797	24	63	KEEP	---	---	---	---	capture		Silent	SNP	71058894	71058894	3110	2	T	A	A	A	704	55	CD207	3	3
CD207	50489	broad.mit.edu	37	2	71062642	71062642	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71062642A>T	uc002shg.2	-	c.170T>A	c.(169-171)GTC>GAC	p.V57D		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 antigen, langerin	57	Helical; Signal-anchor for type II membrane protein; (Potential).				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			ovary(1)|lung(1)	2														0.416667	26.743182	26.889173	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71062642	71062642	3110	2	A	T	T	T	130	10	CD207	3	3
REG3G	130120	broad.mit.edu	37	2	79253249	79253249	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79253249G>A	uc002snw.2	+	c.30G>A	c.(28-30)GTG>GTA	p.V10V	REG3G_uc002snx.2_Silent_p.V10V|REG3G_uc010ffu.2_Silent_p.V10V	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	10					acute-phase response	extracellular region	sugar binding				0														0.473684	52.9474	52.970232	18	20	KEEP	---	---	---	---	capture		Silent	SNP	79253249	79253249	13682	2	G	A	A	A	613	48	REG3G	2	2
INPP4A	3631	broad.mit.edu	37	2	99180085	99180085	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99180085G>T	uc002syy.2	+	c.2028G>T	c.(2026-2028)GTG>GTT	p.V676V	INPP4A_uc010yvj.1_Silent_p.V637V|INPP4A_uc010yvk.1_Silent_p.V637V|INPP4A_uc002syx.2_Silent_p.V671V|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	676					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1														0.75	18.752557	19.20762	6	2	KEEP	---	---	---	---	capture		Silent	SNP	99180085	99180085	8053	2	G	T	T	T	600	47	INPP4A	2	2
LSAMP	4045	broad.mit.edu	37	3	115805312	115805312	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:115805312G>T	uc011bis.1	-	c.247C>A	c.(247-249)CGG>AGG	p.R83R	LSAMP_uc003ebt.2_Silent_p.R83R	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	83	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)										0.508197	100.63193	100.635705	31	30	KEEP	---	---	---	---	capture		Silent	SNP	115805312	115805312	9424	3	G	T	T	T	519	40	LSAMP	1	1
TMEM39A	55254	broad.mit.edu	37	3	119180915	119180915	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119180915C>A	uc003eck.1	-	c.7G>T	c.(7-9)GGT>TGT	p.G3C	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	3						integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)										0.5625	29.97699	30.031505	9	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119180915	119180915	16700	3	C	A	A	A	299	23	TMEM39A	1	1
ARGFX	503582	broad.mit.edu	37	3	121305147	121305147	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121305147G>T	uc003eef.2	+	c.648G>T	c.(646-648)TCG>TCT	p.S216S		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	216					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.152)										0.504587	171.352006	171.354541	55	54	KEEP	---	---	---	---	capture		Silent	SNP	121305147	121305147	870	3	G	T	T	T	496	39	ARGFX	1	1
DIRC2	84925	broad.mit.edu	37	3	122598179	122598179	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122598179G>T	uc003efw.3	+	c.1391G>T	c.(1390-1392)AGG>ATG	p.R464M	DIRC2_uc010hrl.2_Non-coding_Transcript|DIRC2_uc010hrm.2_Missense_Mutation_p.R302M	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	464					transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)										0.373288	315.175598	319.302006	109	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122598179	122598179	4713	3	G	T	T	T	455	35	DIRC2	2	2
KALRN	8997	broad.mit.edu	37	3	124351421	124351421	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124351421G>T	uc003ehg.2	+	c.5331G>T	c.(5329-5331)CGG>CGT	p.R1777R	KALRN_uc003ehi.2_Silent_p.R150R|KALRN_uc003ehk.2_Silent_p.R80R|KALRN_uc003ehj.2_Silent_p.R80R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1777					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.452381	52.477147	52.550409	19	23	KEEP	---	---	---	---	capture		Silent	SNP	124351421	124351421	8279	3	G	T	T	T	535	42	KALRN	2	2
UROC1	131669	broad.mit.edu	37	3	126226902	126226902	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126226902C>A	uc010hsi.1	-	c.448G>T	c.(448-450)GAG>TAG	p.E150*	UROC1_uc003eiz.1_Nonsense_Mutation_p.E150*	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	150					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)										0.423729	73.163171	73.46308	25	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	126226902	126226902	17590	3	C	A	A	A	416	32	UROC1	5	2
IL20RB	53833	broad.mit.edu	37	3	136729000	136729000	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:136729000G>T	uc003eri.1	+	c.871G>T	c.(871-873)GAG>TAG	p.E291*	IL20RB_uc003erj.1_Non-coding_Transcript|IL20RB_uc010hud.1_Nonsense_Mutation_p.E149*	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	291	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)	1														0.418182	126.019249	126.664302	46	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	136729000	136729000	7970	3	G	T	T	T	533	41	IL20RB	5	2
SOX14	8403	broad.mit.edu	37	3	137483968	137483968	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137483968C>T	uc003erm.1	+	c.342C>T	c.(340-342)GCC>GCT	p.A114A		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	114					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|transcription repressor activity				0														0.533333	50.100346	50.129284	16	14	KEEP	---	---	---	---	capture		Silent	SNP	137483968	137483968	15445	3	C	T	T	T	301	24	SOX14	2	2
FOXL2	668	broad.mit.edu	37	3	138664519	138664519	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138664519C>A	uc003esw.2	-	c.1046G>T	c.(1045-1047)CGG>CTG	p.R349L	C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	349					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of gene-specific transcription from RNA polymerase II promoter|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			ovary(226)|large_intestine(1)|skin(1)	228														0.5	22.024701	22.024701	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138664519	138664519	6263	3	C	A	A	A	299	23	FOXL2	1	1
CPA3	1359	broad.mit.edu	37	3	148596236	148596236	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148596236T>G	uc003ewm.2	+	c.278T>G	c.(277-279)ATT>AGT	p.I93S		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	93					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)											0.513514	135.854062	135.865873	38	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148596236	148596236	3929	3	T	G	G	G	676	52	CPA3	4	4
SI	6476	broad.mit.edu	37	3	164700808	164700808	+	Silent	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164700808T>A	uc003fei.2	-	c.5229A>T	c.(5227-5229)GTA>GTT	p.V1743V		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1743	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.333333	29.741115	30.478576	10	20	KEEP	---	---	---	---	capture		Silent	SNP	164700808	164700808	14792	3	T	A	A	A	730	57	SI	3	3
USP13	8975	broad.mit.edu	37	3	179481954	179481954	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179481954A>T	uc003fkh.2	+	c.2257A>T	c.(2257-2259)ACG>TCG	p.T753S		NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	753	UBA 2.				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)											0.377049	65.109187	65.918685	23	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179481954	179481954	17606	3	A	T	T	T	26	2	USP13	3	3
EOMES	8320	broad.mit.edu	37	3	27759021	27759021	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:27759021C>A	uc003cdy.3	-	c.1658G>T	c.(1657-1659)AGT>ATT	p.S553I	EOMES_uc003cdx.2_Missense_Mutation_p.S534I|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.S258I	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	534					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(3)|breast(1)	4														0.382716	91.302785	92.280768	31	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27759021	27759021	5340	3	C	A	A	A	260	20	EOMES	2	2
IL5RA	3568	broad.mit.edu	37	3	3139640	3139640	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3139640C>T	uc011ask.1	-	c.623G>A	c.(622-624)CGT>CAT	p.R208H	IL5RA_uc010hbq.2_Missense_Mutation_p.R208H|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.R208H|IL5RA_uc011asl.1_Missense_Mutation_p.R208H|IL5RA_uc011asm.1_Missense_Mutation_p.R208H|IL5RA_uc010hbt.2_Missense_Mutation_p.R208H|IL5RA_uc011asn.1_Missense_Mutation_p.R208H|IL5RA_uc010hbu.2_Missense_Mutation_p.R208H	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	208	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GBM(169;430 2801 24955 28528)								0.512821	58.393126	58.398522	20	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3139640	3139640	8001	3	C	T	T	T	247	19	IL5RA	1	1
DLEC1	9940	broad.mit.edu	37	3	38080913	38080913	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38080913T>A	uc003chp.1	+	c.197T>A	c.(196-198)CTC>CAC	p.L66H	DLEC1_uc003cho.1_Missense_Mutation_p.L66H|DLEC1_uc010hgv.1_Missense_Mutation_p.L66H	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	66					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|breast(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)										0.289474	29.608574	31.118868	11	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38080913	38080913	4732	3	T	A	A	A	702	54	DLEC1	3	3
SCN11A	11280	broad.mit.edu	37	3	38926863	38926863	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38926863A>G	uc011ays.1	-	c.2980T>C	c.(2980-2982)TGT>CGT	p.C994R	SCN11A_uc010hhn.1_Missense_Mutation_p.C72R	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	994					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)									0.445652	128.564919	128.801288	41	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38926863	38926863	14395	3	A	G	G	G	104	8	SCN11A	4	4
