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
C10orf76	79591	broad.mit.edu	37	10	103783277	103783277	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103783277G>C	uc009xwy.1	-	c.626C>G	c.(625-627)GCT>GGT	p.A209G		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	209						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)										0.325926	138.748848	142.380476	44	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103783277	103783277	1653	10	G	C	C	C	442	34	C10orf76	3	3
PNLIP	5406	broad.mit.edu	37	10	118313347	118313347	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118313347A>G	uc001lcm.2	+	c.568A>G	c.(568-570)ACA>GCA	p.T190A		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	190					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)	2				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)									0.485714	118.722637	118.735759	34	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118313347	118313347	12575	10	A	G	G	G	78	6	PNLIP	4	4
TACC2	10579	broad.mit.edu	37	10	123845207	123845207	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123845207G>A	uc001lfv.2	+	c.3192G>A	c.(3190-3192)GCG>GCA	p.A1064A	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.A1064A|TACC2_uc010qtv.1_Silent_p.A1064A	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1064						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.147541	12.784285	20.033557	9	52	KEEP	---	---	---	---	capture		Silent	SNP	123845207	123845207	16023	10	G	A	A	A	483	38	TACC2	1	1
C10orf90	118611	broad.mit.edu	37	10	128202476	128202476	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:128202476G>C	uc010qum.1	-	c.346C>G	c.(346-348)CAA>GAA	p.Q116E	C10orf90_uc001ljq.2_Missense_Mutation_p.Q19E|C10orf90_uc009yao.2_Missense_Mutation_p.Q116E|C10orf90_uc001ljs.1_De_novo_Start_OutOfFrame	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	19											0		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)										0.462963	284.614521	284.807844	75	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128202476	128202476	1660	10	G	C	C	C	585	45	C10orf90	3	3
KNDC1	85442	broad.mit.edu	37	10	135012104	135012104	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135012104G>T	uc001llz.1	+	c.2092G>T	c.(2092-2094)GAG>TAG	p.E698*	KNDC1_uc001lma.1_Nonsense_Mutation_p.E633*|KNDC1_uc001lmb.1_Nonsense_Mutation_p.E110*	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	698					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)										0.555556	15.475606	15.499754	5	4	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135012104	135012104	8740	10	G	T	T	T	533	41	KNDC1	5	2
ITGA8	8516	broad.mit.edu	37	10	15646309	15646309	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15646309G>A	uc001ioc.1	-	c.2016C>T	c.(2014-2016)CTC>CTT	p.L672L	ITGA8_uc010qcb.1_Silent_p.L657L	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	672	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.121212	19.69719	38.269813	16	116	KEEP	---	---	---	---	capture		Silent	SNP	15646309	15646309	8186	10	G	A	A	A	574	45	ITGA8	2	2
SPAG6	9576	broad.mit.edu	37	10	22700044	22700045	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22700044_22700045GG>AT	uc001iri.2	+	c.1399_1400GG>AT	c.(1399-1401)GGT>ATT	p.G467I	SPAG6_uc001irj.2_Intron|SPAG6_uc010qct.1_Missense_Mutation_p.G437I|SPAG6_uc009xkh.2_Missense_Mutation_p.G445I	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	467					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1														0.235294	57.546292	64.084286	24	78	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	22700044	22700045	15485	10	GG	AT	AT	AT	611	47	SPAG6	2	2
GPR158	57512	broad.mit.edu	37	10	25887278	25887278	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25887278G>T	uc001isj.2	+	c.2723G>T	c.(2722-2724)AGC>ATC	p.S908I	GPR158_uc001isk.2_Missense_Mutation_p.S283I	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	908	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.196078	106.718082	128.793489	50	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25887278	25887278	6938	10	G	T	T	T	442	34	GPR158	2	2
GPR158	57512	broad.mit.edu	37	10	25887972	25887972	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25887972C>A	uc001isj.2	+	c.3417C>A	c.(3415-3417)CAC>CAA	p.H1139Q	GPR158_uc001isk.2_Missense_Mutation_p.H514Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1139	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.302817	124.76975	129.69867	43	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25887972	25887972	6938	10	C	A	A	A	233	18	GPR158	2	2
MASTL	84930	broad.mit.edu	37	10	27456180	27456180	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27456180C>T	uc001itm.2	+	c.961C>T	c.(961-963)CCC>TCC	p.P321S	MASTL_uc001itl.2_Missense_Mutation_p.P321S|MASTL_uc009xkw.1_Missense_Mutation_p.P321S|MASTL_uc009xkx.1_Non-coding_Transcript	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	321	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|protein phosphorylation|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3									p.P321S(RERFLCAI-Tumor)	553				0.208955	66.970333	77.445891	28	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27456180	27456180	9712	10	C	T	T	T	390	30	MASTL	2	2
ZNF248	57209	broad.mit.edu	37	10	38120853	38120853	+	Nonsense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:38120853G>C	uc001izd.1	-	c.1430C>G	c.(1429-1431)TCA>TGA	p.S477*	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Nonsense_Mutation_p.S477*	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	477	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.344538	286.48122	291.559967	82	156	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38120853	38120853	18384	10	G	C	C	C	585	45	ZNF248	5	3
CHAT	1103	broad.mit.edu	37	10	50827905	50827906	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50827905_50827906CC>AA	uc001jhz.2	+	c.522_523CC>AA	c.(520-525)GGCCTC>GGAATC	p.L175I	CHAT_uc001jhv.1_Missense_Mutation_p.L57I|CHAT_uc001jhx.1_Missense_Mutation_p.L57I|CHAT_uc001jhy.1_Missense_Mutation_p.L57I|CHAT_uc001jia.2_Missense_Mutation_p.L57I|CHAT_uc010qgs.1_Missense_Mutation_p.L57I	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	175					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)									0.411765	20.72173	20.837335	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	50827905	50827906	3447	10	CC	AA	AA	AA	327	26	CHAT	2	2
FBXO18	84893	broad.mit.edu	37	10	5956140	5956140	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5956140G>T	uc001iit.2	+	c.1458_splice	c.e9-1	p.G486_splice	FBXO18_uc001iir.2_Splice_Site_SNP_p.G361_splice|FBXO18_uc001iis.2_Splice_Site_SNP_p.G435_splice|FBXO18_uc009xig.2_Splice_Site_SNP_p.G361_splice	NM_032807	NP_116196			F-box only protein, helicase, 18 isoform 1						DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3														0.242009	127.162355	140.461077	53	166	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	5956140	5956140	5968	10	G	T	T	T	442	34	FBXO18	5	2
PHYHIPL	84457	broad.mit.edu	37	10	60994099	60994099	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:60994099G>T	uc001jkk.3	+	c.142G>T	c.(142-144)GAA>TAA	p.E48*	PHYHIPL_uc001jkl.3_Nonsense_Mutation_p.E2*|PHYHIPL_uc001jkm.3_Nonsense_Mutation_p.E22*	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	48											0														0.267442	57.785739	61.98645	23	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60994099	60994099	12291	10	G	T	T	T	533	41	PHYHIPL	5	2
NUDT13	25961	broad.mit.edu	37	10	74882005	74882005	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:74882005C>G	uc001jtj.2	+	c.296C>G	c.(295-297)TCT>TGT	p.S99C	NUDT13_uc010qkc.1_5'UTR|NUDT13_uc010qkd.1_5'UTR|NUDT13_uc009xqw.2_Non-coding_Transcript|NUDT13_uc001jtk.2_Missense_Mutation_p.S99C|NUDT13_uc010qke.1_5'UTR|NUDT13_uc001jtl.2_Missense_Mutation_p.S99C	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	99							hydrolase activity|metal ion binding				0	Prostate(51;0.0119)													0.205357	130.323277	148.358427	46	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74882005	74882005	11134	10	C	G	G	G	416	32	NUDT13	3	3
C10orf11	83938	broad.mit.edu	37	10	78316967	78316967	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78316967G>T	uc001jxi.2	+	c.518G>T	c.(517-519)GGT>GTT	p.G173V		NM_032024	NP_114413	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	173											0	Prostate(51;0.0095)|all_epithelial(25;0.0221)													0.463768	96.909416	96.986076	32	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78316967	78316967	1617	10	G	T	T	T	572	44	C10orf11	2	2
FAM35A	54537	broad.mit.edu	37	10	88911171	88911171	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88911171C>T	uc001kei.3	+	c.60C>T	c.(58-60)ATC>ATT	p.I20I		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	hypothetical protein LOC54537	20										ovary(2)	2						Ovarian(175;703 2004 25460 32514 43441)								0.114035	15.185552	31.938114	13	101	KEEP	---	---	---	---	capture		Silent	SNP	88911171	88911171	5773	10	C	T	T	T	369	29	FAM35A	2	2
KIAA1377	57562	broad.mit.edu	37	11	101786111	101786111	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101786111G>C	uc001pgm.2	+	c.96G>C	c.(94-96)GAG>GAC	p.E32D	ANGPTL5_uc001pgl.2_Intron	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	32							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)										0.207407	72.794923	83.544171	28	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101786111	101786111	8536	11	G	C	C	C	425	33	KIAA1377	3	3
MUC6	4588	broad.mit.edu	37	11	1026437	1026437	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1026437G>T	uc001lsw.2	-	c.2436C>A	c.(2434-2436)GGC>GGA	p.G812G		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	812					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.380952	22.794953	23.05599	8	13	KEEP	---	---	---	---	capture		Silent	SNP	1026437	1026437	10374	11	G	T	T	T	535	42	MUC6	2	2
MMP12	4321	broad.mit.edu	37	11	102742386	102742386	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102742386C>G	uc001phk.2	-	c.563G>C	c.(562-564)GGA>GCA	p.G188A		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	188					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)									0.285714	13.594329	14.171058	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102742386	102742386	10041	11	C	G	G	G	390	30	MMP12	3	3
DDX10	1662	broad.mit.edu	37	11	108709290	108709290	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108709290G>T	uc001pkm.2	+	c.2083G>T	c.(2083-2085)GAG>TAG	p.E695*	DDX10_uc001pkl.1_Nonsense_Mutation_p.E695*	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	695							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)	2		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)						268				0.150183	64.792808	96.824764	41	232	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108709290	108709290	4513	11	G	T	T	T	533	41	DDX10	5	2
BCO2	83875	broad.mit.edu	37	11	112065407	112065407	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:112065407G>T	uc001pnf.2	+	c.665G>T	c.(664-666)GGA>GTA	p.G222V	BCO2_uc001pne.1_Missense_Mutation_p.G49V|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.G188V|BCO2_uc010rwt.1_Missense_Mutation_p.G117V|BCO2_uc009yyn.2_Missense_Mutation_p.G188V|BCO2_uc001pni.2_Missense_Mutation_p.G188V	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	222					carotene metabolic process|oxidation-reduction process|retinal metabolic process|retinoic acid metabolic process	intracellular	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GBM(177;1916 2099 21049 29541 39946)								0.147436	37.430608	56.048565	23	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112065407	112065407	1406	11	G	T	T	T	533	41	BCO2	2	2
USP28	57646	broad.mit.edu	37	11	113675615	113675615	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113675615C>A	uc001poh.2	-	c.2554G>T	c.(2554-2556)GAT>TAT	p.D852Y	USP28_uc001pog.2_Missense_Mutation_p.D528Y|USP28_uc010rwy.1_Missense_Mutation_p.D695Y|USP28_uc001poi.2_Missense_Mutation_p.D175Y	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	852					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|ovary(1)|large_intestine(1)|kidney(1)	5		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)								0.220339	59.982157	68.483326	26	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113675615	113675615	17622	11	C	A	A	A	416	32	USP28	2	2
MLL	4297	broad.mit.edu	37	11	118376994	118376994	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118376994G>C	uc001ptb.2	+	c.10387G>C	c.(10387-10389)GCC>CCC	p.A3463P	MLL_uc001pta.2_Missense_Mutation_p.A3460P	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3460					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)						723				0.1875	70.136943	83.305478	27	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118376994	118376994	10010	11	G	C	C	C	598	46	MLL	3	3
BCL9L	283149	broad.mit.edu	37	11	118769541	118769541	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118769541G>A	uc001pug.2	-	c.4083C>T	c.(4081-4083)AAC>AAT	p.N1361N	BCL9L_uc009zal.2_Silent_p.N1356N	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1361	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)										0.157895	21.15526	29.635193	12	64	KEEP	---	---	---	---	capture		Silent	SNP	118769541	118769541	1403	11	G	A	A	A	568	44	BCL9L	2	2
ABCG4	64137	broad.mit.edu	37	11	119020801	119020801	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119020801C>A	uc001pvs.2	+	c.126C>A	c.(124-126)AAC>AAA	p.N42K	ABCG4_uc009zar.2_Missense_Mutation_p.N42K	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	42	Cytoplasmic (Potential).				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.28	58.142126	61.406437	21	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119020801	119020801	71	11	C	A	A	A	233	18	ABCG4	2	2
SORL1	6653	broad.mit.edu	37	11	121391515	121391515	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121391515A>T	uc001pxx.2	+	c.1361A>T	c.(1360-1362)CAG>CTG	p.Q454L		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	454	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)						937				0.242991	70.595103	77.039361	26	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121391515	121391515	15434	11	A	T	T	T	91	7	SORL1	3	3
OR8D2	283160	broad.mit.edu	37	11	124189176	124189176	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124189176C>A	uc010sah.1	-	c.918G>T	c.(916-918)AGG>AGT	p.R306S		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)										0.13125	31.004423	52.120271	21	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124189176	124189176	11643	11	C	A	A	A	285	22	OR8D2	2	2
OR8A1	390275	broad.mit.edu	37	11	124440496	124440496	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124440496G>T	uc010san.1	+	c.532G>T	c.(532-534)GGC>TGC	p.G178C		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)										0.105769	9.152442	25.20931	11	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124440496	124440496	11636	11	G	T	T	T	611	47	OR8A1	2	2
CDON	50937	broad.mit.edu	37	11	125891246	125891246	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125891246C>A	uc009zbw.2	-	c.246G>T	c.(244-246)CTG>CTT	p.L82L	CDON_uc001qdc.3_Silent_p.L82L|CDON_uc001qdd.3_Non-coding_Transcript|CDON_uc009zbx.2_Silent_p.L82L	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	82	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)										0.218391	43.673951	50.035814	19	68	KEEP	---	---	---	---	capture		Silent	SNP	125891246	125891246	3299	11	C	A	A	A	366	29	CDON	2	2
MUC5B	727897	broad.mit.edu	37	11	1262982	1262982	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1262982C>A	uc009ycr.1	+	c.6951C>A	c.(6949-6951)ACC>ACA	p.T2317T	MUC5B_uc001ltb.2_Silent_p.T1627T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1624	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.461538	18.048441	18.065211	6	7	KEEP	---	---	---	---	capture		Silent	SNP	1262982	1262982	10373	11	C	A	A	A	275	22	MUC5B	2	2
MUC5B	727897	broad.mit.edu	37	11	1272848	1272848	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1272848T>A	uc009ycr.1	+	c.15704T>A	c.(15703-15705)CTG>CAG	p.L5235Q	MUC5B_uc001ltb.2_Missense_Mutation_p.L4916Q	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4913	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.310345	25.764689	26.693618	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1272848	1272848	10373	11	T	A	A	A	715	55	MUC5B	3	3