ZNF620	253639	broad.mit.edu	37	3	40557709	40557709	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:40557709G>A	uc003ckk.2	+	c.624G>A	c.(622-624)ATG>ATA	p.M208I	ZNF620_uc003ckl.2_Missense_Mutation_p.M94I	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	208	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)										0.322034	51.400164	53.061926	19	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40557709	40557709	18639	3	G	A	A	A	611	47	ZNF620	2	2
ZNF620	253639	broad.mit.edu	37	3	40558265	40558265	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:40558265T>C	uc003ckk.2	+	c.1180T>C	c.(1180-1182)TGT>CGT	p.C394R	ZNF620_uc003ckl.2_Missense_Mutation_p.C280R	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	394	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)										0.455882	91.615684	91.73096	31	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40558265	40558265	18639	3	T	C	C	C	767	59	ZNF620	4	4
LAMB2	3913	broad.mit.edu	37	3	49162900	49162900	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49162900C>A	uc003cwe.2	-	c.2506G>T	c.(2506-2508)GAG>TAG	p.E836*	LAMB2_uc003cwf.1_Nonsense_Mutation_p.E836*	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	836	Laminin EGF-like 7.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.571429	13.401853	13.433272	4	3	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49162900	49162900	8934	3	C	A	A	A	403	31	LAMB2	5	1
NPRL2	10641	broad.mit.edu	37	3	50387112	50387112	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50387112T>G	uc003daj.1	-	c.323A>C	c.(322-324)TAT>TCT	p.Y108S	NPRL2_uc003dai.1_5'UTR|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	108	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity	p.Y108S(1)		lung(1)	1										248				0.6	32.97885	33.110322	9	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50387112	50387112	11002	3	T	G	G	G	637	49	NPRL2	4	4
RFT1	91869	broad.mit.edu	37	3	53156497	53156498	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:53156497_53156498GG>AA	uc003dgj.2	-	c.348_349CC>TT	c.(346-351)GTCCCT>GTTTCT	p.P117S	RFT1_uc003dgk.2_Missense_Mutation_p.P78S	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	117					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)										0.321429	50.134079	51.718133	18	38	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	53156497	53156498	13729	3	GG	AA	AA	AA	559	43	RFT1	2	2
APPL1	26060	broad.mit.edu	37	3	57294181	57294181	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:57294181G>T	uc003dio.2	+	c.1695G>T	c.(1693-1695)ACG>ACT	p.T565T	APPL1_uc010hnb.2_Silent_p.T565T|APPL1_uc011bey.1_Silent_p.T548T	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	565	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)										0.21875	18.610928	20.940706	7	25	KEEP	---	---	---	---	capture		Silent	SNP	57294181	57294181	828	3	G	T	T	T	496	39	APPL1	1	1
GRM7	2917	broad.mit.edu	37	3	6903353	6903353	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:6903353C>A	uc003bql.2	+	c.278C>A	c.(277-279)CCC>CAC	p.P93H	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P93H|GRM7_uc003bqm.2_Missense_Mutation_p.P93H	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	93	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.444444	35.195649	35.26833	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6903353	6903353	7081	3	C	A	A	A	286	22	GRM7	2	2
ROBO1	6091	broad.mit.edu	37	3	78763601	78763601	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:78763601C>G	uc003dqe.2	-	c.991G>C	c.(991-993)GTT>CTT	p.V331L	ROBO1_uc003dqb.2_Missense_Mutation_p.V292L|ROBO1_uc003dqc.2_Missense_Mutation_p.V292L|ROBO1_uc003dqd.2_Missense_Mutation_p.V292L|ROBO1_uc003dqf.1_Missense_Mutation_p.V7L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	331	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.V308L(1)		large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)						693				0.292308	59.30242	61.810951	19	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78763601	78763601	13992	3	C	G	G	G	221	17	ROBO1	3	3
CHMP2B	25978	broad.mit.edu	37	3	87295012	87295012	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:87295012T>A	uc003dqp.3	+	c.275T>A	c.(274-276)ATG>AAG	p.M92K	CHMP2B_uc011bgn.1_Missense_Mutation_p.M51K	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	chromatin modifying protein 2B	92					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			ovary(1)	1	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)										0.454545	83.170932	83.269661	25	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87295012	87295012	3489	3	T	A	A	A	663	51	CHMP2B	3	3
ENPEP	2028	broad.mit.edu	37	4	111470770	111470770	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:111470770G>T	uc003iab.3	+	c.2312G>T	c.(2311-2313)TGG>TTG	p.W771L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	771	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)									0.418919	95.935984	96.354041	31	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111470770	111470770	5321	4	G	T	T	T	611	47	ENPEP	2	2
PHF17	79960	broad.mit.edu	37	4	129783000	129783000	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:129783000G>A	uc003igk.2	+	c.1123G>A	c.(1123-1125)GAG>AAG	p.E375K	PHF17_uc003igj.2_Missense_Mutation_p.E375K|PHF17_uc003igl.2_Missense_Mutation_p.E363K|PHF17_uc011cgy.1_Missense_Mutation_p.E375K|PHF17_uc003igm.2_Missense_Mutation_p.E375K	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	375					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														0.399015	243.340318	245.148809	81	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129783000	129783000	12251	4	G	A	A	A	481	37	PHF17	1	1
PRMT10	90826	broad.mit.edu	37	4	148601524	148601524	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:148601524C>A	uc003ilc.2	-	c.288G>T	c.(286-288)CTG>CTT	p.L96L	PRMT10_uc003ild.2_Intron	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	96	TPR 2.					cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2														0.392857	66.844739	67.405151	22	34	KEEP	---	---	---	---	capture		Silent	SNP	148601524	148601524	12979	4	C	A	A	A	210	17	PRMT10	2	2
NPY2R	4887	broad.mit.edu	37	4	156135259	156135259	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156135259C>A	uc003ioq.2	+	c.168C>A	c.(166-168)GCC>GCA	p.A56A	NPY2R_uc003ior.2_Silent_p.A56A	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	56	Helical; Name=1; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)												0.469136	118.544045	118.61095	38	43	KEEP	---	---	---	---	capture		Silent	SNP	156135259	156135259	11014	4	C	A	A	A	301	24	NPY2R	2	2
SPOCK3	50859	broad.mit.edu	37	4	167810365	167810365	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:167810365C>T	uc011cjq.1	-	c.541G>A	c.(541-543)GGA>AGA	p.G181R	SPOCK3_uc011cjp.1_Missense_Mutation_p.G169R|SPOCK3_uc011cjr.1_Missense_Mutation_p.G52R|SPOCK3_uc003iri.1_Missense_Mutation_p.G172R|SPOCK3_uc003irj.1_Missense_Mutation_p.G169R|SPOCK3_uc011cjs.1_Missense_Mutation_p.G121R|SPOCK3_uc011cjt.1_Missense_Mutation_p.G80R|SPOCK3_uc011cju.1_Missense_Mutation_p.G65R|SPOCK3_uc011cjv.1_Missense_Mutation_p.G74R|SPOCK3_uc003irk.3_Missense_Mutation_p.G169R|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001040159	NP_001035249	Q9BQ16	TICN3_HUMAN	testican 3 isoform 1	172	Kazal-like.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)										0.405063	102.783741	103.406498	32	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167810365	167810365	15594	4	C	T	T	T	312	24	SPOCK3	2	2
SLIT2	9353	broad.mit.edu	37	4	20543212	20543212	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20543212G>T	uc003gpr.1	+	c.2113G>T	c.(2113-2115)GTG>TTG	p.V705L	SLIT2_uc003gps.1_Missense_Mutation_p.V697L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	705	LRRCT 3.				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														0.439024	55.045711	55.178222	18	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20543212	20543212	15238	4	G	T	T	T	624	48	SLIT2	2	2
FRYL	285527	broad.mit.edu	37	4	48622683	48622683	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48622683C>T	uc003gyh.1	-	c.287G>A	c.(286-288)AGG>AAG	p.R96K	FRYL_uc003gyk.2_Missense_Mutation_p.R96K|FRYL_uc003gyl.1_Missense_Mutation_p.R147K|FRYL_uc003gym.1_Missense_Mutation_p.R96K	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.422018	149.530936	150.109598	46	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48622683	48622683	6314	4	C	T	T	T	312	24	FRYL	2	2
LRRC66	339977	broad.mit.edu	37	4	52861973	52861973	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52861973C>A	uc003gzi.2	-	c.1215G>T	c.(1213-1215)TGG>TGT	p.W405C		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	405						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.478873	99.948679	99.975884	34	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52861973	52861973	9393	4	C	A	A	A	338	26	LRRC66	2	2
EPHA5	2044	broad.mit.edu	37	4	66189926	66189926	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66189926C>T	uc011cah.1	-	c.3023G>A	c.(3022-3024)CGG>CAG	p.R1008Q	EPHA5_uc003hcx.2_Missense_Mutation_p.R939Q|EPHA5_uc003hcy.2_Missense_Mutation_p.R1007Q|EPHA5_uc003hcz.2_Missense_Mutation_p.R985Q|EPHA5_uc011cai.1_Missense_Mutation_p.R986Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1007	Cytoplasmic (Potential).|SAM.				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R1007Q(1)		lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.5	73.724665	73.724665	23	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66189926	66189926	5363	4	C	T	T	T	299	23	EPHA5	1	1
PTPN13	5783	broad.mit.edu	37	4	87687592	87687592	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87687592C>T	uc003hpy.2	+	c.4266C>T	c.(4264-4266)CGC>CGT	p.R1422R	PTPN13_uc003hpz.2_Silent_p.R1417R|PTPN13_uc003hqa.2_Silent_p.R1398R|PTPN13_uc003hqb.2_Silent_p.R1226R|PTPN13_uc003hqc.1_5'Flank	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1417	PDZ 2.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.340426	42.466411	43.533378	16	31	KEEP	---	---	---	---	capture		Silent	SNP	87687592	87687592	13237	4	C	T	T	T	340	27	PTPN13	1	1
AFF1	4299	broad.mit.edu	37	4	88029317	88029317	+	Silent	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88029317A>T	uc011ccz.1	+	c.1383A>T	c.(1381-1383)CCA>CCT	p.P461P	AFF1_uc003hqj.3_Silent_p.P454P|AFF1_uc003hqk.3_Silent_p.P454P|AFF1_uc011cda.1_Silent_p.P92P	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	454						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)						332				0.403226	158.420785	159.437171	50	74	KEEP	---	---	---	---	capture		Silent	SNP	88029317	88029317	357	4	A	T	T	T	67	6	AFF1	3	3
CTNND2	1501	broad.mit.edu	37	5	11022947	11022947	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11022947G>C	uc003jfa.1	-	c.2933C>G	c.(2932-2934)GCC>GGC	p.A978G	CTNND2_uc010itt.2_Missense_Mutation_p.A887G|CTNND2_uc011cmy.1_Missense_Mutation_p.A641G|CTNND2_uc011cmz.1_Missense_Mutation_p.A545G|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.A570G	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	978	ARM 9.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.208092	92.150848	105.697397	36	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11022947	11022947	4179	5	G	C	C	C	546	42	CTNND2	3	3
CTNND2	1501	broad.mit.edu	37	5	11346664	11346664	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11346664G>A	uc003jfa.1	-	c.1448C>T	c.(1447-1449)GCG>GTG	p.A483V	CTNND2_uc010itt.2_Missense_Mutation_p.A392V|CTNND2_uc011cmy.1_Missense_Mutation_p.A146V|CTNND2_uc011cmz.1_Missense_Mutation_p.A50V|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.A50V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	483					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.186047	14.945057	18.865507	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11346664	11346664	4179	5	G	A	A	A	494	38	CTNND2	1	1
KCNN2	3781	broad.mit.edu	37	5	113831781	113831781	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:113831781G>T	uc003kqo.2	+	c.1642G>T	c.(1642-1644)GAC>TAC	p.D548Y	KCNN2_uc003kqp.2_Missense_Mutation_p.D200Y|KCNN2_uc010jcg.2_Non-coding_Transcript	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	548						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)										0.368	135.924428	137.836024	46	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113831781	113831781	8384	5	G	T	T	T	481	37	KCNN2	1	1
FBN2	2201	broad.mit.edu	37	5	127645716	127645716	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127645716G>A	uc003kuu.2	-	c.5159C>T	c.(5158-5160)CCA>CTA	p.P1720L		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1720	EGF-like 28; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.364583	108.21541	109.757125	35	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127645716	127645716	5939	5	G	A	A	A	611	47	FBN2	2	2
PCDHA7	56141	broad.mit.edu	37	5	140215064	140215064	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140215064G>T	uc003lhq.2	+	c.1096G>T	c.(1096-1098)GGT>TGT	p.G366C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.G366C	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	366	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.338235	62.800532	64.375778	23	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140215064	140215064	11949	5	G	T	T	T	455	35	PCDHA7	2	2
PCDHB5	26167	broad.mit.edu	37	5	140515335	140515335	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140515335C>T	uc003liq.2	+	c.319C>T	c.(319-321)CAG>TAG	p.Q107*		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	107	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.465753	107.151971	107.225392	34	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140515335	140515335	11965	5	C	T	T	T	273	21	PCDHB5	5	2
PCDHB9	56127	broad.mit.edu	37	5	140568929	140568929	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140568929C>A	uc003liw.1	+	c.2038C>A	c.(2038-2040)CAG>AAG	p.Q680K		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	680	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.218391	39.97873	46.347233	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140568929	140568929	11969	5	C	A	A	A	262	21	PCDHB9	2	2
PCDHB11	56125	broad.mit.edu	37	5	140580573	140580573	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140580573T>C	uc003liy.2	+	c.1226T>C	c.(1225-1227)CTG>CCG	p.L409P	PCDHB11_uc011daj.1_Missense_Mutation_p.L44P	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	409	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.433333	161.278628	161.74407	52	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140580573	140580573	11956	5	T	C	C	C	715	55	PCDHB11	4	4
PCDHGA1	56114	broad.mit.edu	37	5	140710332	140710332	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140710332G>T	uc003lji.1	+	c.81G>T	c.(79-81)GGG>GGT	p.G27G	PCDHGA1_uc011dan.1_Silent_p.G27G	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	27					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.344538	111.427592	113.97282	41	78	KEEP	---	---	---	---	capture		Silent	SNP	140710332	140710332	11970	5	G	T	T	T	548	43	PCDHGA1	2	2
PCDHGA7	56108	broad.mit.edu	37	5	140764329	140764329	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140764329G>T	uc003lka.1	+	c.1863G>T	c.(1861-1863)CTG>CTT	p.L621L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.L621L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	621	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.085714	0.397028	6.491541	3	32	KEEP	---	---	---	---	capture		Silent	SNP	140764329	140764329	11979	5	G	T	T	T	613	48	PCDHGA7	2	2
PPARGC1B	133522	broad.mit.edu	37	5	149210434	149210434	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149210434G>T	uc003lrc.2	+	c.570G>T	c.(568-570)CGG>CGT	p.R190R	PPARGC1B_uc003lrb.1_Silent_p.R190R|PPARGC1B_uc003lrd.2_Intron|PPARGC1B_uc003lrf.2_Silent_p.R169R|PPARGC1B_uc003lre.1_Silent_p.R169R	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	190					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription mediator activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)											0.416667	58.59014	58.881463	20	28	KEEP	---	---	---	---	capture		Silent	SNP	149210434	149210434	12731	5	G	T	T	T	535	42	PPARGC1B	2	2
ARSI	340075	broad.mit.edu	37	5	149677693	149677693	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149677693G>T	uc003lrv.2	-	c.794C>A	c.(793-795)GCC>GAC	p.A265D		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	265						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.48	35.912942	35.920529	12	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149677693	149677693	1012	5	G	T	T	T	546	42	ARSI	2	2
SGCD	6444	broad.mit.edu	37	5	155771558	155771558	+	Silent	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:155771558G>A	uc003lwc.3	+	c.63G>A	c.(61-63)CAG>CAA	p.Q21Q	SGCD_uc003lwa.1_Silent_p.Q21Q|SGCD_uc003lwb.2_Silent_p.Q21Q|SGCD_uc003lwd.3_Silent_p.Q20Q	NM_000337	NP_000328	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 1	20	Cytoplasmic (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.5	119.198855	119.198855	36	36	KEEP	---	---	---	---	capture		Silent	SNP	155771558	155771558	14692	5	G	A	A	A	451	35	SGCD	2	2
ADRA1B	147	broad.mit.edu	37	5	159344583	159344583	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:159344583G>T	uc003lxt.1	+	c.671G>T	c.(670-672)TGC>TTC	p.C224F		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	224	Helical; Name=5; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)									0.357895	97.127004	98.814854	34	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159344583	159344583	336	5	G	T	T	T	598	46	ADRA1B	2	2
MARCH11	441061	broad.mit.edu	37	5	16177940	16177940	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16177940A>C	uc003jfo.2	-	c.588T>G	c.(586-588)CAT>CAG	p.H196Q		NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	196	RING-CH-type.					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0														0.057692	-7.236424	14.104463	6	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16177940	16177940	9683	5	A	C	C	C	154	12	MARCH11	4	4
DOCK2	1794	broad.mit.edu	37	5	169122824	169122824	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169122824C>G	uc003maf.2	+	c.861C>G	c.(859-861)GAC>GAG	p.D287E	DOCK2_uc011der.1_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	287					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.466019	163.695467	163.79865	48	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169122824	169122824	4871	5	C	G	G	G	233	18	DOCK2	3	3
SH3PXD2B	285590	broad.mit.edu	37	5	171766497	171766497	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:171766497C>A	uc003mbr.2	-	c.1612G>T	c.(1612-1614)GAG>TAG	p.E538*		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	538					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.354839	29.015605	29.591447	11	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	171766497	171766497	14749	5	C	A	A	A	390	30	SH3PXD2B	5	2
NSD1	64324	broad.mit.edu	37	5	176638954	176638954	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176638954G>T	uc003mfr.3	+	c.3554G>T	c.(3553-3555)TGT>TTT	p.C1185F	NSD1_uc003mft.3_Missense_Mutation_p.C916F|NSD1_uc003mfs.1_Missense_Mutation_p.C1082F|NSD1_uc011dfx.1_Missense_Mutation_p.C833F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1185					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)						492				0.333333	77.248555	79.326834	28	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176638954	176638954	11074	5	G	T	T	T	624	48	NSD1	2	2