MUC5B	727897	broad.mit.edu	37	11	1279598	1279598	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1279598G>T	uc009ycr.1	+	c.17604_splice	c.e65+1	p.G5868_splice	MUC5B_uc001ltb.2_Splice_Site_SNP_p.G5534_splice	NM_017511	NP_059981			SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.171429	11.927069	15.500273	6	29	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	1279598	1279598	10373	11	G	T	T	T	572	44	MUC5B	5	2
NTM	50863	broad.mit.edu	37	11	132184465	132184465	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132184465G>T	uc010sci.1	+	c.802G>T	c.(802-804)GGG>TGG	p.G268W	NTM_uc001qgm.2_Missense_Mutation_p.G268W|NTM_uc010sch.1_Missense_Mutation_p.G259W|NTM_uc010scj.1_Missense_Mutation_p.G227W|NTM_uc001qgo.2_Missense_Mutation_p.G268W|NTM_uc001qgq.2_Missense_Mutation_p.G268W|NTM_uc001qgp.2_Missense_Mutation_p.G268W|NTM_uc001qgr.2_Missense_Mutation_p.G50W	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	268	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5														0.144068	29.895797	44.287769	17	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132184465	132184465	11104	11	G	T	T	T	455	35	NTM	2	2
MRGPRX4	117196	broad.mit.edu	37	11	18194960	18194960	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18194960G>C	uc001mnv.1	+	c.157G>C	c.(157-159)GGC>CGC	p.G53R		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	53	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0														0.421384	181.830254	182.699931	67	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18194960	18194960	10162	11	G	C	C	C	559	43	MRGPRX4	3	3
ANO5	203859	broad.mit.edu	37	11	22296152	22296152	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22296152G>T	uc001mqi.2	+	c.2273G>T	c.(2272-2274)CGT>CTT	p.R758L	ANO5_uc001mqj.2_Missense_Mutation_p.R757L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	758	Extracellular (Potential).		R -> C (in MMD3).			chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.366667	282.048278	285.795186	88	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22296152	22296152	708	11	G	T	T	T	520	40	ANO5	1	1
ATHL1	80162	broad.mit.edu	37	11	294668	294668	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:294668C>G	uc010qvu.1	+	c.2133C>G	c.(2131-2133)GAC>GAG	p.D711E	ATHL1_uc001lor.3_Missense_Mutation_p.D463E|ATHL1_uc001lou.3_Missense_Mutation_p.D286E|ATHL1_uc001lov.3_Missense_Mutation_p.D172E	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	711					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)										0.131944	73.825309	111.670896	38	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	294668	294668	1123	11	C	G	G	G	233	18	ATHL1	3	3
MPPED2	744	broad.mit.edu	37	11	30439175	30439175	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30439175G>T	uc001msr.2	-	c.542C>A	c.(541-543)CCG>CAG	p.P181Q	MPPED2_uc001msq.3_Missense_Mutation_p.P181Q|MPPED2_uc009yji.2_Missense_Mutation_p.P55Q	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	181					nervous system development		hydrolase activity|metal ion binding			skin(1)	1										119				0.35	64.956941	66.148086	21	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30439175	30439175	10134	11	G	T	T	T	507	39	MPPED2	1	1
CCDC73	493860	broad.mit.edu	37	11	32634980	32634980	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32634980C>T	uc001mtv.2	-	c.2884G>A	c.(2884-2886)GAT>AAT	p.D962N		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	962										ovary(1)	1	Breast(20;0.112)													0.382775	233.378993	235.9206	80	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32634980	32634980	2969	11	C	T	T	T	390	30	CCDC73	2	2
RAG1	5896	broad.mit.edu	37	11	36596358	36596358	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36596358C>T	uc001mwu.3	+	c.1504C>T	c.(1504-1506)CCT>TCT	p.P502S	RAG1_uc001mwt.2_Non-coding_Transcript	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	502					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4	all_lung(20;0.226)	all_hematologic(20;0.107)				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)				117				0.372624	281.083604	284.830506	98	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36596358	36596358	13463	11	C	T	T	T	338	26	RAG1	2	2
RAG2	5897	broad.mit.edu	37	11	36615026	36615026	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36615026G>T	uc001mwv.3	-	c.693C>A	c.(691-693)GCC>GCA	p.A231A	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	231					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_lung(20;0.226)	all_hematologic(20;0.00756)												0.156028	41.964062	57.886657	22	119	KEEP	---	---	---	---	capture		Silent	SNP	36615026	36615026	13465	11	G	T	T	T	600	47	RAG2	2	2
TTC17	55761	broad.mit.edu	37	11	43465039	43465039	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:43465039G>C	uc001mxi.2	+	c.2416G>C	c.(2416-2418)GGA>CGA	p.G806R	TTC17_uc001mxh.2_Missense_Mutation_p.G863R|TTC17_uc010rfj.1_Missense_Mutation_p.G806R|TTC17_uc001mxj.2_Missense_Mutation_p.G633R	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	806							binding			ovary(5)	5														0.283784	57.037617	60.148503	21	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43465039	43465039	17238	11	G	C	C	C	455	35	TTC17	3	3
C11orf40	143501	broad.mit.edu	37	11	4592738	4592738	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4592738G>T	uc010qyg.1	-	c.569C>A	c.(568-570)GCA>GAA	p.A190E		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	hypothetical protein LOC143501	190										ovary(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)										0.411765	21.321379	21.437132	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4592738	4592738	1678	11	G	T	T	T	598	46	C11orf40	2	2
OR51V1	283111	broad.mit.edu	37	11	5221702	5221702	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221702G>C	uc010qyz.1	-	c.229C>G	c.(229-231)CTC>GTC	p.L77V		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.392405	94.90987	95.709904	31	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5221702	5221702	11517	11	G	C	C	C	455	35	OR51V1	3	3
OR4A15	81328	broad.mit.edu	37	11	55135609	55135609	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135609G>T	uc010rif.1	+	c.250G>T	c.(250-252)GGT>TGT	p.G84C		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	84	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.314433	155.438813	161.366635	61	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135609	55135609	11446	11	G	T	T	T	559	43	OR4A15	2	2
OR10AG1	282770	broad.mit.edu	37	11	55735551	55735551	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55735551T>A	uc010rit.1	-	c.389A>T	c.(388-390)AAA>ATA	p.K130I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.0137)													0.346939	92.115281	94.144349	34	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55735551	55735551	11303	11	T	A	A	A	832	64	OR10AG1	3	3
OR8J3	81168	broad.mit.edu	37	11	55904311	55904311	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55904311T>C	uc010riz.1	-	c.884A>G	c.(883-885)AAT>AGT	p.N295S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00693)													0.177215	67.35571	82.945381	28	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55904311	55904311	11653	11	T	C	C	C	676	52	OR8J3	4	4
OR8K3	219473	broad.mit.edu	37	11	56085806	56085806	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56085806G>T	uc010rjf.1	+	c.24G>T	c.(22-24)ACG>ACT	p.T8T		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)													0.153061	60.728845	83.290963	30	166	KEEP	---	---	---	---	capture		Silent	SNP	56085806	56085806	11655	11	G	T	T	T	496	39	OR8K3	1	1
OR5M3	219482	broad.mit.edu	37	11	56237377	56237377	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56237377T>A	uc010rjk.1	-	c.597A>T	c.(595-597)ATA>ATT	p.I199I		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.173913	81.165543	104.24555	40	190	KEEP	---	---	---	---	capture		Silent	SNP	56237377	56237377	11585	11	T	A	A	A	732	57	OR5M3	3	3
OR5M8	219484	broad.mit.edu	37	11	56258337	56258337	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56258337G>T	uc001nix.1	-	c.510C>A	c.(508-510)CCC>CCA	p.P170P		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)													0.153846	32.363332	45.784193	18	99	KEEP	---	---	---	---	capture		Silent	SNP	56258337	56258337	11586	11	G	T	T	T	600	47	OR5M8	2	2
OR5M10	390167	broad.mit.edu	37	11	56344905	56344905	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56344905A>T	uc001niz.1	-	c.293T>A	c.(292-294)TTC>TAC	p.F98Y		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.15873	34.216927	48.206643	20	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56344905	56344905	11583	11	A	T	T	T	117	9	OR5M10	3	3
OR5AR1	219493	broad.mit.edu	37	11	56431719	56431719	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56431719C>A	uc010rjm.1	+	c.558C>A	c.(556-558)GCC>GCA	p.A186A		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.278027	155.840632	165.736559	62	161	KEEP	---	---	---	---	capture		Silent	SNP	56431719	56431719	11555	11	C	A	A	A	275	22	OR5AR1	2	2
SLC22A11	55867	broad.mit.edu	37	11	64331817	64331817	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64331817G>T	uc001oai.2	+	c.859G>T	c.(859-861)GGC>TGC	p.G287C	SLC22A11_uc001oah.1_Intron|SLC22A11_uc001oaj.2_Missense_Mutation_p.G287C|SLC22A11_uc009ypq.2_Missense_Mutation_p.G287C|SLC22A11_uc001oak.1_Missense_Mutation_p.G116C	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	287	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)									0.203704	20.48915	24.899972	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64331817	64331817	14938	11	G	T	T	T	559	43	SLC22A11	2	2
SF1	7536	broad.mit.edu	37	11	64536732	64536732	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64536732C>T	uc001oaz.1	-	c.1117G>A	c.(1117-1119)GCT>ACT	p.A373T	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.A222T|SF1_uc001oba.1_Missense_Mutation_p.A248T|SF1_uc001obb.1_Missense_Mutation_p.A248T|SF1_uc001obc.1_Missense_Mutation_p.A248T|SF1_uc001obd.1_Missense_Mutation_p.A248T|SF1_uc001obe.1_Missense_Mutation_p.A133T|SF1_uc010rno.1_Missense_Mutation_p.A133T	NM_201998	NP_973727	Q15637	SF01_HUMAN	splicing factor 1 isoform 3	248					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3														0.189189	41.633649	51.650024	21	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64536732	64536732	14634	11	C	T	T	T	338	26	SF1	2	2
POLA2	23649	broad.mit.edu	37	11	65048471	65048471	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65048471C>T	uc001odj.2	+	c.753C>T	c.(751-753)GTC>GTT	p.V251V	POLA2_uc010rod.1_Silent_p.V43V|POLA2_uc001odk.2_5'UTR	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	251					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)									0.264463	81.539054	87.611492	32	89	KEEP	---	---	---	---	capture		Silent	SNP	65048471	65048471	12616	11	C	T	T	T	366	29	POLA2	2	2
CTSF	8722	broad.mit.edu	37	11	66333189	66333189	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66333189C>A	uc001oip.2	-	c.998G>T	c.(997-999)TGC>TTC	p.C333F		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	333					proteolysis	lysosome	cysteine-type endopeptidase activity				0														0.176744	76.113565	97.289244	38	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66333189	66333189	4193	11	C	A	A	A	325	25	CTSF	2	2
DCHS1	8642	broad.mit.edu	37	11	6651357	6651357	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6651357C>T	uc001mem.1	-	c.4668G>A	c.(4666-4668)GAG>GAA	p.E1556E		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1556	Cadherin 15.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.692308	30.879314	31.307601	9	4	KEEP	---	---	---	---	capture		Silent	SNP	6651357	6651357	4458	11	C	T	T	T	311	24	DCHS1	2	2
DCHS1	8642	broad.mit.edu	37	11	6662213	6662213	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6662213C>A	uc001mem.1	-	c.632G>T	c.(631-633)GGG>GTG	p.G211V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	211	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.187135	65.751554	81.390271	32	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6662213	6662213	4458	11	C	A	A	A	286	22	DCHS1	2	2
ADRBK1	156	broad.mit.edu	37	11	67051244	67051244	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67051244G>T	uc009yrn.1	+	c.1395G>T	c.(1393-1395)AAG>AAT	p.K465N	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	465	AGC-kinase C-terminal.			K -> R (in Ref. 1; CAA43470).	activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)					329				0.2	28.835056	34.27922	13	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67051244	67051244	344	11	G	T	T	T	451	35	ADRBK1	2	2
NADSYN1	55191	broad.mit.edu	37	11	71208569	71208569	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71208569G>T	uc001oqn.2	+	c.1805G>T	c.(1804-1806)GGG>GTG	p.G602V	NADSYN1_uc001oqo.2_Missense_Mutation_p.G342V|NADSYN1_uc001oqp.2_Missense_Mutation_p.G231V	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	602	Ligase (By similarity).				NAD biosynthetic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Ovarian(79;763 1781 6490 50276)								0.150685	17.88563	26.415467	11	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71208569	71208569	10534	11	G	T	T	T	559	43	NADSYN1	2	2
LRRC32	2615	broad.mit.edu	37	11	76376990	76376990	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76376990G>T	uc001oxq.3	-	c.9C>A	c.(7-9)CCC>CCA	p.P3P	LRRC32_uc001oxr.3_Silent_p.P3P|LRRC32_uc010rsf.1_Silent_p.P3P	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	3						integral to plasma membrane					0														0.192513	82.90485	99.403559	36	151	KEEP	---	---	---	---	capture		Silent	SNP	76376990	76376990	9362	11	G	T	T	T	548	43	LRRC32	2	2
MYO7A	4647	broad.mit.edu	37	11	76870504	76870504	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76870504G>C	uc001oyb.2	+	c.1015G>C	c.(1015-1017)GAA>CAA	p.E339Q	MYO7A_uc010rsl.1_Missense_Mutation_p.E339Q|MYO7A_uc010rsm.1_Missense_Mutation_p.E328Q|MYO7A_uc001oyc.2_Missense_Mutation_p.E339Q	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	339	Myosin head-like.				actin filament-based movement|equilibrioception|eye photoreceptor cell development|lysosome organization|response to stimulus|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4														0.222222	41.738265	46.193794	14	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76870504	76870504	10477	11	G	C	C	C	585	45	MYO7A	3	3
C11orf82	220042	broad.mit.edu	37	11	82643734	82643734	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82643734G>C	uc001ozt.2	+	c.1354G>C	c.(1354-1356)GAT>CAT	p.D452H	C11orf82_uc010rsr.1_Missense_Mutation_p.D151H|C11orf82_uc010rss.1_Missense_Mutation_p.D151H|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	452					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2														0.135593	33.219031	48.39999	16	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82643734	82643734	1704	11	G	C	C	C	585	45	C11orf82	3	3
FAT3	120114	broad.mit.edu	37	11	92620196	92620196	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92620196C>T	uc001pdj.3	+	c.12968C>T	c.(12967-12969)ACC>ATC	p.T4323I	FAT3_uc001pdi.3_Missense_Mutation_p.T763I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4323	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.315789	16.549856	17.119727	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92620196	92620196	5927	11	C	T	T	T	234	18	FAT3	2	2
WSCD2	9671	broad.mit.edu	37	12	108589971	108589971	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108589971G>T	uc001tms.2	+	c.362G>T	c.(361-363)CGG>CTG	p.R121L	WSCD2_uc001tmt.2_Missense_Mutation_p.R121L	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	121						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3														0.261905	29.504428	31.659614	11	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108589971	108589971	17981	12	G	T	T	T	507	39	WSCD2	1	1
TAS2R30	259293	broad.mit.edu	37	12	11286554	11286554	+	Nonsense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11286554C>T	uc009zhs.1	-	c.290G>A	c.(289-291)TGG>TAG	p.W97*	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_001097643	NP_001091112			type 2 taste receptor member 30												0														0.438356	198.167033	198.65258	64	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11286554	11286554	16095	12	C	T	T	T	273	21	TAS2R30	5	2