PROP1	5626	broad.mit.edu	37	5	177421211	177421211	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:177421211G>A	uc003mif.1	-	c.238C>T	c.(238-240)CAG>TAG	p.Q80*		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	80	Homeobox.				central nervous system development|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.532934	262.166366	262.322651	89	78	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	177421211	177421211	13000	5	G	A	A	A	598	46	PROP1	5	2
ADAMTS2	9509	broad.mit.edu	37	5	178699950	178699950	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178699950G>T	uc003mjw.2	-	c.650C>A	c.(649-651)ACG>AAG	p.T217K	ADAMTS2_uc011dgm.1_Missense_Mutation_p.T217K	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	217					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.5625	30.479088	30.534106	9	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178699950	178699950	266	5	G	T	T	T	520	40	ADAMTS2	1	1
CDH18	1016	broad.mit.edu	37	5	19473541	19473541	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19473541C>T	uc003jgc.2	-	c.2167G>A	c.(2167-2169)GCA>ACA	p.A723T	CDH18_uc003jgd.2_Missense_Mutation_p.A723T|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	723	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.103448	14.214749	41.468807	18	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19473541	19473541	3232	5	C	T	T	T	364	28	CDH18	2	2
CDH9	1007	broad.mit.edu	37	5	26902619	26902619	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26902619C>T	uc003jgs.1	-	c.1219G>A	c.(1219-1221)GCA>ACA	p.A407T		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	407	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.2	46.890836	56.096977	22	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26902619	26902619	3246	5	C	T	T	T	364	28	CDH9	2	2
RANBP3L	202151	broad.mit.edu	37	5	36265170	36265170	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36265170C>A	uc011cow.1	-	c.446G>T	c.(445-447)AGA>ATA	p.R149I	RANBP3L_uc003jkh.2_Missense_Mutation_p.R124I	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 1	124					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)											0.246154	38.570903	42.382917	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36265170	36265170	13490	5	C	A	A	A	416	32	RANBP3L	2	2
EGFLAM	133584	broad.mit.edu	37	5	38464048	38464048	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38464048C>A	uc003jlc.1	+	c.3014C>A	c.(3013-3015)GCC>GAC	p.A1005D	EGFLAM_uc003jlb.1_Missense_Mutation_p.A997D|EGFLAM_uc003jle.1_Missense_Mutation_p.A763D|EGFLAM_uc003jlf.1_Missense_Mutation_p.A363D|EGFLAM_uc003jlg.1_Missense_Mutation_p.A140D|EGFLAM_uc003jlh.1_Missense_Mutation_p.A87D	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	1005	Laminin G-like 3.			A -> S (in Ref. 5; AAH33177).		cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.233333	50.230491	56.087909	21	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38464048	38464048	5155	5	C	A	A	A	338	26	EGFLAM	2	2
PTGER4	5734	broad.mit.edu	37	5	40681904	40681904	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40681904T>A	uc003jlz.2	+	c.809T>A	c.(808-810)ATG>AAG	p.M270K		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	270	Helical; Name=6; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity				0														0.425	52.969152	53.165197	17	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40681904	40681904	13200	5	T	A	A	A	663	51	PTGER4	3	3
HEATR7B2	133558	broad.mit.edu	37	5	41010047	41010047	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41010047T>G	uc003jmj.3	-	c.3270A>C	c.(3268-3270)TTA>TTC	p.L1090F	HEATR7B2_uc003jmi.3_Missense_Mutation_p.L645F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1090							binding			ovary(6)|central_nervous_system(2)	8														0.221622	101.264842	114.479724	41	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41010047	41010047	7318	5	T	G	G	G	738	57	HEATR7B2	4	4
SLC38A9	153129	broad.mit.edu	37	5	54960566	54960566	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54960566C>T	uc003jqf.2	-	c.652G>A	c.(652-654)GTG>ATG	p.V218M	SLC38A9_uc003jqd.2_Missense_Mutation_p.V155M|SLC38A9_uc010ivx.2_Missense_Mutation_p.V191M|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Missense_Mutation_p.V89M	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	218	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)												0.409091	52.039983	52.358127	18	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54960566	54960566	15108	5	C	T	T	T	234	18	SLC38A9	2	2
BDP1	55814	broad.mit.edu	37	5	70837343	70837343	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70837343G>C	uc003kbp.1	+	c.6085G>C	c.(6085-6087)GAT>CAT	p.D2029H	BDP1_uc003kbo.2_Missense_Mutation_p.D2029H|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2029					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)										0.479167	77.222452	77.240594	23	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70837343	70837343	1417	5	G	C	C	C	429	33	BDP1	3	3
CRHBP	1393	broad.mit.edu	37	5	76259266	76259266	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:76259266C>T	uc003ker.2	+	c.792C>T	c.(790-792)TGC>TGT	p.C264C		NM_001882	NP_001873	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	264					female pregnancy|learning or memory|signal transduction	soluble fraction					0		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)										0.04878	-18.643785	16.844081	8	156	KEEP	---	---	---	---	capture		Silent	SNP	76259266	76259266	4009	5	C	T	T	T	363	28	CRHBP	2	2
BRD9	65980	broad.mit.edu	37	5	881275	881275	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:881275C>T	uc003jbq.2	-	c.989G>A	c.(988-990)GGG>GAG	p.G330E	BRD9_uc003jbl.2_Missense_Mutation_p.G214E|BRD9_uc003jbm.2_Non-coding_Transcript|BRD9_uc003jbn.2_Non-coding_Transcript|BRD9_uc011cmb.1_Missense_Mutation_p.G277E|BRD9_uc003jbo.2_Missense_Mutation_p.G234E|BRD9_uc003jbp.2_Intron|BRD9_uc011cmc.1_Intron	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	330							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)											0.169811	18.145471	23.610308	9	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	881275	881275	1538	5	C	T	T	T	286	22	BRD9	2	2
GPR98	84059	broad.mit.edu	37	5	89953780	89953780	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89953780G>T	uc003kju.2	+	c.4437G>T	c.(4435-4437)CTG>CTT	p.L1479L	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1479	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.433566	181.829245	182.378771	62	81	KEEP	---	---	---	---	capture		Silent	SNP	89953780	89953780	6997	5	G	T	T	T	574	45	GPR98	2	2
GRIK2	2898	broad.mit.edu	37	6	102483249	102483249	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102483249G>T	uc003pqp.3	+	c.2119G>T	c.(2119-2121)GCC>TCC	p.A707S	GRIK2_uc003pqo.3_Missense_Mutation_p.A707S|GRIK2_uc010kcw.2_Missense_Mutation_p.A707S	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	707	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|breast(1)|pancreas(1)	4		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)									0.38806	71.430088	72.16705	26	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102483249	102483249	7053	6	G	T	T	T	546	42	GRIK2	2	2
HS3ST5	222537	broad.mit.edu	37	6	114379344	114379344	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:114379344T>A	uc003pwg.3	-	c.118A>T	c.(118-120)ATT>TTT	p.I40F	HS3ST5_uc003pwh.3_Missense_Mutation_p.I40F	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	40	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)										0.5	21.02282	21.02282	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114379344	114379344	7662	6	T	A	A	A	663	51	HS3ST5	3	3
ZUFSP	221302	broad.mit.edu	37	6	116972826	116972826	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116972826C>A	uc003pxf.1	-	c.1225G>T	c.(1225-1227)GGG>TGG	p.G409W	ZUFSP_uc010kef.1_Missense_Mutation_p.G213W	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	409						intracellular	zinc ion binding				0				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)										0.25	27.101023	29.603068	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116972826	116972826	18851	6	C	A	A	A	286	22	ZUFSP	2	2
C6orf170	221322	broad.mit.edu	37	6	121434319	121434319	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121434319C>A	uc003pyo.1	-	c.3058G>T	c.(3058-3060)GGC>TGC	p.G1020C	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_Missense_Mutation_p.G119C|C6orf170_uc003pyp.1_Missense_Mutation_p.G580C	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	1020					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)										0.277778	27.333925	28.933816	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121434319	121434319	2449	6	C	A	A	A	273	21	C6orf170	2	2
LAMA2	3908	broad.mit.edu	37	6	129785486	129785486	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129785486T>A	uc003qbn.2	+	c.7044T>A	c.(7042-7044)TAT>TAA	p.Y2348*	LAMA2_uc003qbo.2_Nonsense_Mutation_p.Y2348*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2348	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.409091	86.315124	86.791031	27	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129785486	129785486	8929	6	T	A	A	A	660	51	LAMA2	5	3
NMBR	4829	broad.mit.edu	37	6	142409565	142409565	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:142409565G>T	uc003qiu.2	-	c.231C>A	c.(229-231)GTC>GTA	p.V77V		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	77	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)	3	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)										0.3	14.944209	15.657902	6	14	KEEP	---	---	---	---	capture		Silent	SNP	142409565	142409565	10890	6	G	T	T	T	522	41	NMBR	2	2
STX11	8676	broad.mit.edu	37	6	144507902	144507902	+	Silent	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144507902A>T	uc003qks.3	+	c.138A>T	c.(136-138)CGA>CGT	p.R46R		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	46	Potential.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)										0.272727	7.82006	8.332252	3	8	KEEP	---	---	---	---	capture		Silent	SNP	144507902	144507902	15857	6	A	T	T	T	132	11	STX11	3	3
SYNE1	23345	broad.mit.edu	37	6	152716805	152716805	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152716805A>T	uc010kiw.2	-	c.7558T>A	c.(7558-7560)TTT>ATT	p.F2520I	SYNE1_uc003qot.3_Missense_Mutation_p.F2527I|SYNE1_uc003qou.3_Missense_Mutation_p.F2520I|SYNE1_uc010kjb.1_Missense_Mutation_p.F2503I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2520	Cytoplasmic (Potential).|Spectrin 5.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.297297	31.310395	32.669713	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152716805	152716805	15966	6	A	T	T	T	39	3	SYNE1	3	3
IGF2R	3482	broad.mit.edu	37	6	160485539	160485539	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160485539C>T	uc003qta.2	+	c.3993C>T	c.(3991-3993)TTC>TTT	p.F1331F		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1331	9.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)										0.3	60.44911	62.94986	21	49	KEEP	---	---	---	---	capture		Silent	SNP	160485539	160485539	7877	6	C	T	T	T	415	32	IGF2R	2	2
TRIM15	89870	broad.mit.edu	37	6	30138770	30138770	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30138770C>A	uc010jrx.2	+	c.865C>A	c.(865-867)CTG>ATG	p.L289M		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	289	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding				0														0.416667	171.763511	172.639009	60	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30138770	30138770	17034	6	C	A	A	A	415	32	TRIM15	2	2
PSORS1C2	170680	broad.mit.edu	37	6	31105978	31105978	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31105978C>T	uc003nso.3	-	c.161G>A	c.(160-162)TGG>TAG	p.W54*	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron	NM_014069	NP_054788	Q9UIG4	PS1C2_HUMAN	SPR1 protein precursor	54						extracellular region					0														0.627907	79.999088	80.609131	27	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31105978	31105978	13169	6	C	T	T	T	273	21	PSORS1C2	5	2
PRPF4B	8899	broad.mit.edu	37	6	4032299	4032299	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:4032299G>C	uc003mvv.2	+	c.548G>C	c.(547-549)CGA>CCA	p.R183P	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	183	Arg/Lys-rich (basic).				nuclear mRNA splicing, via spliceosome|protein phosphorylation	catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(4)	4	Ovarian(93;0.0925)	all_hematologic(90;0.0895)								298				0.497076	294.974606	294.975816	85	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4032299	4032299	13016	6	G	C	C	C	481	37	PRPF4B	3	3
SPATS1	221409	broad.mit.edu	37	6	44329629	44329629	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44329629C>T	uc003oxk.2	+	c.474C>T	c.(472-474)TAC>TAT	p.Y158Y	SPATS1_uc003oxg.2_Non-coding_Transcript|SPATS1_uc010jzb.2_Silent_p.Y43Y	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	158											0	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)											0.435484	159.529408	159.979588	54	70	KEEP	---	---	---	---	capture		Silent	SNP	44329629	44329629	15528	6	C	T	T	T	233	18	SPATS1	2	2
EXOC2	55770	broad.mit.edu	37	6	497487	497487	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:497487C>T	uc003mtd.2	-	c.2439G>A	c.(2437-2439)GTG>GTA	p.V813V	EXOC2_uc003mte.2_Silent_p.V813V|EXOC2_uc011dho.1_Silent_p.V408V	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	813					exocytosis|protein transport					ovary(2)|breast(2)|pancreas(1)	5	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)										0.386364	141.986825	143.482785	51	81	KEEP	---	---	---	---	capture		Silent	SNP	497487	497487	5495	6	C	T	T	T	210	17	EXOC2	2	2
C6orf142	90523	broad.mit.edu	37	6	53989530	53989530	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:53989530G>T	uc011dxa.1	+	c.512G>T	c.(511-513)CGG>CTG	p.R171L	C6orf142_uc003pcf.2_Missense_Mutation_p.R160L|C6orf142_uc003pcg.3_Missense_Mutation_p.R160L|C6orf142_uc003pch.3_Missense_Mutation_p.R98L|C6orf142_uc011dwz.1_Missense_Mutation_p.R119L	NM_138569	NP_612636	Q5VWP3	CF142_HUMAN	hypothetical protein LOC90523	160											0	Lung NSC(77;0.0317)													0.402299	100.807398	101.532897	35	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53989530	53989530	2437	6	G	T	T	T	507	39	C6orf142	1	1
OOEP	441161	broad.mit.edu	37	6	74078998	74078998	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:74078998G>A	uc003pgu.3	-	c.301C>T	c.(301-303)CGT>TGT	p.R101C	OOEP_uc003pgv.3_Missense_Mutation_p.R46C	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	101	KH; atypical.					cytoplasm					0														0.636364	47.256011	47.616165	14	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74078998	74078998	11276	6	G	A	A	A	507	39	OOEP	1	1
PHIP	55023	broad.mit.edu	37	6	79770483	79770483	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:79770483C>A	uc003pir.2	-	c.242G>T	c.(241-243)CGA>CTA	p.R81L	PHIP_uc011dyp.1_Missense_Mutation_p.R81L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	81					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|ovary(1)	5		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)						490				0.424658	96.314383	96.675503	31	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79770483	79770483	12266	6	C	A	A	A	403	31	PHIP	1	1
LAMB4	22798	broad.mit.edu	37	7	107746440	107746440	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107746440G>T	uc010ljo.1	-	c.692C>A	c.(691-693)ACC>AAC	p.T231N	LAMB4_uc003vey.2_Missense_Mutation_p.T231N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	231	Laminin N-terminal.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.430769	85.889229	86.160997	28	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107746440	107746440	8936	7	G	T	T	T	572	44	LAMB4	2	2
DOCK4	9732	broad.mit.edu	37	7	111398697	111398697	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111398697T>C	uc003vfy.2	-	c.4420A>G	c.(4420-4422)AAA>GAA	p.K1474E	DOCK4_uc011kml.1_Missense_Mutation_p.K310E|DOCK4_uc011kmm.1_Missense_Mutation_p.K336E|DOCK4_uc003vfw.2_Missense_Mutation_p.K879E|DOCK4_uc003vfx.2_Missense_Mutation_p.K1429E	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1429	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.560976	84.331672	84.464681	23	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111398697	111398697	4873	7	T	C	C	C	793	61	DOCK4	4	4
THSD7A	221981	broad.mit.edu	37	7	11452302	11452302	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11452302G>T	uc003ssf.3	-	c.3663C>A	c.(3661-3663)CAC>CAA	p.H1221Q		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1221	TSP type-1 12.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.592593	103.006669	103.410576	32	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11452302	11452302	16407	7	G	T	T	T	464	36	THSD7A	2	2
ATP6V1F	9296	broad.mit.edu	37	7	128505565	128505565	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128505565A>G	uc003voc.1	+	c.293A>G	c.(292-294)TAT>TGT	p.Y98C	KCP_uc003vob.1_Intron	NM_004231	NP_004222	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kD, V1	98					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1														0.857143	19.976301	20.799245	6	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128505565	128505565	1204	7	A	G	G	G	208	16	ATP6V1F	4	4
NUP205	23165	broad.mit.edu	37	7	135262700	135262700	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135262700C>T	uc003vsw.2	+	c.805C>T	c.(805-807)CTG>TTG	p.L269L	NUP205_uc011kqa.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	269					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.483333	93.475945	93.49017	29	31	KEEP	---	---	---	---	capture		Silent	SNP	135262700	135262700	11164	7	C	T	T	T	415	32	NUP205	2	2
CHRM2	1129	broad.mit.edu	37	7	136699885	136699885	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136699885G>T	uc003vtf.1	+	c.273G>T	c.(271-273)TTG>TTT	p.L91F	CHRM2_uc003vtg.1_Missense_Mutation_p.L91F|CHRM2_uc003vtj.1_Missense_Mutation_p.L91F|CHRM2_uc003vtk.1_Missense_Mutation_p.L91F|CHRM2_uc003vtl.1_Missense_Mutation_p.L91F|CHRM2_uc003vtm.1_Missense_Mutation_p.L91F|CHRM2_uc003vti.1_Missense_Mutation_p.L91F|CHRM2_uc003vto.1_Missense_Mutation_p.L91F|CHRM2_uc003vtn.1_Missense_Mutation_p.L91F	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	91	Extracellular (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.395161	147.244877	148.438875	49	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136699885	136699885	3511	7	G	T	T	T	607	47	CHRM2	2	2
DGKI	9162	broad.mit.edu	37	7	137374668	137374668	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137374668T>C	uc003vtt.2	-	c.482A>G	c.(481-483)AAG>AGG	p.K161R	DGKI_uc003vtu.2_Intron	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	161					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.26087	18.639539	19.829783	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137374668	137374668	4650	7	T	C	C	C	728	56	DGKI	4	4
DENND2A	27147	broad.mit.edu	37	7	140287451	140287451	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140287451A>T	uc010lnj.2	-	c.1123_splice	c.e2+1	p.D375_splice	DENND2A_uc011kre.1_Splice_Site_SNP|DENND2A_uc010lnk.2_Splice_Site_SNP_p.D375_splice|DENND2A_uc003vvw.2_Splice_Site_SNP_p.D375_splice|DENND2A_uc003vvx.2_Splice_Site_SNP_p.D375_splice	NM_015689	NP_056504			DENN/MADD domain containing 2A											ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.435484	80.683864	80.893622	27	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	140287451	140287451	4608	7	A	T	T	T	182	14	DENND2A	5	3