RPLP0	6175	broad.mit.edu	37	12	120636414	120636414	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120636414G>C	uc001txp.2	-	c.594C>G	c.(592-594)ATC>ATG	p.I198M	RPLP0_uc001txq.2_Missense_Mutation_p.I198M|RPLP0_uc001txr.2_Intron	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	198					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.205607	60.288577	68.88799	22	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120636414	120636414	14083	12	G	C	C	C	421	33	RPLP0	3	3
DNAH10	196385	broad.mit.edu	37	12	124293409	124293409	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124293409T>A	uc001uft.3	+	c.2699T>A	c.(2698-2700)CTG>CAG	p.L900Q	DNAH10_uc010tav.1_Missense_Mutation_p.L442Q|DNAH10_uc010taw.1_Missense_Mutation_p.L385Q	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	900	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)										0.166118	215.368252	279.683951	101	507	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124293409	124293409	4780	12	T	A	A	A	715	55	DNAH10	3	3
GOLGA3	2802	broad.mit.edu	37	12	133357453	133357453	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133357453C>T	uc001ukz.1	-	c.3513G>A	c.(3511-3513)AAG>AAA	p.K1171K	GOLGA3_uc001ula.1_Silent_p.K1171K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1171	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)										0.111111	15.850892	34.697537	14	112	KEEP	---	---	---	---	capture		Silent	SNP	133357453	133357453	6823	12	C	T	T	T	363	28	GOLGA3	2	2
ITPR2	3709	broad.mit.edu	37	12	26839527	26839527	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26839527C>A	uc001rhg.2	-	c.1035G>T	c.(1033-1035)CAG>CAT	p.Q345H		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	345	Cytoplasmic (Potential).|MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.314024	286.881092	296.990514	103	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26839527	26839527	8225	12	C	A	A	A	311	24	ITPR2	2	2
CACNA1C	775	broad.mit.edu	37	12	2760919	2760919	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2760919C>A	uc009zdu.1	+	c.4203C>A	c.(4201-4203)TTC>TTA	p.F1401L	CACNA1C_uc009zdv.1_Missense_Mutation_p.F1350L|CACNA1C_uc001qkb.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qkc.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qke.2_Missense_Mutation_p.F1342L|CACNA1C_uc001qkf.2_Missense_Mutation_p.F1342L|CACNA1C_uc001qjz.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qkd.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qkg.2_Missense_Mutation_p.F1340L|CACNA1C_uc009zdw.1_Missense_Mutation_p.F1375L|CACNA1C_uc001qkh.2_Missense_Mutation_p.F1342L|CACNA1C_uc001qkl.2_Missense_Mutation_p.F1401L|CACNA1C_uc001qkn.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qko.2_Missense_Mutation_p.F1373L|CACNA1C_uc001qkp.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qkr.2_Missense_Mutation_p.F1370L|CACNA1C_uc001qku.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qkq.2_Missense_Mutation_p.F1381L|CACNA1C_uc001qks.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qkt.2_Missense_Mutation_p.F1353L|CACNA1C_uc001qki.1_Missense_Mutation_p.F1089L|CACNA1C_uc001qkj.1_Missense_Mutation_p.F1089L|CACNA1C_uc001qkk.1_Missense_Mutation_p.F1089L|CACNA1C_uc001qkm.1_Missense_Mutation_p.F1078L|CACNA1C_uc010sea.1_Missense_Mutation_p.F44L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1401	IV.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.458333	33.621862	33.658235	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2760919	2760919	2656	12	C	A	A	A	376	29	CACNA1C	2	2
TMTC1	83857	broad.mit.edu	37	12	29665010	29665010	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29665010G>T	uc001rjb.2	-	c.2150C>A	c.(2149-2151)GCC>GAC	p.A717D	TMTC1_uc001riz.2_Missense_Mutation_p.A474D|TMTC1_uc001rja.2_Missense_Mutation_p.A561D|TMTC1_uc001riy.2_Missense_Mutation_p.A170D	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	717	TPR 10.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.135314	61.558716	100.451403	41	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29665010	29665010	16801	12	G	T	T	T	546	42	TMTC1	2	2
TMTC1	83857	broad.mit.edu	37	12	29736464	29736464	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29736464A>T	uc001rjb.2	-	c.970T>A	c.(970-972)TGC>AGC	p.C324S	TMTC1_uc001riz.2_Missense_Mutation_p.C81S|TMTC1_uc001rja.2_Missense_Mutation_p.C168S|TMTC1_uc001rjc.1_Missense_Mutation_p.C386S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	324						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.382353	78.031207	78.857456	26	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29736464	29736464	16801	12	A	T	T	T	91	7	TMTC1	3	3
SYT10	341359	broad.mit.edu	37	12	33529782	33529782	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33529782G>T	uc001rll.1	-	c.1555C>A	c.(1555-1557)CCA>ACA	p.P519T	SYT10_uc009zju.1_Missense_Mutation_p.P329T	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	519	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.11	11.657388	26.71379	11	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33529782	33529782	15987	12	G	T	T	T	572	44	SYT10	2	2
NELL2	4753	broad.mit.edu	37	12	45001031	45001031	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45001031G>T	uc010skz.1	-	c.1734C>A	c.(1732-1734)GGC>GGA	p.G578G	NELL2_uc001rof.3_Silent_p.G527G|NELL2_uc001rog.2_Silent_p.G528G|NELL2_uc001roh.2_Silent_p.G528G|NELL2_uc009zkd.2_Silent_p.G527G|NELL2_uc010sla.1_Silent_p.G551G|NELL2_uc001roi.1_Silent_p.G528G|NELL2_uc010slb.1_Silent_p.G527G	NM_001145107	NP_001138579	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform a	528	EGF-like 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			central_nervous_system(1)	1	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)										0.260274	50.69621	54.491238	19	54	KEEP	---	---	---	---	capture		Silent	SNP	45001031	45001031	10733	12	G	T	T	T	431	34	NELL2	2	2
MCRS1	10445	broad.mit.edu	37	12	49959936	49959936	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49959936C>G	uc001rui.1	-	c.112G>C	c.(112-114)GAG>CAG	p.E38Q	MCRS1_uc001ruj.1_Missense_Mutation_p.E12Q|MCRS1_uc001ruk.1_Missense_Mutation_p.E25Q|MCRS1_uc001rul.1_Missense_Mutation_p.E25Q|MCRS1_uc009zlj.1_Intron|MCRS1_uc001rum.1_Missense_Mutation_p.E12Q|MCRS1_uc001run.1_Missense_Mutation_p.E25Q	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 2	25	Ser-rich.				protein modification process	cytoplasm|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1														0.367647	83.356996	84.404309	25	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49959936	49959936	9788	12	C	G	G	G	377	29	MCRS1	3	3
PRPF40B	25766	broad.mit.edu	37	12	50037148	50037148	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50037148G>T	uc001rur.1	+	c.2285G>T	c.(2284-2286)CGG>CTG	p.R762L	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R783L|PRPF40B_uc001ruq.1_Missense_Mutation_p.R749L|PRPF40B_uc001rus.1_Missense_Mutation_p.R704L|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	762					mRNA processing|RNA splicing	nuclear speck				ovary(1)|kidney(1)|pancreas(1)	3														0.13	38.930986	65.556969	26	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50037148	50037148	13015	12	G	T	T	T	507	39	PRPF40B	1	1
SMARCD1	6602	broad.mit.edu	37	12	50490683	50490683	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50490683C>T	uc001rvx.3	+	c.1320C>T	c.(1318-1320)TTC>TTT	p.F440F	SMARCD1_uc001rvy.3_Intron|SMARCD1_uc009zlp.2_Silent_p.F399F	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	440	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2.|Potential.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1														0.307692	74.963373	77.964883	28	63	KEEP	---	---	---	---	capture		Silent	SNP	50490683	50490683	15275	12	C	T	T	T	376	29	SMARCD1	2	2
KRT73	319101	broad.mit.edu	37	12	53009975	53009975	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53009975C>A	uc001sas.2	-	c.637G>T	c.(637-639)GAA>TAA	p.E213*		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	213	Coil 1B.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.176871	50.153671	64.622007	26	121	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	53009975	53009975	8801	12	C	A	A	A	403	31	KRT73	5	1
OR6C76	390326	broad.mit.edu	37	12	55820133	55820133	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55820133G>T	uc010spm.1	+	c.96G>T	c.(94-96)ACG>ACT	p.T32T		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.260377	198.161806	211.930671	69	196	KEEP	---	---	---	---	capture		Silent	SNP	55820133	55820133	11610	12	G	T	T	T	509	40	OR6C76	1	1
AGAP2	116986	broad.mit.edu	37	12	58126629	58126629	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58126629C>T	uc001spq.2	-	c.1683G>A	c.(1681-1683)GAG>GAA	p.E561E	AGAP2_uc001spp.2_Silent_p.E561E|AGAP2_uc001spr.2_Silent_p.E225E	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	561	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5										257				0.14823	126.541835	180.224915	67	385	KEEP	---	---	---	---	capture		Silent	SNP	58126629	58126629	370	12	C	T	T	T	311	24	AGAP2	2	2
CHD4	1108	broad.mit.edu	37	12	6707148	6707148	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6707148C>A	uc001qpp.2	-	c.1795G>T	c.(1795-1797)GAC>TAC	p.D599Y	CHD4_uc001qpn.2_Missense_Mutation_p.D595Y|CHD4_uc001qpo.2_Missense_Mutation_p.D602Y	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	602					chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|zinc ion binding			central_nervous_system(2)	2						Colon(32;586 792 4568 16848 45314)								0.408551	483.28211	486.36698	172	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6707148	6707148	3461	12	C	A	A	A	390	30	CHD4	2	2
PTPRB	5787	broad.mit.edu	37	12	70989842	70989842	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70989842G>A	uc001swc.3	-	c.1245C>T	c.(1243-1245)ACC>ACT	p.T415T	PTPRB_uc001swb.3_Silent_p.T197T|PTPRB_uc010sto.1_Silent_p.T197T|PTPRB_uc010stp.1_Silent_p.T197T|PTPRB_uc001swa.3_Silent_p.T415T|PTPRB_uc001swd.3_Silent_p.T414T|PTPRB_uc009zrr.1_Silent_p.T294T|PTPRB_uc001swe.2_Silent_p.T415T	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	197	Fibronectin type-III 2.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.232558	24.426229	27.243675	10	33	KEEP	---	---	---	---	capture		Silent	SNP	70989842	70989842	13253	12	G	A	A	A	600	47	PTPRB	2	2
PTPRR	5801	broad.mit.edu	37	12	71054789	71054789	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71054789T>A	uc001swi.1	-	c.1697A>T	c.(1696-1698)CAG>CTG	p.Q566L	PTPRR_uc001swf.1_Non-coding_Transcript|PTPRR_uc001swg.1_Non-coding_Transcript|PTPRR_uc001swh.1_Missense_Mutation_p.Q321L|PTPRR_uc009zrs.2_Missense_Mutation_p.Q415L|PTPRR_uc010stq.1_Missense_Mutation_p.Q454L|PTPRR_uc010str.1_3'UTR	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	566	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)										0.237288	36.12006	39.841039	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71054789	71054789	13268	12	T	A	A	A	715	55	PTPRR	3	3
TRHDE	29953	broad.mit.edu	37	12	73046866	73046866	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:73046866G>T	uc001sxa.2	+	c.2779G>T	c.(2779-2781)GCT>TCT	p.A927S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	927	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.175573	47.965368	60.950109	23	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73046866	73046866	17023	12	G	T	T	T	442	34	TRHDE	2	2
CD163L1	283316	broad.mit.edu	37	12	7585988	7585988	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7585988C>A	uc010sge.1	-	c.427G>T	c.(427-429)GTT>TTT	p.V143F	CD163L1_uc001qsy.2_Missense_Mutation_p.V143F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	143	SRCR 1.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.352	137.360391	139.776227	44	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7585988	7585988	3095	12	C	A	A	A	221	17	CD163L1	2	2
CEP290	80184	broad.mit.edu	37	12	88454728	88454728	+	Missense_Mutation	SNP	A	G	G	rs117852025	by1000genomes	TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88454728A>G	uc001tar.2	-	c.6401T>C	c.(6400-6402)ATT>ACT	p.I2134T	CEP290_uc001taq.2_Missense_Mutation_p.I1194T	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	2134	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														0.384615	17.772557	17.924109	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88454728	88454728	3386	12	A	G	G	G	52	4	CEP290	4	4
CLLU1OS	574016	broad.mit.edu	37	12	92814926	92814926	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:92814926G>A	uc001tcb.1	-	c.166C>T	c.(166-168)CCA>TCA	p.P56S	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1	56											0														0.127119	38.9686	70.992483	30	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92814926	92814926	3679	12	G	A	A	A	533	41	CLLU1OS	2	2
EEA1	8411	broad.mit.edu	37	12	93213135	93213135	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:93213135C>A	uc001tck.2	-	c.1677G>T	c.(1675-1677)GAG>GAT	p.E559D		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	559	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)	2														0.118881	14.749119	35.223831	17	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93213135	93213135	5108	12	C	A	A	A	415	32	EEA1	2	2
C12orf63	374467	broad.mit.edu	37	12	97093849	97093849	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97093849A>C	uc001tet.1	+	c.1727A>C	c.(1726-1728)TAT>TCT	p.Y576S		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	576										ovary(1)	1														0.105528	30.738521	61.495702	21	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97093849	97093849	1750	12	A	C	C	C	208	16	C12orf63	4	4
APAF1	317	broad.mit.edu	37	12	99097167	99097167	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99097167A>T	uc001tfz.2	+	c.2485A>T	c.(2485-2487)AGT>TGT	p.S829C	APAF1_uc001tfy.2_Missense_Mutation_p.S818C|APAF1_uc001tga.2_Intron|APAF1_uc001tgb.2_Intron|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	829	WD 5.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)					519				0.16129	27.361626	37.524785	15	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99097167	99097167	765	12	A	T	T	T	195	15	APAF1	3	3
IRS2	8660	broad.mit.edu	37	13	110434665	110434665	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110434665C>A	uc001vqv.2	-	c.3736G>T	c.(3736-3738)GGC>TGC	p.G1246C		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1246					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	5	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			Melanoma(100;613 2409 40847)				156				0.533333	22.793618	22.807657	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110434665	110434665	8145	13	C	A	A	A	299	23	IRS2	1	1
COL4A2	1284	broad.mit.edu	37	13	111119407	111119407	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111119407G>C	uc001vqx.2	+	c.2059G>C	c.(2059-2061)GGA>CGA	p.G687R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	687	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.25	69.37297	75.31066	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111119407	111119407	3828	13	G	C	C	C	559	43	COL4A2	3	3
CDK8	1024	broad.mit.edu	37	13	26927935	26927935	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26927935G>T	uc001uqr.1	+	c.374G>T	c.(373-375)CGG>CTG	p.R125L	CDK8_uc001uqs.1_Missense_Mutation_p.R125L|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	125	Protein kinase.				protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)	4	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)						186				0.346667	81.230735	82.785844	26	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26927935	26927935	3279	13	G	T	T	T	507	39	CDK8	1	1
WASF3	10810	broad.mit.edu	37	13	27255391	27255391	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:27255391C>T	uc001uqv.2	+	c.917C>T	c.(916-918)CCC>CTC	p.P306L	WASF3_uc001uqw.2_Missense_Mutation_p.P303L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	306	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)										0.454545	59.688483	59.768338	20	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27255391	27255391	17826	13	C	T	T	T	286	22	WASF3	2	2