HECW1	23072	broad.mit.edu	37	7	43400571	43400571	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43400571G>T	uc003tid.1	+	c.547G>T	c.(547-549)GCA>TCA	p.A183S	HECW1_uc011kbi.1_Missense_Mutation_p.A183S|HECW1_uc003tie.1_Missense_Mutation_p.A215S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	183					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				0.307692	43.580669	45.294952	16	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43400571	43400571	7325	7	G	T	T	T	546	42	HECW1	2	2
ADCY1	107	broad.mit.edu	37	7	45743309	45743309	+	Silent	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45743309G>T	uc003tne.3	+	c.2682G>T	c.(2680-2682)CTG>CTT	p.L894L		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	894	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)									0.363636	144.144009	146.489839	52	91	KEEP	---	---	---	---	capture		Silent	SNP	45743309	45743309	293	7	G	T	T	T	587	46	ADCY1	2	2
POM121L12	285877	broad.mit.edu	37	7	53104135	53104135	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53104135C>A	uc003tpz.2	+	c.771C>A	c.(769-771)GTC>GTA	p.V257V		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	257											0														0.638298	179.008485	180.58773	60	34	KEEP	---	---	---	---	capture		Silent	SNP	53104135	53104135	12669	7	C	A	A	A	379	30	POM121L12	2	2
BAZ1B	9031	broad.mit.edu	37	7	72891240	72891240	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72891240G>C	uc003tyc.2	-	c.2551C>G	c.(2551-2553)CAA>GAA	p.Q851E		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	851	Potential.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|transcription regulator activity|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|breast(1)	5		Lung NSC(55;0.0659)|all_lung(88;0.152)				Esophageal Squamous(112;1167 1561 21085 43672 48228)								0.733333	288.925622	294.089137	77	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72891240	72891240	1351	7	G	C	C	C	585	45	BAZ1B	3	3
CD36	948	broad.mit.edu	37	7	80295773	80295773	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:80295773G>T	uc003uhc.2	+	c.716G>T	c.(715-717)TGG>TTG	p.W239L	CD36_uc003uhd.3_Missense_Mutation_p.W239L|CD36_uc011kgv.1_Missense_Mutation_p.W163L|CD36_uc003uhe.3_Missense_Mutation_p.W239L|CD36_uc003uhf.3_Missense_Mutation_p.W239L|CD36_uc003uhg.3_Missense_Mutation_p.W239L|CD36_uc003uhh.3_Missense_Mutation_p.W239L	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	239	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1														0.3125	14.268734	14.769715	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80295773	80295773	3135	7	G	T	T	T	611	47	CD36	2	2
HGF	3082	broad.mit.edu	37	7	81346574	81346574	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81346574G>T	uc003uhl.2	-	c.1379C>A	c.(1378-1380)CCT>CAT	p.P460H	HGF_uc003uhm.2_Missense_Mutation_p.P455H	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	460	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.396694	142.271217	143.402281	48	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81346574	81346574	7369	7	G	T	T	T	455	35	HGF	2	2
ZNF804B	219578	broad.mit.edu	37	7	88965765	88965765	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88965765A>T	uc011khi.1	+	c.3469A>T	c.(3469-3471)AAA>TAA	p.K1157*		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1157						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.448276	111.201435	111.405441	39	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88965765	88965765	18769	7	A	T	T	T	169	13	ZNF804B	5	3
CCDC132	55610	broad.mit.edu	37	7	92952939	92952939	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92952939G>T	uc003umo.2	+	c.1872G>T	c.(1870-1872)ATG>ATT	p.M624I	CCDC132_uc003umq.2_Non-coding_Transcript|CCDC132_uc003ump.2_Missense_Mutation_p.M594I|CCDC132_uc003umr.2_Non-coding_Transcript|CCDC132_uc011khz.1_Missense_Mutation_p.M344I	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	624											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)											0.266667	20.787134	22.262077	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92952939	92952939	2887	7	G	T	T	T	585	45	CCDC132	2	2
CCDC132	55610	broad.mit.edu	37	7	92978026	92978026	+	Silent	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92978026A>G	uc003umo.2	+	c.2211A>G	c.(2209-2211)GTA>GTG	p.V737V	CCDC132_uc003umq.2_Non-coding_Transcript|CCDC132_uc003ump.2_Silent_p.V707V|CCDC132_uc003umr.2_Non-coding_Transcript|CCDC132_uc011khz.1_Silent_p.V457V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	737											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)											0.341463	43.204655	44.130907	14	27	KEEP	---	---	---	---	capture		Silent	SNP	92978026	92978026	2887	7	A	G	G	G	197	16	CCDC132	4	4
ODF1	4956	broad.mit.edu	37	8	103572954	103572954	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:103572954G>T	uc003ykt.2	+	c.595G>T	c.(595-597)GAG>TAG	p.E199*		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	199					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)											0.227273	13.165835	14.665894	5	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103572954	103572954	11231	8	G	T	T	T	481	37	ODF1	5	1
ZFPM2	23414	broad.mit.edu	37	8	106814331	106814331	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106814331G>A	uc003ymd.2	+	c.2021G>A	c.(2020-2022)AGT>AAT	p.S674N	ZFPM2_uc011lhs.1_Missense_Mutation_p.S405N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	674					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			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)											0.488372	63.860814	63.866167	21	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106814331	106814331	18248	8	G	A	A	A	468	36	ZFPM2	2	2
TRHR	7201	broad.mit.edu	37	8	110099765	110099765	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110099765A>T	uc003ymz.3	+	c.24A>T	c.(22-24)GAA>GAT	p.E8D		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	8	Extracellular (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity				0			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)											0.473118	127.07972	127.138954	44	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110099765	110099765	17024	8	A	T	T	T	24	2	TRHR	3	3
GPIHBP1	338328	broad.mit.edu	37	8	144297260	144297261	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144297260_144297261GG>TT	uc003yxu.1	+	c.422_423GG>TT	c.(421-423)TGG>TTT	p.W141F		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	141	UPAR/Ly6.				cholesterol homeostasis|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|high-density lipoprotein particle|integral to membrane	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													1	27.146294	27.138504	7	0	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	144297260	144297261	6886	8	GG	TT	TT	TT	611	47	GPIHBP1	2	2
SCRIB	23513	broad.mit.edu	37	8	144895816	144895816	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144895816T>C	uc003yzo.1	-	c.437A>G	c.(436-438)GAC>GGC	p.D146G	SCRIB_uc003yzp.1_Missense_Mutation_p.D146G|MIR937_hsa-mir-937|MI0005759_5'Flank	NM_182706	NP_874365	Q14160	SCRIB_HUMAN	scribble isoform a	146	Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 5.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	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)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			Pancreas(51;966 1133 10533 14576 29674)				520				0.285714	11.49517	12.071452	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144895816	144895816	14419	8	T	C	C	C	754	58	SCRIB	4	4
KIFC2	90990	broad.mit.edu	37	8	145693120	145693121	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145693120_145693121GG>TT	uc003zcz.2	+	c.639_640GG>TT	c.(637-642)CTGGAA>CTTTAA	p.E214*	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	214	Potential.|Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	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)		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)									OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.230769	7.718238	8.581714	3	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	145693120	145693121	8624	8	GG	TT	TT	TT	600	47	KIFC2	5	2
MTMR7	9108	broad.mit.edu	37	8	17228593	17228593	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17228593C>A	uc003wxm.2	-	c.263G>T	c.(262-264)AGA>ATA	p.R88I		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	88							protein tyrosine phosphatase activity				0				Colorectal(111;0.112)										0.432099	101.615538	101.940286	35	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17228593	17228593	10341	8	C	A	A	A	416	32	MTMR7	2	2
CSMD1	64478	broad.mit.edu	37	8	2808759	2808759	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2808759C>A	uc011kwk.1	-	c.10081G>T	c.(10081-10083)GGG>TGG	p.G3361W	CSMD1_uc011kwj.1_Missense_Mutation_p.G2675W|CSMD1_uc010lrg.2_Missense_Mutation_p.G1252W	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3361	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)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.47619	29.452312	29.462311	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2808759	2808759	4085	8	C	A	A	A	286	22	CSMD1	2	2
CSMD1	64478	broad.mit.edu	37	8	2876020	2876020	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2876020C>T	uc011kwk.1	-	c.8011G>A	c.(8011-8013)GGC>AGC	p.G2671S	CSMD1_uc011kwj.1_Missense_Mutation_p.G2000S|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2671	Extracellular (Potential).|Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.448598	465.070203	465.788662	144	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2876020	2876020	4085	8	C	T	T	T	299	23	CSMD1	1	1
TEX15	56154	broad.mit.edu	37	8	30699628	30699628	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30699628G>T	uc003xil.2	-	c.6906C>A	c.(6904-6906)AAC>AAA	p.N2302K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2302										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.517241	49.624964	49.632409	15	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30699628	30699628	16306	8	G	T	T	T	620	48	TEX15	2	2
CSMD1	64478	broad.mit.edu	37	8	3165275	3165275	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3165275A>T	uc011kwk.1	-	c.3895T>A	c.(3895-3897)TAT>AAT	p.Y1299N	CSMD1_uc011kwj.1_Missense_Mutation_p.Y691N|CSMD1_uc003wqe.2_Missense_Mutation_p.Y455N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1299	Extracellular (Potential).|CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.440945	335.461689	336.233173	112	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3165275	3165275	4085	8	A	T	T	T	182	14	CSMD1	3	3
KCNU1	157855	broad.mit.edu	37	8	36763324	36763324	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36763324T>A	uc010lvw.2	+	c.2106_splice	c.e20+2	p.L702_splice	KCNU1_uc003xjw.2_Splice_Site_SNP	NM_001031836	NP_001027006			potassium channel, subfamily U, member 1							voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.387931	130.541815	131.820065	45	71	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	36763324	36763324	8398	8	T	A	A	A	741	57	KCNU1	5	3
ANK1	286	broad.mit.edu	37	8	41554090	41554090	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41554090G>T	uc003xom.2	-	c.2874C>A	c.(2872-2874)TTC>TTA	p.F958L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.F233L|ANK1_uc003xoi.2_Missense_Mutation_p.F917L|ANK1_uc003xoj.2_Missense_Mutation_p.F917L|ANK1_uc003xok.2_Missense_Mutation_p.F917L|ANK1_uc003xol.2_Missense_Mutation_p.F917L	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	917	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)	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)											0.555556	30.750726	30.798938	10	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41554090	41554090	623	8	G	T	T	T	581	45	ANK1	2	2
ANK1	286	broad.mit.edu	37	8	41577349	41577349	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41577349C>A	uc003xom.2	-	c.1036G>T	c.(1036-1038)GCT>TCT	p.A346S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.A313S|ANK1_uc003xoj.2_Missense_Mutation_p.A313S|ANK1_uc003xok.2_Missense_Mutation_p.A313S|ANK1_uc003xol.2_Missense_Mutation_p.A313S	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	313	ANK 9.|89 kDa domain.				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)	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)											0.569231	110.676752	110.947465	37	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41577349	41577349	623	8	C	A	A	A	338	26	ANK1	2	2
CHRNA6	8973	broad.mit.edu	37	8	42611340	42611340	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42611340C>T	uc003xpj.2	-	c.1002G>A	c.(1000-1002)ACG>ACA	p.T334T	CHRNA6_uc011lcw.1_Silent_p.T319T	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	334	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.387097	104.482258	105.519674	36	57	KEEP	---	---	---	---	capture		Silent	SNP	42611340	42611340	3521	8	C	T	T	T	340	27	CHRNA6	1	1
PXDNL	137902	broad.mit.edu	37	8	52323874	52323874	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52323874C>A	uc003xqu.3	-	c.1998G>T	c.(1996-1998)GAG>GAT	p.E666D	PXDNL_uc003xqt.3_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	666					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.555556	15.074657	15.098687	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52323874	52323874	13306	8	C	A	A	A	363	28	PXDNL	2	2
C8orf46	254778	broad.mit.edu	37	8	67422390	67422390	+	Silent	SNP	C	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67422390C>T	uc003xwg.2	+	c.340C>T	c.(340-342)CTG>TTG	p.L114L	C8orf46_uc003xwh.2_Non-coding_Transcript|C8orf46_uc011let.1_Intron|C8orf46_uc003xwi.2_5'UTR	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	114											0			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)											0.391304	28.070682	28.308417	9	14	KEEP	---	---	---	---	capture		Silent	SNP	67422390	67422390	2541	8	C	T	T	T	415	32	C8orf46	2	2
TRPA1	8989	broad.mit.edu	37	8	72973926	72973926	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72973926G>T	uc003xza.2	-	c.878C>A	c.(877-879)TCG>TAG	p.S293*		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	293	Cytoplasmic (Potential).|ANK 7.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.444444	109.789786	110.007502	36	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72973926	72973926	17128	8	G	T	T	T	481	37	TRPA1	5	1
OR13C8	138802	broad.mit.edu	37	9	107332204	107332204	+	Silent	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107332204T>C	uc011lvo.1	+	c.756T>C	c.(754-756)TAT>TAC	p.Y252Y		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.35	59.656724	60.847863	21	39	KEEP	---	---	---	---	capture		Silent	SNP	107332204	107332204	11344	9	T	C	C	C	660	51	OR13C8	4	4
ASTN2	23245	broad.mit.edu	37	9	119582938	119582938	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119582938A>T	uc004bjs.1	-	c.2165T>A	c.(2164-2166)CTG>CAG	p.L722Q	ASTN2_uc004bjr.1_Missense_Mutation_p.L718Q|ASTN2_uc004bjt.1_Missense_Mutation_p.L671Q	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	722	Extracellular (Potential).|EGF-like 3.					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.352273	89.005303	90.695862	31	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119582938	119582938	1084	9	A	T	T	T	91	7	ASTN2	3	3
TLR4	7099	broad.mit.edu	37	9	120474728	120474728	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120474728A>G	uc004bjz.2	+	c.322A>G	c.(322-324)ATA>GTA	p.I108V	TLR4_uc004bka.2_Missense_Mutation_p.I68V|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	108	LRR 3.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.393443	79.988608	80.5944	24	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120474728	120474728	16483	9	A	G	G	G	52	4	TLR4	4	4
RABEPK	10244	broad.mit.edu	37	9	127996228	127996228	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:127996228A>G	uc004bpi.2	+	c.1088A>G	c.(1087-1089)TAT>TGT	p.Y363C	RABEPK_uc004bpj.2_Missense_Mutation_p.Y312C|RABEPK_uc004bpk.2_Missense_Mutation_p.Y363C|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.Y363C	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	363					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1														0.510949	244.453707	244.468053	70	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127996228	127996228	13422	9	A	G	G	G	208	16	RABEPK	4	4
NTNG2	84628	broad.mit.edu	37	9	135073796	135073796	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135073796C>A	uc004cbh.2	+	c.657C>A	c.(655-657)TTC>TTA	p.F219L		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	219	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)										0.428571	28.372133	28.465498	9	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135073796	135073796	11110	9	C	A	A	A	402	31	NTNG2	1	1
RNF38	152006	broad.mit.edu	37	9	36356416	36356416	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36356416G>A	uc003zzh.2	-	c.793C>T	c.(793-795)CCC>TCC	p.P265S	RNF38_uc003zzi.2_Missense_Mutation_p.P215S|RNF38_uc003zzj.2_Missense_Mutation_p.P182S|RNF38_uc003zzk.2_Missense_Mutation_p.P182S|RNF38_uc003zzl.2_Missense_Mutation_p.P189S|RNF38_uc003zzm.2_Missense_Mutation_p.P182S	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	265	Pro-rich.						zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)											0.278689	44.553917	47.23827	17	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36356416	36356416	13969	9	G	A	A	A	572	44	RNF38	2	2
FLJ46321	389763	broad.mit.edu	37	9	84607070	84607070	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84607070C>A	uc004amn.2	+	c.1685C>A	c.(1684-1686)CCC>CAC	p.P562H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	562						integral to membrane					0														0.426667	288.565275	289.620123	96	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84607070	84607070	6174	9	C	A	A	A	286	22	FLJ46321	2	2
NTRK2	4915	broad.mit.edu	37	9	87549120	87549120	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:87549120G>C	uc004anz.1	+	c.1677G>C	c.(1675-1677)GAG>GAC	p.E559D	NTRK2_uc004any.1_Missense_Mutation_p.E543D|NTRK2_uc004aoa.1_Missense_Mutation_p.E543D	NM_006180	NP_006171	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	543	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.E559D(1)		lung(8)|ovary(1)|liver(1)|central_nervous_system(1)|skin(1)	12									p.E559E(SKMEL2-Tumor)	348	TSP Lung(25;0.17)			0.490196	84.873408	84.87769	25	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87549120	87549120	11112	9	G	C	C	C	438	34	NTRK2	3	3
NKRF	55922	broad.mit.edu	37	X	118723942	118723942	+	Silent	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118723942C>A	uc004erq.2	-	c.1446G>T	c.(1444-1446)GTG>GTT	p.V482V	NKRF_uc004err.2_Silent_p.V482V	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	482					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding|specific transcriptional repressor activity			ovary(1)|central_nervous_system(1)	2														0.065574	-3.652695	8.301102	4	57	KEEP	---	---	---	---	capture		Silent	SNP	118723942	118723942	10848	23	C	A	A	A	366	29	NKRF	2	2