FLT1	2321	broad.mit.edu	37	13	29008254	29008254	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29008254G>T	uc001usb.3	-	c.617C>A	c.(616-618)ACC>AAC	p.T206N	FLT1_uc010aar.1_Missense_Mutation_p.T206N|FLT1_uc001usc.3_Missense_Mutation_p.T206N|FLT1_uc010tdp.1_Missense_Mutation_p.T206N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	206	Ig-like C2-type 2.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.419118	174.545902	175.323587	57	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29008254	29008254	6183	13	G	T	T	T	572	44	FLT1	2	2
FRY	10129	broad.mit.edu	37	13	32783856	32783856	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32783856T>A	uc001utx.2	+	c.4410T>A	c.(4408-4410)GTT>GTA	p.V1470V	FRY_uc010tdw.1_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)										0.460526	95.32019	95.421961	35	41	KEEP	---	---	---	---	capture		Silent	SNP	32783856	32783856	6313	13	T	A	A	A	795	62	FRY	3	3
AKAP11	11215	broad.mit.edu	37	13	42869852	42869852	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:42869852G>T	uc001uys.1	+	c.190G>T	c.(190-192)GAA>TAA	p.E64*		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	64					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)										0.304348	153.009679	159.306933	56	128	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42869852	42869852	450	13	G	T	T	T	585	45	AKAP11	5	2
LECT1	11061	broad.mit.edu	37	13	53307452	53307452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53307452G>A	uc001vhf.2	-	c.256C>T	c.(256-258)CAA>TAA	p.Q86*	LECT1_uc001vhg.2_Nonsense_Mutation_p.Q86*|LECT1_uc001vhh.2_Nonsense_Mutation_p.Q113*	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	86					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(1)	1		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)										0.338403	246.886661	252.96333	89	174	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	53307452	53307452	9036	13	G	A	A	A	624	48	LECT1	5	2
SLITRK6	84189	broad.mit.edu	37	13	86369960	86369960	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:86369960C>G	uc001vll.1	-	c.684G>C	c.(682-684)CAG>CAC	p.Q228H	SLITRK6_uc010afe.1_5'UTR	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	228	Extracellular (Potential).|LRRCT 1.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)										0.428571	201.857125	202.44865	57	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86369960	86369960	15245	13	C	G	G	G	259	20	SLITRK6	3	3
DOCK9	23348	broad.mit.edu	37	13	99452598	99452598	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99452598C>G	uc001vnt.2	-	c.5905G>C	c.(5905-5907)GCC>CCC	p.A1969P	DOCK9_uc001vnw.2_Missense_Mutation_p.A1968P|DOCK9_uc001vnq.2_Missense_Mutation_p.A516P|DOCK9_uc001vnr.2_Missense_Mutation_p.A598P|DOCK9_uc010tin.1_Missense_Mutation_p.A587P|DOCK9_uc001vns.2_Missense_Mutation_p.A504P|DOCK9_uc010tio.1_Missense_Mutation_p.A624P|DOCK9_uc010tip.1_Missense_Mutation_p.A665P	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1969	Potential.|DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.368421	23.920173	24.209306	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99452598	99452598	4878	13	C	G	G	G	338	26	DOCK9	3	3
DOCK9	23348	broad.mit.edu	37	13	99461650	99461650	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99461650G>T	uc001vnt.2	-	c.5326C>A	c.(5326-5328)CGC>AGC	p.R1776S	DOCK9_uc001vnw.2_Missense_Mutation_p.R1775S|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.R1753S|DOCK9_uc001vnq.2_Missense_Mutation_p.R325S|DOCK9_uc001vnr.2_Missense_Mutation_p.R419S|DOCK9_uc010tin.1_Missense_Mutation_p.R396S|DOCK9_uc001vns.2_Missense_Mutation_p.R325S|DOCK9_uc010tio.1_Missense_Mutation_p.R445S|DOCK9_uc010tip.1_Missense_Mutation_p.R486S|DOCK9_uc001vnu.1_Missense_Mutation_p.R325S|DOCK9_uc010tiq.1_Missense_Mutation_p.R731S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1776	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.244898	66.155859	71.961822	24	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99461650	99461650	4878	13	G	T	T	T	507	39	DOCK9	1	1
OR4M1	441670	broad.mit.edu	37	14	20248811	20248811	+	Silent	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20248811G>C	uc010tku.1	+	c.330G>C	c.(328-330)TCG>TCC	p.S110S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.118207	108.132284	213.549909	87	649	KEEP	---	---	---	---	capture		Silent	SNP	20248811	20248811	11485	14	G	C	C	C	496	39	OR4M1	3	3
OR4K5	79317	broad.mit.edu	37	14	20389218	20389218	+	Silent	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20389218G>C	uc010tkw.1	+	c.453G>C	c.(451-453)GTG>GTC	p.V151V		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.119734	192.550539	320.528997	108	794	KEEP	---	---	---	---	capture		Silent	SNP	20389218	20389218	11483	14	G	C	C	C	574	45	OR4K5	3	3
OR4K1	79544	broad.mit.edu	37	14	20404218	20404218	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20404218C>A	uc001vwj.1	+	c.393C>A	c.(391-393)CAC>CAA	p.H131Q		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.131926	84.287713	134.171692	50	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20404218	20404218	11477	14	C	A	A	A	259	20	OR4K1	2	2
OR11H4	390442	broad.mit.edu	37	14	20711254	20711254	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20711254A>T	uc010tld.1	+	c.304A>T	c.(304-306)ATC>TTC	p.I102F		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)										0.259091	162.904193	174.44835	57	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20711254	20711254	11334	14	A	T	T	T	104	8	OR11H4	3	3
MYH7	4625	broad.mit.edu	37	14	23884924	23884924	+	Missense_Mutation	SNP	C	A	A	rs45464193		TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23884924C>A	uc001wjx.2	-	c.5071G>T	c.(5071-5073)GTG>TTG	p.V1691L		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1691	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.151899	24.251714	33.413732	12	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23884924	23884924	10434	14	C	A	A	A	247	19	MYH7	1	1
NPAS3	64067	broad.mit.edu	37	14	33684503	33684503	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:33684503A>T	uc001wru.2	+	c.256A>T	c.(256-258)AGC>TGC	p.S86C	NPAS3_uc001wrs.2_Missense_Mutation_p.S56C|NPAS3_uc001wrt.2_Missense_Mutation_p.S56C|NPAS3_uc001wrv.2_Missense_Mutation_p.S56C|NPAS3_uc001wrw.2_5'UTR	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	86	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			ovary(1)	1	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)										0.341463	130.611444	133.343935	42	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33684503	33684503	10968	14	A	T	T	T	91	7	NPAS3	3	3
RALGAPA1	253959	broad.mit.edu	37	14	36154336	36154336	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:36154336C>A	uc001wtj.2	-	c.2575G>T	c.(2575-2577)GGA>TGA	p.G859*	RALGAPA1_uc001wti.2_Nonsense_Mutation_p.G859*|RALGAPA1_uc010tpv.1_Nonsense_Mutation_p.G872*|RALGAPA1_uc010tpw.1_Nonsense_Mutation_p.G906*|RALGAPA1_uc001wtk.1_Nonsense_Mutation_p.G757*	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	859					activation of Ral GTPase activity|signal transduction	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4														0.5	12.299488	12.299488	4	4	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36154336	36154336	13473	14	C	A	A	A	312	24	RALGAPA1	5	2
LRFN5	145581	broad.mit.edu	37	14	42360763	42360763	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42360763G>T	uc001wvm.2	+	c.1696G>T	c.(1696-1698)GTT>TTT	p.V566F	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	566	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)										0.20155	64.77562	75.453602	26	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42360763	42360763	9314	14	G	T	T	T	572	44	LRFN5	2	2
KCNH5	27133	broad.mit.edu	37	14	63246455	63246455	+	Silent	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63246455C>G	uc001xfx.2	-	c.2010G>C	c.(2008-2010)CTG>CTC	p.L670L	KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Silent_p.L612L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	670	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)										0.120253	36.005865	58.3554	19	139	KEEP	---	---	---	---	capture		Silent	SNP	63246455	63246455	8340	14	C	G	G	G	366	29	KCNH5	3	3
ZFYVE26	23503	broad.mit.edu	37	14	68222716	68222716	+	Silent	SNP	T	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68222716T>C	uc001xka.2	-	c.6735A>G	c.(6733-6735)TTA>TTG	p.L2245L	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.2_Silent_p.L91L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2245					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)										0.367589	643.65096	651.436946	186	320	KEEP	---	---	---	---	capture		Silent	SNP	68222716	68222716	18258	14	T	C	C	C	738	57	ZFYVE26	4	4
MLH3	27030	broad.mit.edu	37	14	75515236	75515236	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75515236C>T	uc001xrd.1	-	c.1123G>A	c.(1123-1125)GAT>AAT	p.D375N	MLH3_uc001xre.1_Missense_Mutation_p.D375N|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	375					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)										0.157143	17.587997	25.433769	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75515236	75515236	10008	14	C	T	T	T	377	29	MLH3	2	2
TMEM63C	57156	broad.mit.edu	37	14	77685276	77685276	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77685276C>A	uc001xtf.2	+	c.120C>A	c.(118-120)ACC>ACA	p.T40T	TMEM63C_uc010asq.1_Silent_p.T40T	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	40	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)										0.235294	11.092214	12.180883	4	13	KEEP	---	---	---	---	capture		Silent	SNP	77685276	77685276	16731	14	C	A	A	A	288	23	TMEM63C	1	1
TRIP11	9321	broad.mit.edu	37	14	92484063	92484063	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92484063T>A	uc001xzy.2	-	c.620A>T	c.(619-621)GAT>GTT	p.D207V	TRIP11_uc010auf.1_5'Flank	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	207	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|kidney(2)|central_nervous_system(1)|breast(1)|skin(1)	11				COAD - Colon adenocarcinoma(157;0.223)		Ovarian(84;609 1888 9852 42686)				1481				0.290323	52.128446	54.568803	18	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92484063	92484063	17105	14	T	A	A	A	650	50	TRIP11	3	3
MAGEL2	54551	broad.mit.edu	37	15	23890035	23890035	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23890035G>T	uc001ywj.3	-	c.1046C>A	c.(1045-1047)TCC>TAC	p.S349Y		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)										0.351351	35.297473	36.00355	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23890035	23890035	9572	15	G	T	T	T	533	41	MAGEL2	2	2
NDN	4692	broad.mit.edu	37	15	23932116	23932116	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23932116C>A	uc001ywk.2	-	c.249G>T	c.(247-249)CCG>CCT	p.P83P		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	83					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										0.625	33.452963	33.672348	10	6	KEEP	---	---	---	---	capture		Silent	SNP	23932116	23932116	10646	15	C	A	A	A	392	31	NDN	1	1
C15orf2	23742	broad.mit.edu	37	15	24921181	24921181	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921181G>T	uc001ywo.2	+	c.167G>T	c.(166-168)CGT>CTT	p.R56L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	56					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				0.428571	27.971881	28.065177	9	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24921181	24921181	1834	15	G	T	T	T	520	40	C15orf2	1	1
TJP1	7082	broad.mit.edu	37	15	30020222	30020222	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30020222C>A	uc010azl.2	-	c.1983G>T	c.(1981-1983)AAG>AAT	p.K661N	TJP1_uc001zcq.2_Missense_Mutation_p.K677N|TJP1_uc001zcr.2_Missense_Mutation_p.K673N|TJP1_uc001zcs.2_Missense_Mutation_p.K673N	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	673	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		Melanoma(77;681 1843 6309 6570)								0.349515	88.790827	90.883274	36	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30020222	30020222	16458	15	C	A	A	A	415	32	TJP1	2	2
TRPM1	4308	broad.mit.edu	37	15	31320613	31320613	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31320613C>A	uc001zfm.2	-	c.3149G>T	c.(3148-3150)TGG>TTG	p.W1050L	TRPM1_uc010azy.2_Missense_Mutation_p.W957L|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1050	Cytoplasmic (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)										0.349057	100.190305	102.299682	37	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31320613	31320613	17136	15	C	A	A	A	273	21	TRPM1	2	2
ACTC1	70	broad.mit.edu	37	15	35084612	35084612	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35084612T>A	uc001ziu.1	-	c.613A>T	c.(613-615)ACT>TCT	p.T205S		NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	205					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			ovary(1)	1		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)										0.211538	24.46396	28.511397	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35084612	35084612	196	15	T	A	A	A	767	59	ACTC1	3	3
MAP1A	4130	broad.mit.edu	37	15	43820739	43820739	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43820739T>A	uc001zrt.2	+	c.7068T>A	c.(7066-7068)GAT>GAA	p.D2356E		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2356						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)	8		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)									0.2	7.316856	8.572008	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43820739	43820739	9610	15	T	A	A	A	673	52	MAP1A	3	3
MYO5A	4644	broad.mit.edu	37	15	52664516	52664516	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52664516C>A	uc002aby.2	-	c.2622G>T	c.(2620-2622)CGG>CGT	p.R874R	MYO5A_uc002abx.3_Silent_p.R874R|MYO5A_uc010uge.1_Silent_p.R743R	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	874	IQ 5.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)										0.365854	43.918047	44.56522	15	26	KEEP	---	---	---	---	capture		Silent	SNP	52664516	52664516	10473	15	C	A	A	A	275	22	MYO5A	2	2
UNC13C	440279	broad.mit.edu	37	15	54919052	54919052	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54919052G>T	uc002ack.2	+	c.6386G>T	c.(6385-6387)GGG>GTG	p.G2129V	UNC13C_uc002acm.2_Missense_Mutation_p.G50V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2129	C2 2.				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				0.2	22.119626	26.306912	10	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54919052	54919052	17544	15	G	T	T	T	559	43	UNC13C	2	2
NEDD4	4734	broad.mit.edu	37	15	56142862	56142862	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:56142862C>A	uc002adj.2	-	c.2482G>T	c.(2482-2484)GGC>TGC	p.G828C	NEDD4_uc002adl.2_Missense_Mutation_p.G409C|NEDD4_uc002adi.2_Missense_Mutation_p.G756C|NEDD4_uc010ugj.1_Missense_Mutation_p.G812C|NEDD4_uc010bfm.2_Missense_Mutation_p.G811C|NEDD4_uc002adk.2_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	828	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)										0.438596	147.126538	147.502384	50	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56142862	56142862	10709	15	C	A	A	A	312	24	NEDD4	2	2
MAP2K1	5604	broad.mit.edu	37	15	66727454	66727454	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:66727454A>C	uc010bhq.2	+	c.170A>C	c.(169-171)AAG>ACG	p.K57T	MAP2K1_uc010ujp.1_Missense_Mutation_p.K35T	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0										667				0.362595	298.551844	302.905559	95	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66727454	66727454	9619	15	A	C	C	C	39	3	MAP2K1	4	4
C15orf59	388135	broad.mit.edu	37	15	74032524	74032524	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74032524C>A	uc002avy.2	-	c.616G>T	c.(616-618)GGT>TGT	p.G206C		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	206										pancreas(1)	1														0.388889	63.561876	64.146229	21	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74032524	74032524	1857	15	C	A	A	A	299	23	C15orf59	1	1
LINGO1	84894	broad.mit.edu	37	15	77907657	77907657	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:77907657G>A	uc002bct.1	-	c.592C>T	c.(592-594)CTG>TTG	p.L198L	LINGO1_uc002bcu.1_Silent_p.L192L	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	198	Extracellular (Potential).|LRR 6.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2														0.354839	93.953196	95.677742	33	60	KEEP	---	---	---	---	capture		Silent	SNP	77907657	77907657	9141	15	G	A	A	A	438	34	LINGO1	2	2
HDGFRP3	50810	broad.mit.edu	37	15	83820030	83820030	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83820030C>A	uc002bjs.1	-	c.543G>T	c.(541-543)GAG>GAT	p.E181D		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	hepatoma-derived growth factor, related protein	181					cell proliferation	nucleus	growth factor activity				0														0.410256	192.564762	193.663986	64	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83820030	83820030	7304	15	C	A	A	A	311	24	HDGFRP3	2	2
PDE8A	5151	broad.mit.edu	37	15	85657227	85657227	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85657227G>A	uc002blh.2	+	c.1309G>A	c.(1309-1311)GAT>AAT	p.D437N	PDE8A_uc002bli.2_Missense_Mutation_p.D391N|PDE8A_uc010bnc.2_Missense_Mutation_p.D190N|PDE8A_uc010bnd.2_Missense_Mutation_p.D190N|PDE8A_uc002blj.2_Missense_Mutation_p.D57N|PDE8A_uc002blk.2_Missense_Mutation_p.D57N	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	437					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)	3	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)											0.32	113.051296	116.652057	40	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85657227	85657227	12074	15	G	A	A	A	585	45	PDE8A	2	2
AGBL1	123624	broad.mit.edu	37	15	86807844	86807844	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86807844C>T	uc002blz.1	+	c.1304C>T	c.(1303-1305)TCC>TTC	p.S435F	AGBL1_uc002bma.1_Missense_Mutation_p.S166F|AGBL1_uc002bmb.1_Missense_Mutation_p.S129F	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	435					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.200957	89.348846	106.72147	42	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86807844	86807844	377	15	C	T	T	T	390	30	AGBL1	2	2
NTRK3	4916	broad.mit.edu	37	15	88476242	88476242	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88476242C>A	uc002bme.1	-	c.1889_splice	c.e15+1	p.R630_splice	NTRK3_uc002bmh.2_Splice_Site_SNP_p.R622_splice|NTRK3_uc002bmf.1_Splice_Site_SNP_p.R630_splice|NTRK3_uc010upl.1_Splice_Site_SNP_p.R532_splice|NTRK3_uc010bnh.1_Splice_Site_SNP_p.R622_splice	NM_001012338	NP_001012338			neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)							506	TSP Lung(13;0.10)			0.461538	59.446977	59.497149	18	21	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	88476242	88476242	11113	15	C	A	A	A	234	18	NTRK3	5	2
NTRK3	4916	broad.mit.edu	37	15	88576096	88576096	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88576096G>T	uc002bme.1	-	c.1577C>A	c.(1576-1578)CCG>CAG	p.P526Q	NTRK3_uc002bmh.2_Missense_Mutation_p.P518Q|NTRK3_uc002bmf.1_Missense_Mutation_p.P526Q|NTRK3_uc010upl.1_Missense_Mutation_p.P428Q|NTRK3_uc010bnh.1_Missense_Mutation_p.P518Q|NTRK3_uc002bmg.2_Missense_Mutation_p.P526Q|NTRK3_uc010bni.2_Non-coding_Transcript	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	526	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)							506	TSP Lung(13;0.10)			0.2	9.988786	11.662559	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88576096	88576096	11113	15	G	T	T	T	507	39	NTRK3	1	1
KIF7	374654	broad.mit.edu	37	15	90177050	90177050	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90177050C>T	uc002bof.2	-	c.2459G>A	c.(2458-2460)CGA>CAA	p.R820Q	KIF7_uc010upw.1_Missense_Mutation_p.R306Q	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	820	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)											0.292683	32.483466	34.061382	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90177050	90177050	8620	15	C	T	T	T	403	31	KIF7	1	1
TSC2	7249	broad.mit.edu	37	16	2130310	2130310	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2130310C>T	uc002con.2	+	c.3542C>T	c.(3541-3543)ACG>ATG	p.T1181M	TSC2_uc010bsd.2_Missense_Mutation_p.T1181M|TSC2_uc002coo.2_Missense_Mutation_p.T1137M|TSC2_uc010uvv.1_Missense_Mutation_p.T1101M|TSC2_uc010uvw.1_Missense_Mutation_p.T1089M|TSC2_uc002cop.2_Missense_Mutation_p.T937M|TSC2_uc002coq.2_5'Flank|TSC2_uc002cor.2_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	1181					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)								1098				0.143885	32.242489	49.187606	20	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2130310	2130310	17157	16	C	T	T	T	247	19	TSC2	1	1
PKD1	5310	broad.mit.edu	37	16	2158369	2158369	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2158369C>A	uc002cos.1	-	c.6799G>T	c.(6799-6801)GTG>TTG	p.V2267L	PKD1_uc002cot.1_Missense_Mutation_p.V2267L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2267	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(1)	1														0.3	81.508867	84.714302	27	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2158369	2158369	12387	16	C	A	A	A	247	19	PKD1	1	1
E4F1	1877	broad.mit.edu	37	16	2285496	2285496	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2285496G>A	uc002cpm.2	+	c.2278G>A	c.(2278-2280)GAG>AAG	p.E760K	E4F1_uc010bsi.2_3'UTR|E4F1_uc010bsj.2_Missense_Mutation_p.E583K|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	760					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth|regulation of transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1														0.210526	9.689575	11.162275	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2285496	2285496	5060	16	G	A	A	A	481	37	E4F1	1	1
HS3ST2	9956	broad.mit.edu	37	16	22926287	22926287	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22926287G>C	uc002dli.2	+	c.508G>C	c.(508-510)GAG>CAG	p.E170Q	HS3ST2_uc002dlj.2_Non-coding_Transcript	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	170	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)										0.121795	33.636998	55.472561	19	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22926287	22926287	7658	16	G	C	C	C	481	37	HS3ST2	3	3
PLK1	5347	broad.mit.edu	37	16	23695377	23695377	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23695377A>T	uc002dlz.1	+	c.1003A>T	c.(1003-1005)AGC>TGC	p.S335C		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)	1				GBM - Glioblastoma multiforme(48;0.0156)		Colon(12;240 564 27038 33155)			p.S335R(RI1-Tumor)	206				0.127551	36.037855	62.546696	25	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23695377	23695377	12520	16	A	T	T	T	91	7	PLK1	3	3
MAPK3	5595	broad.mit.edu	37	16	30129407	30129407	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30129407C>A	uc002dws.2	-	c.621G>T	c.(619-621)ACG>ACT	p.T207T	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Silent_p.T93T|MAPK3_uc002dwv.3_Silent_p.T207T|MAPK3_uc002dwt.2_Silent_p.T207T|MAPK3_uc002dwu.2_Non-coding_Transcript|MAPK3_uc010bzp.2_Non-coding_Transcript	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	207	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)					91				0.230769	22.053419	24.645559	9	30	KEEP	---	---	---	---	capture		Silent	SNP	30129407	30129407	9662	16	C	A	A	A	340	27	MAPK3	1	1
FBXL19	54620	broad.mit.edu	37	16	30937210	30937210	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30937210C>T	uc002eab.2	+	c.195C>T	c.(193-195)CCC>CCT	p.P65P	NCRNA00095_uc002dzy.2_5'Flank|FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Silent_p.P7P	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	65	CXXC-type.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.333333	9.722076	9.943443	3	6	KEEP	---	---	---	---	capture		Silent	SNP	30937210	30937210	5952	16	C	T	T	T	288	23	FBXL19	1	1
VKORC1	79001	broad.mit.edu	37	16	31105880	31105880	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31105880G>T	uc002eas.2	-	c.171C>A	c.(169-171)TCC>TCA	p.S57S	PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_Silent_p.S57S|VKORC1_uc002eau.2_Silent_p.S57S	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	57	Cytoplasmic (Potential).				oxidation-reduction process|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity				0					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)									0.458333	33.622019	33.658371	11	13	KEEP	---	---	---	---	capture		Silent	SNP	31105880	31105880	17739	16	G	T	T	T	600	47	VKORC1	2	2
ITGAM	3684	broad.mit.edu	37	16	31332582	31332582	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31332582C>T	uc002ebr.2	+	c.1731C>T	c.(1729-1731)CTC>CTT	p.L577L	ITGAM_uc002ebq.2_Silent_p.L576L|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_5'UTR|ITGAM_uc002ebs.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	integrin alpha M isoform 1 precursor	576	Extracellular (Potential).|FG-GAP 7.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.312343	365.358598	377.802926	124	273	KEEP	---	---	---	---	capture		Silent	SNP	31332582	31332582	8191	16	C	T	T	T	405	32	ITGAM	2	2
TGFB1I1	7041	broad.mit.edu	37	16	31485912	31485912	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31485912C>T	uc002ecd.1	+	c.548C>T	c.(547-549)CCG>CTG	p.P183L	TGFB1I1_uc002ece.1_Missense_Mutation_p.P166L|TGFB1I1_uc010caq.1_Missense_Mutation_p.P22L	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced	183	Transcription activation (By similarity).|Interaction with PTK2B.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding				0														0.226415	27.565679	31.215653	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31485912	31485912	16345	16	C	T	T	T	299	23	TGFB1I1	1	1
GPT2	84706	broad.mit.edu	37	16	46940822	46940822	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46940822G>T	uc002eel.2	+	c.511G>T	c.(511-513)GAT>TAT	p.D171Y	GPT2_uc002eem.2_Missense_Mutation_p.D71Y	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	171					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.266667	76.467575	82.356405	32	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46940822	46940822	7014	16	G	T	T	T	533	41	GPT2	2	2
ITFG1	81533	broad.mit.edu	37	16	47252779	47252779	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:47252779C>G	uc002eet.2	-	c.1453G>C	c.(1453-1455)GCT>CCT	p.A485P	ITFG1_uc010vgg.1_Missense_Mutation_p.A230P|ITFG1_uc010vgh.1_Missense_Mutation_p.A372P	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	485						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)												0.244681	55.275802	60.861045	23	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47252779	47252779	8173	16	C	G	G	G	312	24	ITFG1	3	3
ABCC12	94160	broad.mit.edu	37	16	48177929	48177929	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48177929G>T	uc002efc.1	-	c.167C>A	c.(166-168)ACA>AAA	p.T56K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.T56K|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	56						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2		all_cancers(37;0.0474)|all_lung(18;0.047)												0.273437	98.867025	104.788491	35	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48177929	48177929	53	16	G	T	T	T	624	48	ABCC12	2	2
PPL	5493	broad.mit.edu	37	16	4935985	4935985	+	Missense_Mutation	SNP	C	T	T	rs35869286	byFrequency;by1000genomes	TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4935985C>T	uc002cyd.1	-	c.2671G>A	c.(2671-2673)GAG>AAG	p.E891K		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	891	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4														0.323699	154.455671	159.222311	56	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4935985	4935985	12769	16	C	T	T	T	390	30	PPL	2	2
FTSJD1	55783	broad.mit.edu	37	16	71318668	71318668	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71318668C>A	uc010cga.2	-	c.1156G>T	c.(1156-1158)GGA>TGA	p.G386*	FTSJD1_uc002ezy.3_Nonsense_Mutation_p.G386*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.G386*	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	386						integral to membrane	methyltransferase activity|nucleic acid binding				0														0.402597	92.808532	93.447621	31	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71318668	71318668	6341	16	C	A	A	A	286	22	FTSJD1	5	2
MSLN	10232	broad.mit.edu	37	16	816888	816888	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:816888G>T	uc002cjw.1	+	c.1401G>T	c.(1399-1401)GCG>GCT	p.A467A	MSLN_uc002cjt.1_Silent_p.A459A|MSLN_uc002cju.1_Silent_p.A459A|MSLN_uc010brd.1_Silent_p.A458A|MSLN_uc002cjv.1_Silent_p.A459A|MSLN_uc002cjx.1_Silent_p.A459A|MSLN_uc002cjy.1_Silent_p.A124A	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	467					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)												0.141176	18.74916	29.30458	12	73	KEEP	---	---	---	---	capture		Silent	SNP	816888	816888	10274	16	G	T	T	T	496	39	MSLN	1	1
FBXO31	79791	broad.mit.edu	37	16	87367539	87367539	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:87367539C>A	uc002fjw.2	-	c.1350G>T	c.(1348-1350)GTG>GTT	p.V450V	FBXO31_uc010vot.1_Silent_p.V278V|FBXO31_uc002fjv.2_Silent_p.V342V	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	450					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)										0.326531	42.779789	44.089517	16	33	KEEP	---	---	---	---	capture		Silent	SNP	87367539	87367539	5978	16	C	A	A	A	262	21	FBXO31	2	2
MYOCD	93649	broad.mit.edu	37	17	12666814	12666814	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12666814G>T	uc002gno.2	+	c.2814G>T	c.(2812-2814)ATG>ATT	p.M938I	MYOCD_uc002gnn.2_Missense_Mutation_p.M890I|MYOCD_uc002gnq.2_Missense_Mutation_p.M614I	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	890					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.424242	86.388644	86.719179	28	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12666814	12666814	10482	17	G	T	T	T	611	47	MYOCD	2	2
HS3ST3A1	9955	broad.mit.edu	37	17	13399534	13399534	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:13399534C>T	uc002gob.1	-	c.1201G>A	c.(1201-1203)GAC>AAC	p.D401N		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	401	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)										0.140625	15.329197	23.30902	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13399534	13399534	7659	17	C	T	T	T	403	31	HS3ST3A1	1	1
TOP3A	7156	broad.mit.edu	37	17	18194199	18194199	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18194199C>T	uc002gsx.1	-	c.1424G>A	c.(1423-1425)CGA>CAA	p.R475Q	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_Missense_Mutation_p.R5Q|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.R373Q	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	475					DNA topological change|DNA unwinding involved in replication|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(2)	2														0.392857	100.057783	100.901725	33	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18194199	18194199	16909	17	C	T	T	T	403	31	TOP3A	1	1
KSR1	8844	broad.mit.edu	37	17	25909923	25909923	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:25909923G>A	uc010crg.2	+	c.361G>A	c.(361-363)GGC>AGC	p.G121S	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	256				FSEGLSDTCIPLHASGRLTPRAL -> EFRHTSALTQHTAH TQHTSAHTQ (in Ref. 3).	protein phosphorylation|Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		Esophageal Squamous(88;1120 1336 6324 10502 16832)			p.G121S(UACC812-Tumor)	1488				0.352941	16.140741	16.466685	6	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25909923	25909923	8904	17	G	A	A	A	507	39	KSR1	1	1
CCDC55	84081	broad.mit.edu	37	17	28506276	28506276	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28506276G>A	uc002heu.2	+	c.469G>A	c.(469-471)GAA>AAA	p.E157K	CCDC55_uc002hev.2_Missense_Mutation_p.E103K|CCDC55_uc010wbl.1_Missense_Mutation_p.E103K|CCDC55_uc010wbm.1_Missense_Mutation_p.E103K|CCDC55_uc002hex.2_Missense_Mutation_p.E103K	NM_032141	NP_115517	Q9H0G5	CCD55_HUMAN	coiled-coil domain containing 55 isoform 1	157	Potential.					nuclear speck				ovary(1)	1														0.194444	14.602334	17.73938	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28506276	28506276	2948	17	G	A	A	A	585	45	CCDC55	2	2
ZNF830	91603	broad.mit.edu	37	17	33289356	33289356	+	Silent	SNP	T	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33289356T>C	uc002hih.3	+	c.771T>C	c.(769-771)GAT>GAC	p.D257D	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	257					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)												0.315789	71.477467	73.768693	24	52	KEEP	---	---	---	---	capture		Silent	SNP	33289356	33289356	18783	17	T	C	C	C	660	51	ZNF830	4	4
SLFN12	55106	broad.mit.edu	37	17	33738843	33738843	+	Silent	SNP	G	A	A	rs112295255		TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33738843G>A	uc002hji.3	-	c.1251C>T	c.(1249-1251)GTC>GTT	p.V417V	SLFN12_uc002hjj.3_Silent_p.V417V|SLFN12_uc010cts.2_Silent_p.V417V	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	417							ATP binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.197425	97.202354	117.083298	46	187	KEEP	---	---	---	---	capture		Silent	SNP	33738843	33738843	15231	17	G	A	A	A	574	45	SLFN12	2	2