BCORL1	63035	broad.mit.edu	37	X	129148380	129148380	+	Silent	SNP	C	G	G			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129148380C>G	uc004evb.1	+	c.1632C>G	c.(1630-1632)GTC>GTG	p.V544V	BCORL1_uc010nrd.1_Silent_p.V446V	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	544	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.333333	85.878329	87.941628	28	56	KEEP	---	---	---	---	capture		Silent	SNP	129148380	129148380	1408	23	C	G	G	G	379	30	BCORL1	3	3
SOX3	6658	broad.mit.edu	37	X	139586819	139586819	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:139586819T>C	uc004fbd.1	-	c.407A>G	c.(406-408)CAG>CGG	p.Q136R		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)													0.6875	32.226746	32.726383	11	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139586819	139586819	15451	23	T	C	C	C	715	55	SOX3	4	4
CNKSR2	22866	broad.mit.edu	37	X	21609190	21609190	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21609190C>A	uc004czx.1	+	c.1708C>A	c.(1708-1710)CGT>AGT	p.R570S	CNKSR2_uc004czw.2_Missense_Mutation_p.R570S|CNKSR2_uc011mjn.1_Missense_Mutation_p.R521S|CNKSR2_uc011mjo.1_Missense_Mutation_p.R540S|CNKSR2_uc004czy.2_Missense_Mutation_p.R162S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	570	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)	1														0.880734	343.573066	359.085874	96	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21609190	21609190	3745	23	C	A	A	A	299	23	CNKSR2	1	1
DCAF8L1	139425	broad.mit.edu	37	X	27998043	27998043	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27998043G>A	uc004dbx.1	-	c.1409C>T	c.(1408-1410)TCC>TTC	p.S470F		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	470	WD 6.									ovary(3)	3														0.923077	82.017114	85.786892	24	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27998043	27998043	4448	23	G	A	A	A	533	41	DCAF8L1	2	2
IL1RAPL1	11141	broad.mit.edu	37	X	29417342	29417342	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:29417342G>T	uc004dby.2	+	c.620G>T	c.(619-621)AGA>ATA	p.R207I		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	207	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.972973	124.284192	126.366079	36	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29417342	29417342	7962	23	G	T	T	T	429	33	IL1RAPL1	2	2
DMD	1756	broad.mit.edu	37	X	31165492	31165492	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31165492C>A	uc004dda.1	-	c.10697G>T	c.(10696-10698)CGT>CTT	p.R3566L	DMD_uc004dcq.1_Missense_Mutation_p.R837L|DMD_uc004dcr.1_Missense_Mutation_p.R986L|DMD_uc004dcs.1_Missense_Mutation_p.R996L|DMD_uc004dct.1_Missense_Mutation_p.R1106L|DMD_uc004dcu.1_Missense_Mutation_p.R1106L|DMD_uc004dcv.1_Missense_Mutation_p.R1093L|DMD_uc004dcw.2_Missense_Mutation_p.R2222L|DMD_uc004dcx.2_Missense_Mutation_p.R2225L|DMD_uc004dcz.2_Missense_Mutation_p.R3443L|DMD_uc004dcy.1_Missense_Mutation_p.R3562L|DMD_uc004ddb.1_Missense_Mutation_p.R3558L|DMD_uc004dcm.1_Missense_Mutation_p.R498L|DMD_uc004dcn.1_Missense_Mutation_p.R485L|DMD_uc004dco.1_Missense_Mutation_p.R498L|DMD_uc004dcp.1_Missense_Mutation_p.R485L|DMD_uc011mkb.1_Missense_Mutation_p.R388L	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3566					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R1106H(1)		ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.886364	135.957484	142.444122	39	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31165492	31165492	4760	23	C	A	A	A	247	19	DMD	1	1
ZCCHC5	203430	broad.mit.edu	37	X	77913915	77913915	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77913915C>A	uc004edc.1	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	1							nucleic acid binding|zinc ion binding			ovary(1)	1														1	56.353076	56.353045	15	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77913915	77913915	18179	23	C	A	A	A	273	21	ZCCHC5	2	2
FAM133A	286499	broad.mit.edu	37	X	92964468	92964468	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:92964468C>A	uc004efr.1	+	c.50C>A	c.(49-51)GCC>GAC	p.A17D		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	17											0														0.684211	39.778287	40.350721	13	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92964468	92964468	5640	23	C	A	A	A	338	26	FAM133A	2	2
DYNC2H1	79659	broad.mit.edu	37	11	103055733	103055734	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103055733_103055734insT	uc001phn.1	+	c.6586_6587insT	c.(6586-6588)CTTfs	p.L2196fs	DYNC2H1_uc001pho.2_Frame_Shift_Ins_p.L2196fs|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2196					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)										0.38			33	53		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	103055733	103055734	5032	11	-	T	T	T	260	20	DYNC2H1	5	5
TMEM117	84216	broad.mit.edu	37	12	44781918	44781918	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44781918_44781918delG	uc001rod.2	+	c.1008_1008delG	c.(1006-1008)CCGfs	p.P336fs	TMEM117_uc001roe.2_Frame_Shift_Del_p.P232fs|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	336						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)										0.37			30	51		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	44781918	44781918	16562	12	G	-	-	-	496	39	TMEM117	5	5
KRT16	3868	broad.mit.edu	37	17	39767729	39767729	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39767729_39767729delC	uc002hxg.3	-	c.639_639delG	c.(637-639)CGGfs	p.R213fs	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	213	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000307)												0.38			51	82		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	39767729	39767729	8768	17	C	-	-	-	327	26	KRT16	5	5
RNMT	8731	broad.mit.edu	37	18	13762059	13762059	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13762059_13762059delG	uc010dlk.2	+	c.1415_1415delG	c.(1414-1416)AGGfs	p.R472fs	RNMT_uc002ksl.1_3'UTR|RNMT_uc002ksm.1_3'UTR|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	Error:Variant_position_missing_in_O43148_after_alignment					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						GBM(29;474 594 19092 36647 41529)								0.57			4	3		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	13762059	13762059	13985	18	G	-	-	-	443	35	RNMT	5	5
COL5A3	50509	broad.mit.edu	37	19	10087234	10087235	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10087234_10087235insA	uc002mmq.1	-	c.3341_3342insT	c.(3340-3342)CCGfs	p.P1114fs		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1114	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.64			9	5		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	10087234	10087235	3836	19	-	A	A	A	288	23	COL5A3	5	5
LILRA4	23547	broad.mit.edu	37	19	54849465	54849465	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54849465_54849465delC	uc002qfj.2	-	c.397_397delG	c.(397-399)GTGfs	p.V133fs	LILRA4_uc002qfi.2_Frame_Shift_Del_p.V67fs	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	133	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane	receptor activity			central_nervous_system(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)										0.48			12	13		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	54849465	54849465	9113	19	C	-	-	-	234	18	LILRA4	5	5
MUC16	94025	broad.mit.edu	37	19	9059448	9059449	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9059448_9059449insT	uc002mkp.2	-	c.27997_27998insA	c.(27997-27999)ATCfs	p.I9333fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9335	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.80			65	16		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	9059448	9059449	10367	19	-	T	T	T	156	12	MUC16	5	5
KIF26B	55083	broad.mit.edu	37	1	245849625	245849626	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245849625_245849626delGC	uc001ibf.1	+	c.3340_3341delGC	c.(3340-3342)GCGfs	p.A1114fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.A732fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.A356fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1114					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)											0.57			29	22		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	245849625	245849626	8606	1	GC	-	-	-	546	42	KIF26B	5	5
TAF4	6874	broad.mit.edu	37	20	60578330	60578335	+	Splice_Site_Del	DEL	ACTACA	-	-			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60578330_60578335delACTACA	uc002ybs.2	-	c.2372_splice	c.e9-1	p.V791_splice		NM_003185	NP_003176			TBP-associated factor 4						interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|general RNA polymerase II transcription factor activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription initiation factor activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)											0.31			11	25		---	---	---	---	capture_indel		Splice_Site_Del	DEL	60578330	60578335	16047	20	ACTACA	-	-	-	130	10	TAF4	5	5
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	-	-			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195447912_195447914delTTC	uc010hzo.2	+	c.34_36delTTC	c.(34-36)TTCdel	p.F14del		NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	14					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)										0.50			3	3		---	---	---	---	capture_indel		In_Frame_Del	DEL	195447912	195447914	10370	3	TTC	-	-	-	832	64	MUC20	5	5
PCDHGA5	56110	broad.mit.edu	37	5	140744199	140744200	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-17-Z016-01	TCGA-17-Z016-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140744199_140744200delTG	uc003lju.1	+	c.302_303delTG	c.(301-303)CTGfs	p.L101fs	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Frame_Shift_Del_p.L101fs	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	101	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.44			22	28		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140744199	140744200	11977	5	TG	-	-	-	715	55	PCDHGA5	5	5