KRT26	353288	broad.mit.edu	37	17	38926035	38926035	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38926035C>G	uc002hvf.2	-	c.940G>C	c.(940-942)GAA>CAA	p.E314Q		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	314	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)												0.159091	69.350172	88.784577	28	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38926035	38926035	8778	17	C	G	G	G	390	30	KRT26	3	3
ARL4D	379	broad.mit.edu	37	17	41477680	41477680	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41477680G>T	uc002idt.2	+	c.580G>T	c.(580-582)GCT>TCT	p.A194S		NM_001661	NP_001652	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	194					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)										0.323529	27.307624	28.250575	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41477680	41477680	955	17	G	T	T	T	442	34	ARL4D	2	2
MAPT	4137	broad.mit.edu	37	17	44049287	44049287	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44049287G>T	uc010dau.2	+	c.196G>T	c.(196-198)GCT>TCT	p.A66S	MAPT_uc002ijr.3_Missense_Mutation_p.A66S|MAPT_uc002ijs.3_Missense_Mutation_p.A66S|MAPT_uc002ijx.3_Missense_Mutation_p.A66S|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Missense_Mutation_p.A66S	NM_001123066	NP_001116538	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 6	66					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)												0.333333	69.374927	71.146708	24	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44049287	44049287	9680	17	G	T	T	T	598	46	MAPT	2	2
KIAA1267	284058	broad.mit.edu	37	17	44248468	44248468	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44248468G>C	uc002ikb.2	-	c.1042C>G	c.(1042-1044)CGA>GGA	p.R348G	KIAA1267_uc002ikc.2_Missense_Mutation_p.R348G|KIAA1267_uc002ikd.2_Missense_Mutation_p.R348G|KIAA1267_uc010dav.2_Missense_Mutation_p.R348G	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	348						MLL1 complex	protein binding				0		Melanoma(429;0.211)												0.114094	30.969976	52.842708	17	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44248468	44248468	8528	17	G	C	C	C	480	37	KIAA1267	3	3
HOXB1	3211	broad.mit.edu	37	17	46608020	46608020	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46608020C>A	uc002ink.1	-	c.247G>T	c.(247-249)GGG>TGG	p.G83W		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	83						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.155556	22.050951	32.203711	14	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46608020	46608020	7591	17	C	A	A	A	286	22	HOXB1	2	2
UTP18	51096	broad.mit.edu	37	17	49353256	49353256	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:49353256A>T	uc002its.2	+	c.741A>T	c.(739-741)GAA>GAT	p.E247D		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component	247					rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)											0.140187	23.553539	36.928355	15	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49353256	49353256	17663	17	A	T	T	T	24	2	UTP18	3	3
KIF2B	84643	broad.mit.edu	37	17	51901221	51901221	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901221A>G	uc002iua.2	+	c.827A>G	c.(826-828)AAC>AGC	p.N276S		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	276	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.185185	38.27442	45.80441	15	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51901221	51901221	8609	17	A	G	G	G	26	2	KIF2B	4	4
MRC2	9902	broad.mit.edu	37	17	60744814	60744814	+	Nonsense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60744814G>A	uc002jad.2	+	c.1037G>A	c.(1036-1038)TGG>TAG	p.W346*	MRC2_uc002jac.2_Nonsense_Mutation_p.W346*	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	346	Extracellular (Potential).|C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.310345	49.026249	50.885929	18	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60744814	60744814	10150	17	G	A	A	A	611	47	MRC2	5	2
ABCA9	10350	broad.mit.edu	37	17	66982438	66982438	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66982438C>T	uc002jhu.2	-	c.4075G>A	c.(4075-4077)GAA>AAA	p.E1359K	ABCA9_uc010dez.2_Missense_Mutation_p.E1321K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1359	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.126316	17.567733	30.484484	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66982438	66982438	40	17	C	T	T	T	390	30	ABCA9	2	2
CDC42EP4	23580	broad.mit.edu	37	17	71282454	71282454	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71282454G>A	uc002jjn.2	-	c.186C>T	c.(184-186)GGC>GGT	p.G62G	CDC42EP4_uc002jjo.2_Silent_p.G62G|CDC42EP4_uc002jjp.1_Intron	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	62					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)											0.152778	18.296585	26.590679	11	61	KEEP	---	---	---	---	capture		Silent	SNP	71282454	71282454	3206	17	G	A	A	A	483	38	CDC42EP4	1	1
NEURL4	84461	broad.mit.edu	37	17	7226812	7226813	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7226812_7226813CC>AA	uc002gga.1	-	c.2408_2409GG>TT	c.(2407-2409)TGG>TTT	p.W803F	NEURL4_uc002ggb.1_Missense_Mutation_p.W803F|NEURL4_uc002ggc.1_Missense_Mutation_p.W149F	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	803	NHR 4.						protein binding			ovary(1)	1														0.5	71.979289	71.979289	24	24	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	7226812	7226813	10747	17	CC	AA	AA	AA	390	30	NEURL4	2	2
ITGB4	3691	broad.mit.edu	37	17	73736056	73736056	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73736056C>T	uc002jpg.2	+	c.2350C>T	c.(2350-2352)CTC>TTC	p.L784F	ITGB4_uc002jph.2_Missense_Mutation_p.L784F|ITGB4_uc010dgo.2_Missense_Mutation_p.L784F|ITGB4_uc002jpi.3_Missense_Mutation_p.L784F|ITGB4_uc010dgp.1_Missense_Mutation_p.L784F|ITGB4_uc002jpj.2_Missense_Mutation_p.L784F	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	784	Cytoplasmic (Potential).				cell communication|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development	integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)							754				0.218182	29.445411	33.502078	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73736056	73736056	8201	17	C	T	T	T	312	24	ITGB4	2	2
DNAH17	8632	broad.mit.edu	37	17	76433798	76433798	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76433798G>A	uc010dhp.1	-	c.2958C>T	c.(2956-2958)AAC>AAT	p.N986N	DNAH17_uc002jvq.2_Silent_p.N271N|DNAH17_uc002jvs.2_Non-coding_Transcript	DNEL2				SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)											0.212121	16.506516	19.034727	7	26	KEEP	---	---	---	---	capture		Silent	SNP	76433798	76433798	4784	17	G	A	A	A	516	40	DNAH17	1	1
DNAH2	146754	broad.mit.edu	37	17	7667583	7667583	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7667583G>A	uc002giu.1	+	c.3328G>A	c.(3328-3330)GAG>AAG	p.E1110K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1110	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.157895	34.477096	47.198654	18	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7667583	7667583	4785	17	G	A	A	A	481	37	DNAH2	1	1
SLC38A10	124565	broad.mit.edu	37	17	79246366	79246366	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79246366G>A	uc002jzz.1	-	c.974C>T	c.(973-975)ACC>ATC	p.T325I	SLC38A10_uc002jzy.1_Missense_Mutation_p.T243I|SLC38A10_uc002kab.2_Missense_Mutation_p.T325I	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	325	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				pancreas(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)											0.304348	132.241953	137.729687	49	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79246366	79246366	15099	17	G	A	A	A	572	44	SLC38A10	2	2
ALOX12B	242	broad.mit.edu	37	17	7983194	7983194	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7983194G>T	uc002gjy.1	-	c.820C>A	c.(820-822)CCC>ACC	p.P274T		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	274	Lipoxygenase.				epidermis development|leukotriene biosynthetic process|oxidation-reduction process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0											Multiple Myeloma(8;0.094)			0.227273	12.46288	13.965109	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7983194	7983194	540	17	G	T	T	T	559	43	ALOX12B	2	2
FAM38B	63895	broad.mit.edu	37	18	10672837	10672837	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:10672837G>T	uc002kor.3	-	c.1727C>A	c.(1726-1728)TCC>TAC	p.S576Y	FAM38B_uc002koq.2_Missense_Mutation_p.S411Y	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2619						integral to membrane	ion channel activity			ovary(1)	1														0.323529	116.644914	120.408797	44	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10672837	10672837	5776	18	G	T	T	T	533	41	FAM38B	2	2
FAM38B	63895	broad.mit.edu	37	18	10696195	10696195	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:10696195G>C	uc002kor.3	-	c.599C>G	c.(598-600)ACC>AGC	p.T200S	FAM38B_uc002koq.2_Missense_Mutation_p.T98S	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2243	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1														0.169014	32.065251	39.419681	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10696195	10696195	5776	18	G	C	C	C	572	44	FAM38B	3	3
DSG1	1828	broad.mit.edu	37	18	28935179	28935179	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28935179G>T	uc002kwp.2	+	c.3020G>T	c.(3019-3021)GGA>GTA	p.G1007V	DSG1_uc010xbp.1_Missense_Mutation_p.G366V	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	1007	Cytoplasmic (Potential).|Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.428571	55.059982	55.279123	21	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28935179	28935179	4960	18	G	T	T	T	533	41	DSG1	2	2
DTNA	1837	broad.mit.edu	37	18	32431873	32431873	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32431873G>A	uc010dmn.1	+	c.1432G>A	c.(1432-1434)GAG>AAG	p.E478K	DTNA_uc010xbx.1_Missense_Mutation_p.E228K|DTNA_uc002kxv.3_Missense_Mutation_p.E421K|DTNA_uc002kxw.2_Missense_Mutation_p.E421K|DTNA_uc010dmj.2_Missense_Mutation_p.E418K|DTNA_uc002kxz.2_Missense_Mutation_p.E418K|DTNA_uc002kxy.2_Missense_Mutation_p.E418K|DTNA_uc010dml.2_Missense_Mutation_p.E418K|DTNA_uc002kyb.3_Missense_Mutation_p.E475K|DTNA_uc010dmm.2_Missense_Mutation_p.E478K|DTNA_uc010xby.1_Missense_Mutation_p.E168K|DTNA_uc010dmo.2_Missense_Mutation_p.E100K|DTNA_uc002kyd.3_Missense_Mutation_p.E100K|DTNA_uc010xbz.1_Missense_Mutation_p.E187K|DTNA_uc010xca.1_Missense_Mutation_p.E130K|DTNA_uc002kye.2_Missense_Mutation_p.E126K	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	478	Potential.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.416667	104.906651	105.41681	35	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32431873	32431873	4973	18	G	A	A	A	585	45	DTNA	2	2
KIAA1632	57724	broad.mit.edu	37	18	43497741	43497741	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43497741G>A	uc002lbm.2	-	c.3142C>T	c.(3142-3144)CTG>TTG	p.L1048L	KIAA1632_uc002lbo.1_Silent_p.L1048L|KIAA1632_uc010xcq.1_5'Flank|KIAA1632_uc010xcr.1_5'Flank|KIAA1632_uc010xcs.1_5'Flank|KIAA1632_uc002lbn.2_5'UTR	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1048					autophagy						0														0.48366	238.039115	238.07488	74	79	KEEP	---	---	---	---	capture		Silent	SNP	43497741	43497741	8558	18	G	A	A	A	425	33	KIAA1632	2	2
SMAD4	4089	broad.mit.edu	37	18	48591909	48591909	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48591909G>T	uc010xdp.1	+	c.1072G>T	c.(1072-1074)GGA>TGA	p.G358*	SMAD4_uc002lfb.3_Nonsense_Mutation_p.G203*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	358	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|promoter binding|protein homodimerization activity|R-SMAD binding|transcription activator activity|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.G358*(3)		pancreas(169)|large_intestine(108)|thyroid(19)|lung(10)|small_intestine(9)|biliary_tract(8)|upper_aerodigestive_tract(7)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	364		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)						233				0.49697	261.442155	261.443521	82	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48591909	48591909	15258	18	G	T	T	T	611	47	SMAD4	5	2
WDR7	23335	broad.mit.edu	37	18	54694412	54694412	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:54694412G>T	uc002lgk.1	+	c.4447G>T	c.(4447-4449)GGG>TGG	p.G1483W	WDR7_uc002lgl.1_Missense_Mutation_p.G1450W	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1483										ovary(2)	2				Lung(128;0.0238)|Colorectal(16;0.0296)										0.733333	38.031709	38.769356	11	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54694412	54694412	17893	18	G	T	T	T	507	39	WDR7	1	1
CDH7	1005	broad.mit.edu	37	18	63489400	63489400	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63489400G>T	uc002ljz.2	+	c.709G>T	c.(709-711)GGT>TGT	p.G237C	CDH7_uc002lka.2_Missense_Mutation_p.G237C|CDH7_uc002lkb.2_Missense_Mutation_p.G237C	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	237	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.467391	136.417218	136.50243	43	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63489400	63489400	3244	18	G	T	T	T	611	47	CDH7	2	2
LAMA1	284217	broad.mit.edu	37	18	7007241	7007241	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7007241G>T	uc002knm.2	-	c.4157C>A	c.(4156-4158)CCA>CAA	p.P1386Q	LAMA1_uc010wzj.1_Missense_Mutation_p.P862Q	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1386	Laminin EGF-like 14; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.255319	32.477039	35.029834	12	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7007241	7007241	8928	18	G	T	T	T	611	47	LAMA1	2	2
ATP9B	374868	broad.mit.edu	37	18	77107846	77107846	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77107846A>C	uc002lmx.2	+	c.2759A>C	c.(2758-2760)CAC>CCC	p.H920P	ATP9B_uc002lmw.1_Missense_Mutation_p.H920P|ATP9B_uc002lmz.1_Missense_Mutation_p.H614P|ATP9B_uc002lna.2_5'UTR|ATP9B_uc002lnb.1_Missense_Mutation_p.H40P|ATP9B_uc010drb.2_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	920	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)										0.453125	90.250032	90.374155	29	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77107846	77107846	1218	18	A	C	C	C	78	6	ATP9B	4	4
IER2	9592	broad.mit.edu	37	19	13264219	13264219	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13264219G>T	uc002mwr.2	+	c.219G>T	c.(217-219)CCG>CCT	p.P73P		NM_004907	NP_004898	Q9BTL4	IER2_HUMAN	immediate early response 2	73										kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)									OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.6	28.471628	28.602078	9	6	KEEP	---	---	---	---	capture		Silent	SNP	13264219	13264219	7805	19	G	T	T	T	483	38	IER2	1	1
CYP4F12	66002	broad.mit.edu	37	19	15796003	15796003	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15796003G>A	uc002nbl.2	+	c.1111G>A	c.(1111-1113)GAA>AAA	p.E371K		NM_023944	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F,	371					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|central_nervous_system(2)	4	Acute lymphoblastic leukemia(2;0.0367)													0.433962	134.324891	134.729546	46	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15796003	15796003	4352	19	G	A	A	A	585	45	CYP4F12	2	2
MAP1S	55201	broad.mit.edu	37	19	17838467	17838467	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17838467G>T	uc002nhe.1	+	c.2274G>T	c.(2272-2274)GCG>GCT	p.A758A	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Silent_p.A6A|MAP1S_uc010xpv.1_Silent_p.A732A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	758	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1														0.423077	34.817415	34.952221	11	15	KEEP	---	---	---	---	capture		Silent	SNP	17838467	17838467	9617	19	G	T	T	T	509	40	MAP1S	1	1
NCAN	1463	broad.mit.edu	37	19	19334879	19334879	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19334879C>G	uc002nlz.2	+	c.525C>G	c.(523-525)TTC>TTG	p.F175L	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	175	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)											0.368421	90.492927	91.644134	28	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19334879	19334879	10603	19	C	G	G	G	402	31	NCAN	3	3
ZNF257	113835	broad.mit.edu	37	19	22271585	22271585	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22271585C>G	uc010ecx.2	+	c.1033C>G	c.(1033-1035)CAA>GAA	p.Q345E	ZNF257_uc010ecy.2_Missense_Mutation_p.Q313E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	345	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.378378	89.970858	90.935117	28	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22271585	22271585	18391	19	C	G	G	G	273	21	ZNF257	3	3
ZNF492	57615	broad.mit.edu	37	19	22847441	22847441	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22847441C>A	uc002nqw.3	+	c.970C>A	c.(970-972)CTT>ATT	p.L324I		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	324	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)												0.469136	119.244213	119.311306	38	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22847441	22847441	18537	19	C	A	A	A	312	24	ZNF492	2	2
ZNF681	148213	broad.mit.edu	37	19	23927877	23927877	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23927877C>A	uc002nrk.3	-	c.475G>T	c.(475-477)GGA>TGA	p.G159*	ZNF681_uc002nrl.3_Nonsense_Mutation_p.G90*|ZNF681_uc002nrj.3_Nonsense_Mutation_p.G90*	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	159	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)												0.413793	36.593783	36.782254	12	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23927877	23927877	18683	19	C	A	A	A	273	21	ZNF681	5	2
ZNF536	9745	broad.mit.edu	37	19	31039771	31039771	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039771G>T	uc002nsu.1	+	c.3245G>T	c.(3244-3246)GGT>GTT	p.G1082V	ZNF536_uc010edd.1_Missense_Mutation_p.G1082V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1082					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.541284	190.334823	190.497197	59	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31039771	31039771	18568	19	G	T	T	T	572	44	ZNF536	2	2
KIRREL2	84063	broad.mit.edu	37	19	36350474	36350474	+	Missense_Mutation	SNP	G	T	T	rs34494265	by1000genomes	TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36350474G>T	uc002ocb.3	+	c.614G>T	c.(613-615)CGG>CTG	p.R205L	KIRREL2_uc002obz.3_Missense_Mutation_p.R205L|KIRREL2_uc002oca.3_Missense_Mutation_p.R155L|KIRREL2_uc002occ.3_Missense_Mutation_p.R152L|KIRREL2_uc002ocd.3_Missense_Mutation_p.R202L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	205	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.48	158.089853	158.124876	48	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36350474	36350474	8637	19	G	T	T	T	507	39	KIRREL2	1	1
PIP5K1C	23396	broad.mit.edu	37	19	3638995	3638995	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3638995C>A	uc010xhr.1	-	c.1807G>T	c.(1807-1809)GGT>TGT	p.G603C	PIP5K1C_uc002lyj.1_Missense_Mutation_p.G603C|PIP5K1C_uc010xhq.1_Missense_Mutation_p.G603C	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	603					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		Esophageal Squamous(135;99 1744 12852 27186 39851)				246				0.32	22.387724	23.109402	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3638995	3638995	12365	19	C	A	A	A	299	23	PIP5K1C	1	1
THEG	51298	broad.mit.edu	37	19	375777	375777	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:375777G>A	uc002lol.2	-	c.194C>T	c.(193-195)CCC>CTC	p.P65L	THEG_uc002lom.2_Missense_Mutation_p.P65L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	65					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.303167	194.662281	202.292659	67	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	375777	375777	16385	19	G	A	A	A	559	43	THEG	2	2
EEF2	1938	broad.mit.edu	37	19	3979399	3979399	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3979399C>A	uc002lze.2	-	c.1641G>T	c.(1639-1641)GCG>GCT	p.A547A		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	547						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		Colon(165;1804 1908 4071 6587 18799)								0.219653	97.102774	109.592803	38	135	KEEP	---	---	---	---	capture		Silent	SNP	3979399	3979399	5116	19	C	A	A	A	288	23	EEF2	1	1
PSG6	5675	broad.mit.edu	37	19	43586697	43586697	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43586697A>G	uc002ovi.2	-	c.25T>C	c.(25-27)TGC>CGC	p.C9R	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.C9R|PSG2_uc002ovq.3_Missense_Mutation_p.C9R|PSG2_uc010eiq.1_Missense_Mutation_p.C9R|PSG2_uc002ovs.3_Missense_Mutation_p.C9R|PSG2_uc002ovt.3_Missense_Mutation_p.C9R	PSG6		Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	9					female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.261111	125.558022	134.845513	47	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43586697	43586697	13112	19	A	G	G	G	91	7	PSG6	4	4
PSG9	5678	broad.mit.edu	37	19	43773541	43773541	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43773541A>T	uc002owd.3	-	c.43T>A	c.(43-45)TGG>AGG	p.W15R	PSG9_uc002owe.3_Missense_Mutation_p.W15R|PSG9_uc010xwm.1_Missense_Mutation_p.W15R|PSG9_uc002owf.3_Missense_Mutation_p.W15R|PSG9_uc002owg.2_Missense_Mutation_p.W15R|PSG9_uc002owh.2_Missense_Mutation_p.W15R	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	15					female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.26738	140.45434	149.603657	50	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43773541	43773541	13115	19	A	T	T	T	91	7	PSG9	3	3
KLK7	5650	broad.mit.edu	37	19	51483660	51483660	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51483660G>T	uc002puo.2	-	c.305C>A	c.(304-306)CCC>CAC	p.P102H	KLK7_uc002pup.2_Missense_Mutation_p.P102H|KLK7_uc010yco.1_5'UTR|KLK7_uc010eok.2_Missense_Mutation_p.P30H	NM_139277	NP_644806	P49862	KLK7_HUMAN	stratum corneum chymotryptic enzyme	102	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				0.388889	61.406681	61.975078	21	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51483660	51483660	8723	19	G	T	T	T	559	43	KLK7	2	2
KLK8	11202	broad.mit.edu	37	19	51501051	51501051	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51501051C>A	uc002puq.1	-	c.718G>T	c.(718-720)GGC>TGC	p.G240C	KLK8_uc002pur.1_Missense_Mutation_p.G195C|KLK8_uc002pus.1_Missense_Mutation_p.G54C|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.G195C|KLK9_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	kallikrein 8 isoform 2	195	Peptidase S1.			G -> V (in Ref. 11; AAH40887).	cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)										0.386555	135.516017	136.859888	46	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51501051	51501051	8724	19	C	A	A	A	273	21	KLK8	2	2
ZNF701	55762	broad.mit.edu	37	19	53085491	53085491	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53085491C>T	uc010ydn.1	+	c.377C>T	c.(376-378)TCA>TTA	p.S126L	ZNF701_uc002pzs.1_Missense_Mutation_p.S60L	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		NSCLC(89;451 1475 9611 20673 52284)								0.181034	46.012639	57.098371	21	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53085491	53085491	18700	19	C	T	T	T	377	29	ZNF701	2	2
CACNG6	59285	broad.mit.edu	37	19	54515405	54515405	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54515405G>T	uc002qct.2	+	c.745G>T	c.(745-747)GGG>TGG	p.G249W	CACNG6_uc002qcu.2_Missense_Mutation_p.G203W|CACNG6_uc002qcv.2_Missense_Mutation_p.G178W	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	249						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)										0.258065	55.563803	60.494158	24	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54515405	54515405	2677	19	G	T	T	T	559	43	CACNG6	2	2
NLRP13	126204	broad.mit.edu	37	19	56413553	56413553	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56413553C>A	uc010ygg.1	-	c.2637G>T	c.(2635-2637)CTG>CTT	p.L879L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	879							ATP binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)										0.25	19.883778	21.702426	8	24	KEEP	---	---	---	---	capture		Silent	SNP	56413553	56413553	10878	19	C	A	A	A	262	21	NLRP13	2	2
INSR	3643	broad.mit.edu	37	19	7267399	7267399	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7267399C>A	uc002mgd.1	-	c.609G>T	c.(607-609)GGG>GGT	p.G203G	INSR_uc002mge.1_Silent_p.G203G|INSR_uc002mgf.2_Silent_p.G203G	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	203	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of gene-specific transcription|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)					649				0.175439	38.747137	50.061269	20	94	KEEP	---	---	---	---	capture		Silent	SNP	7267399	7267399	8074	19	C	A	A	A	327	26	INSR	2	2
ARHGEF18	23370	broad.mit.edu	37	19	7516153	7516153	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7516153G>T	uc002mgi.2	+	c.1291_splice	c.e6+1	p.A431_splice	ARHGEF18_uc010xjm.1_Splice_Site_SNP_p.A273_splice|ARHGEF18_uc002mgh.2_Splice_Site_SNP_p.A273_splice|ARHGEF18_uc002mgj.1_Splice_Site_SNP_p.A74_splice	NM_001130955	NP_001124427			Rho/Rac guanine nucleotide exchange factor 18						actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)												0.152174	12.634362	17.929668	7	39	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7516153	7516153	915	19	G	T	T	T	572	44	ARHGEF18	5	2
MUC16	94025	broad.mit.edu	37	19	9033633	9033633	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9033633T>G	uc002mkp.2	-	c.36304A>C	c.(36304-36306)ACA>CCA	p.T12102P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12104	SEA 1.|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														0.267442	71.991006	76.18767	23	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9033633	9033633	10367	19	T	G	G	G	767	59	MUC16	4	4
MUC16	94025	broad.mit.edu	37	19	9046284	9046284	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9046284T>A	uc002mkp.2	-	c.35347A>T	c.(35347-35349)AGT>TGT	p.S11783C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11785	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														0.19802	45.338282	53.917487	20	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9046284	9046284	10367	19	T	A	A	A	728	56	MUC16	3	3
MUC16	94025	broad.mit.edu	37	19	9077693	9077693	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9077693G>T	uc002mkp.2	-	c.9753C>A	c.(9751-9753)GCC>GCA	p.A3251A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3252	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														0.218905	105.293424	119.925925	44	157	KEEP	---	---	---	---	capture		Silent	SNP	9077693	9077693	10367	19	G	T	T	T	548	43	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9086151	9086151	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9086151C>A	uc002mkp.2	-	c.5664G>T	c.(5662-5664)ATG>ATT	p.M1888I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1888	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														0.333333	88.488477	90.7791	31	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9086151	9086151	10367	19	C	A	A	A	273	21	MUC16	2	2
OR7G1	125962	broad.mit.edu	37	19	9226295	9226295	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9226295C>T	uc002mks.1	-	c.145G>A	c.(145-147)GTC>ATC	p.V49I		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	49	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.183544	114.148558	143.861648	58	258	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9226295	9226295	11633	19	C	T	T	T	221	17	OR7G1	2	2
AGL	178	broad.mit.edu	37	1	100340791	100340791	+	Silent	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100340791C>G	uc001dsi.1	+	c.1164C>G	c.(1162-1164)CTC>CTG	p.L388L	AGL_uc001dsj.1_Silent_p.L388L|AGL_uc001dsk.1_Silent_p.L388L|AGL_uc001dsl.1_Silent_p.L388L|AGL_uc001dsm.1_Silent_p.L372L|AGL_uc001dsn.1_Silent_p.L371L	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	388	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)	2		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)										0.2375	58.984245	64.020303	19	61	KEEP	---	---	---	---	capture		Silent	SNP	100340791	100340791	387	1	C	G	G	G	366	29	AGL	3	3
VCAM1	7412	broad.mit.edu	37	1	101190386	101190386	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101190386G>A	uc001dti.2	+	c.868G>A	c.(868-870)GTG>ATG	p.V290M	VCAM1_uc001dtj.2_Missense_Mutation_p.V290M|VCAM1_uc010ouj.1_Missense_Mutation_p.V228M	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	290	Ig-like C2-type 3.|Extracellular (Potential).				B cell differentiation|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)									0.20339	51.325928	60.971141	24	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101190386	101190386	17702	1	G	A	A	A	624	48	VCAM1	2	2
VAV3	10451	broad.mit.edu	37	1	108138841	108138841	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108138841G>T	uc010ouw.1	-	c.2343C>A	c.(2341-2343)GGC>GGA	p.G781G	VAV3_uc010ouu.1_Silent_p.G185G|VAV3_uc001dvj.1_Silent_p.G221G|VAV3_uc010ouv.1_Silent_p.G185G|VAV3_uc001dvk.1_Silent_p.G781G	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	781					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(4)|lung(2)|breast(2)	8		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)										0.294821	205.462782	214.911045	74	177	KEEP	---	---	---	---	capture		Silent	SNP	108138841	108138841	17698	1	G	T	T	T	587	46	VAV3	2	2
PRPF38B	55119	broad.mit.edu	37	1	109235396	109235396	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109235396G>C	uc001dvv.3	+	c.183G>C	c.(181-183)ATG>ATC	p.M61I	PRPF38B_uc001dvw.3_5'UTR|PRPF38B_uc010ouz.1_5'UTR	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	61					mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)										0.178218	46.387721	56.231946	18	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109235396	109235396	13011	1	G	C	C	C	585	45	PRPF38B	3	3
PRPF38B	55119	broad.mit.edu	37	1	109238948	109238948	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109238948G>A	uc001dvv.3	+	c.547G>A	c.(547-549)GAT>AAT	p.D183N	PRPF38B_uc001dvw.3_Missense_Mutation_p.D72N|PRPF38B_uc010ouz.1_5'UTR	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	183					mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)										0.098837	13.0459	40.728107	17	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109238948	109238948	13011	1	G	A	A	A	585	45	PRPF38B	2	2
ATXN7L2	127002	broad.mit.edu	37	1	110034140	110034140	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110034140G>C	uc001dxr.2	+	c.1955G>C	c.(1954-1956)GGA>GCA	p.G652A	ATXN7L2_uc001dxs.2_Missense_Mutation_p.G279A|ATXN7L2_uc001dxt.2_Missense_Mutation_p.G155A|CYB561D1_uc010ovl.1_5'Flank|CYB561D1_uc010ovm.1_5'Flank|CYB561D1_uc001dxu.2_5'Flank|CYB561D1_uc001dxw.2_5'Flank|CYB561D1_uc010ovn.1_5'Flank|CYB561D1_uc010ovo.1_5'Flank|CYB561D1_uc009wfd.2_5'Flank|CYB561D1_uc010ovp.1_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	652										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)										0.145833	12.993227	18.784312	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110034140	110034140	1237	1	G	C	C	C	533	41	ATXN7L2	3	3
ALX3	257	broad.mit.edu	37	1	110607491	110607491	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110607491G>A	uc001dzb.2	-	c.312C>T	c.(310-312)CCC>CCT	p.P104P		NM_006492	NP_006483	O95076	ALX3_HUMAN	aristaless-like homeobox 3	104					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)										0.245283	33.048078	36.180908	13	40	KEEP	---	---	---	---	capture		Silent	SNP	110607491	110607491	560	1	G	A	A	A	548	43	ALX3	2	2
VANGL1	81839	broad.mit.edu	37	1	116206455	116206455	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:116206455C>T	uc001efv.1	+	c.378C>T	c.(376-378)ACC>ACT	p.T126T	VANGL1_uc009wgy.1_Silent_p.T124T|VANGL1_uc001efw.1_Silent_p.T126T	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	126	Helical; Name=1; (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)										0.182482	54.286057	67.266735	25	112	KEEP	---	---	---	---	capture		Silent	SNP	116206455	116206455	17684	1	C	T	T	T	275	22	VANGL1	2	2
TTF2	8458	broad.mit.edu	37	1	117626717	117626717	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117626717G>T	uc001egy.2	+	c.1981G>T	c.(1981-1983)GAG>TAG	p.E661*		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	661	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|RNA polymerase II transcription termination factor activity|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)										0.178295	38.670966	51.36592	23	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	117626717	117626717	17274	1	G	T	T	T	533	41	TTF2	5	2
MLLT11	10962	broad.mit.edu	37	1	151039792	151039792	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151039792G>A	uc001ewq.2	+	c.92G>A	c.(91-93)GGT>GAT	p.G31D		NM_006818	NP_006809	Q13015	AF1Q_HUMAN	MLLT11 protein	31					positive regulation of apoptosis|positive regulation of gene-specific transcription|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria						0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)							17				0.143617	42.09949	65.098935	27	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151039792	151039792	10017	1	G	A	A	A	572	44	MLLT11	2	2
RFX5	5993	broad.mit.edu	37	1	151316173	151316173	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151316173C>T	uc001exv.1	-	c.741G>A	c.(739-741)AAG>AAA	p.K247K	RFX5_uc001exw.1_Silent_p.K247K|RFX5_uc009wmr.1_Silent_p.K247K|RFX5_uc010pcx.1_Silent_p.K207K	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	247						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)											0.362319	77.655866	78.807094	25	44	KEEP	---	---	---	---	capture		Silent	SNP	151316173	151316173	13738	1	C	T	T	T	311	24	RFX5	2	2
FLG2	388698	broad.mit.edu	37	1	152324370	152324370	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152324370G>T	uc001ezw.3	-	c.5892C>A	c.(5890-5892)CCC>CCA	p.P1964P		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1964	Filaggrin 8.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.178161	200.629454	251.477575	93	429	KEEP	---	---	---	---	capture		Silent	SNP	152324370	152324370	6161	1	G	T	T	T	444	35	FLG2	2	2
LOR	4014	broad.mit.edu	37	1	153233489	153233489	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153233489G>A	uc001fbm.2	+	c.64G>A	c.(64-66)GGC>AGC	p.G22S		NM_000427	NP_000418	P23490	LORI_HUMAN	loricrin	22					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton				0	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.28	18.714721	19.802514	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153233489	153233489	9269	1	G	A	A	A	507	39	LOR	1	1
AQP10	89872	broad.mit.edu	37	1	154293724	154293724	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154293724G>A	uc001feu.2	+	c.93G>A	c.(91-93)GTG>GTA	p.V31V	AQP10_uc001fev.2_Silent_p.V31V	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	31	Helical; (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.241379	49.025395	54.339033	21	66	KEEP	---	---	---	---	capture		Silent	SNP	154293724	154293724	833	1	G	A	A	A	613	48	AQP10	2	2
ADAR	103	broad.mit.edu	37	1	154558793	154558793	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154558793C>A	uc001ffh.2	-	c.3066G>T	c.(3064-3066)TGG>TGT	p.W1022C	ADAR_uc001ffj.2_Missense_Mutation_p.W977C|ADAR_uc001ffi.2_Missense_Mutation_p.W996C|ADAR_uc001ffk.2_Missense_Mutation_p.W727C	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	1022	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)	5	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)										0.294872	60.619115	63.541514	23	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154558793	154558793	282	1	C	A	A	A	286	22	ADAR	2	2
SHC1	6464	broad.mit.edu	37	1	154940998	154940998	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154940998G>A	uc001ffw.2	-	c.723C>T	c.(721-723)CTC>CTT	p.L241L	SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Silent_p.L12L|SHC1_uc001ffv.2_Silent_p.L241L|SHC1_uc001ffx.2_Silent_p.L131L|SHC1_uc001ffy.2_Silent_p.L131L	NM_001130040	NP_001123512	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 3	241	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			NSCLC(4;32 234 1864 2492 3259 13747 17376)				160				0.27044	335.554864	358.236098	129	348	KEEP	---	---	---	---	capture		Silent	SNP	154940998	154940998	14762	1	G	A	A	A	574	45	SHC1	2	2
HCN3	57657	broad.mit.edu	37	1	155254545	155254545	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155254545G>A	uc001fjz.1	+	c.1086G>A	c.(1084-1086)GAG>GAA	p.E362E	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Silent_p.E57E	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	362	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)											0.290909	44.176078	46.33125	16	39	KEEP	---	---	---	---	capture		Silent	SNP	155254545	155254545	7280	1	G	A	A	A	425	33	HCN3	2	2
OR6Y1	391112	broad.mit.edu	37	1	158517680	158517680	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158517680G>T	uc010pil.1	-	c.216C>A	c.(214-216)TCC>TCA	p.S72S		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.251613	100.357516	109.040794	39	116	KEEP	---	---	---	---	capture		Silent	SNP	158517680	158517680	11624	1	G	T	T	T	444	35	OR6Y1	2	2
AIM2	9447	broad.mit.edu	37	1	159032508	159032508	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159032508C>A	uc001ftj.1	-	c.1006G>T	c.(1006-1008)GTT>TTT	p.V336F		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	336	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)													0.164706	27.097812	36.168187	14	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159032508	159032508	435	1	C	A	A	A	234	18	AIM2	2	2
IGSF8	93185	broad.mit.edu	37	1	160062751	160062751	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160062751G>A	uc001fva.2	-	c.1275C>T	c.(1273-1275)GCC>GCT	p.A425A	IGSF8_uc001fuz.2_Silent_p.A425A|IGSF8_uc009wtf.2_Silent_p.A425A	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	425	Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)											0.207547	26.69941	30.896215	11	42	KEEP	---	---	---	---	capture		Silent	SNP	160062751	160062751	7905	1	G	A	A	A	548	43	IGSF8	2	2
ADCY10	55811	broad.mit.edu	37	1	167815034	167815034	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167815034C>A	uc001ger.2	-	c.2774G>T	c.(2773-2775)AGG>ATG	p.R925M	ADCY10_uc009wvk.2_Missense_Mutation_p.R833M|ADCY10_uc010plj.1_Missense_Mutation_p.R772M|ADCY10_uc009wvl.2_Missense_Mutation_p.R924M	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	925					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.317241	129.304515	133.607247	46	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167815034	167815034	294	1	C	A	A	A	312	24	ADCY10	2	2
FMO3	2328	broad.mit.edu	37	1	171061893	171061893	+	Missense_Mutation	SNP	G	A	A	rs72549320		TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171061893G>A	uc001ghi.2	+	c.94G>A	c.(94-96)GAG>AAG	p.E32K	FMO3_uc010pma.1_Non-coding_Transcript|FMO3_uc001ghh.2_Missense_Mutation_p.E32K|FMO3_uc010pmb.1_5'UTR|FMO3_uc010pmc.1_Missense_Mutation_p.E32K	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	32			E -> K (in TMAU).		oxidation-reduction process|xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.279412	50.292489	53.270304	19	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171061893	171061893	6198	1	G	A	A	A	585	45	FMO3	2	2
CROCC	9696	broad.mit.edu	37	1	17292345	17292345	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17292345C>T	uc001azt.2	+	c.4533C>T	c.(4531-4533)CTC>CTT	p.L1511L	CROCC_uc001azu.2_Silent_p.L814L|CROCC_uc001azv.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1511	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)										0.310345	51.060487	52.901398	18	40	KEEP	---	---	---	---	capture		Silent	SNP	17292345	17292345	4032	1	C	T	T	T	379	30	CROCC	2	2
RABGAP1L	9910	broad.mit.edu	37	1	174652687	174652687	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:174652687G>T	uc001gjx.2	+	c.1852G>T	c.(1852-1854)GGG>TGG	p.G618W		NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	618	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4														0.263699	209.836361	224.58285	77	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174652687	174652687	13424	1	G	T	T	T	611	47	RABGAP1L	2	2
TNR	7143	broad.mit.edu	37	1	175332952	175332952	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175332952G>T	uc001gkp.1	-	c.2599C>A	c.(2599-2601)CCA>ACA	p.P867T	TNR_uc009wwu.1_Missense_Mutation_p.P867T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	867	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.171875	44.816687	57.805245	22	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175332952	175332952	16879	1	G	T	T	T	559	43	TNR	2	2
PAPPA2	60676	broad.mit.edu	37	1	176525551	176525551	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176525551G>C	uc001gkz.2	+	c.93G>C	c.(91-93)AAG>AAC	p.K31N	PAPPA2_uc001gky.1_Missense_Mutation_p.K31N|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	31					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.264574	188.235056	199.399136	59	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176525551	176525551	11850	1	G	C	C	C	425	33	PAPPA2	3	3
PAPPA2	60676	broad.mit.edu	37	1	176563697	176563697	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176563697A>T	uc001gkz.2	+	c.957A>T	c.(955-957)AAA>AAT	p.K319N	PAPPA2_uc001gky.1_Missense_Mutation_p.K319N|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	319					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.231707	47.982032	53.388885	19	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176563697	176563697	11850	1	A	T	T	T	37	3	PAPPA2	3	3
PAPPA2	60676	broad.mit.edu	37	1	176563851	176563851	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176563851T>A	uc001gkz.2	+	c.1111T>A	c.(1111-1113)TAC>AAC	p.Y371N	PAPPA2_uc001gky.1_Missense_Mutation_p.Y371N|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	371					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.24359	44.786962	49.460939	19	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176563851	176563851	11850	1	T	A	A	A	793	61	PAPPA2	3	3
RGS1	5996	broad.mit.edu	37	1	192544966	192544966	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192544966C>T	uc001gsi.1	+	c.44C>T	c.(43-45)CCA>CTA	p.P15L	RGS1_uc010pou.1_Missense_Mutation_p.P15L	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	15					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)												0.180851	39.216377	48.216806	17	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192544966	192544966	13766	1	C	T	T	T	273	21	RGS1	2	2
PTPRC	5788	broad.mit.edu	37	1	198691572	198691572	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198691572G>T	uc001gur.1	+	c.1681G>T	c.(1681-1683)GGA>TGA	p.G561*	PTPRC_uc001gus.1_Nonsense_Mutation_p.G513*|PTPRC_uc001gut.1_Nonsense_Mutation_p.G400*|PTPRC_uc009wzf.1_Nonsense_Mutation_p.G449*|PTPRC_uc010ppg.1_Nonsense_Mutation_p.G497*	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	561	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.192308	58.504079	69.993724	25	105	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	198691572	198691572	13254	1	G	T	T	T	611	47	PTPRC	5	2
NR5A2	2494	broad.mit.edu	37	1	200143263	200143263	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200143263C>T	uc001gvb.2	+	c.1551C>T	c.(1549-1551)CTC>CTT	p.L517L	NR5A2_uc001gvc.2_Silent_p.L471L|NR5A2_uc009wzh.2_Silent_p.L477L|NR5A2_uc010pph.1_Silent_p.L445L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	517					embryo development|positive regulation of gene-specific transcription|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|promoter binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					Melanoma(179;1138 2773 15678 26136)								0.25	64.821991	70.507087	25	75	KEEP	---	---	---	---	capture		Silent	SNP	200143263	200143263	11041	1	C	T	T	T	405	32	NR5A2	2	2
CR1	1378	broad.mit.edu	37	1	207760745	207760746	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207760745_207760746CC>AA	uc001hfx.2	+	c.5545_5546CC>AA	c.(5545-5547)CCA>AAA	p.P1849K	CR1_uc009xcl.1_Missense_Mutation_p.P949K|CR1_uc001hfy.2_Missense_Mutation_p.P1399K	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	1399	Sushi 22.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.210937	64.909626	74.76198	27	101	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	207760745	207760746	3979	1	CC	AA	AA	AA	286	22	CR1	2	2
USH2A	7399	broad.mit.edu	37	1	216256822	216256822	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216256822G>A	uc001hku.1	-	c.5274C>T	c.(5272-5274)AAC>AAT	p.N1758N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1758	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.251852	169.062123	184.171324	68	202	KEEP	---	---	---	---	capture		Silent	SNP	216256822	216256822	17598	1	G	A	A	A	620	48	USH2A	2	2
USP48	84196	broad.mit.edu	37	1	22032301	22032301	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22032301G>A	uc010odq.1	-	c.2339C>T	c.(2338-2340)TCA>TTA	p.S780L	USP48_uc001bfa.2_Missense_Mutation_p.S306L|USP48_uc001bfb.2_Missense_Mutation_p.S768L|USP48_uc009vqc.2_Missense_Mutation_p.S702L|USP48_uc001bfc.2_Missense_Mutation_p.S768L|USP48_uc001bfd.1_5'Flank	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	768	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)										0.234043	26.396138	29.442795	11	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22032301	22032301	17643	1	G	A	A	A	585	45	USP48	2	2
HLX	3142	broad.mit.edu	37	1	221057757	221057757	+	Missense_Mutation	SNP	G	T	T	rs77213368	by1000genomes	TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:221057757G>T	uc001hmv.3	+	c.1178G>T	c.(1177-1179)CGG>CTG	p.R393L		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	393	Ser-rich.				cell differentiation|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)										0.170213	15.869866	20.706373	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	221057757	221057757	7507	1	G	T	T	T	507	39	HLX	1	1
OBSCN	84033	broad.mit.edu	37	1	228401911	228401912	+	Missense_Mutation	DNP	TG	GT	GT			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228401911_228401912TG>GT	uc009xez.1	+	c.1295_1296TG>GT	c.(1294-1296)GTG>GGT	p.V432G	OBSCN_uc001hsn.2_Missense_Mutation_p.V432G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	432	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.186441	25.698778	31.127284	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	228401911	228401912	11217	1	TG	GT	GT	GT	767	59	OBSCN	4	4
OBSCN	84033	broad.mit.edu	37	1	228475809	228475809	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228475809G>A	uc009xez.1	+	c.9859G>A	c.(9859-9861)GAA>AAA	p.E3287K	OBSCN_uc001hsn.2_Missense_Mutation_p.E3287K|OBSCN_uc001hsq.1_Missense_Mutation_p.E543K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3287	Ig-like 33.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.121951	13.086407	24.572089	10	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228475809	228475809	11217	1	G	A	A	A	429	33	OBSCN	2	2
HIST3H2BB	128312	broad.mit.edu	37	1	228646048	228646048	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228646048G>T	uc001hsz.2	+	c.218G>T	c.(217-219)CGC>CTC	p.R73L	HIST3H2A_uc001hsy.2_5'Flank	NM_175055	NP_778225	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					nucleosome assembly	nucleosome|nucleus	DNA binding				0		Prostate(94;0.183)												0.29375	125.77664	131.863468	47	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228646048	228646048	7474	1	G	T	T	T	494	38	HIST3H2BB	1	1
URB2	9816	broad.mit.edu	37	1	229773791	229773793	+	Missense	Complex_substitution	ANA	TNT	TNT			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229773791A>T	uc001hts.1	+	c.3431A>T	c.(3430-3432)GAC>GTC	p.D1144V	URB2_uc009xfd.1_Missense_Mutation_p.D1144V	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1144						nucleolus				central_nervous_system(2)|ovary(1)	3										340				0.2	45.11828	53.906594	21	84	KEEP	---	---	---	---	capture		Missense	Complex_substitution	229773791	229773793	17587	1	ANA	TNT	TNT	T	130	10	URB2	5	5
LYST	1130	broad.mit.edu	37	1	235993715	235993715	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235993715C>T	uc001hxj.2	-	c.3G>A	c.(1-3)ATG>ATA	p.M1I	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.M1I|LYST_uc001hxm.2_Non-coding_Transcript|LYST_uc001hxn.1_Missense_Mutation_p.M1I	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.3	56.047942	58.549497	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235993715	235993715	9505	1	C	T	T	T	377	29	LYST	2	2
EDARADD	128178	broad.mit.edu	37	1	236645629	236645629	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236645629C>A	uc001hxu.1	+	c.328C>A	c.(328-330)CCC>ACC	p.P110T	EDARADD_uc001hxv.1_Missense_Mutation_p.P100T	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A	110					cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.25	71.804384	78.61848	30	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236645629	236645629	5093	1	C	A	A	A	286	22	EDARADD	2	2
RYR2	6262	broad.mit.edu	37	1	237656366	237656366	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237656366G>T	uc001hyl.1	+	c.1940G>T	c.(1939-1941)CGT>CTT	p.R647L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	647	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.137255	12.79012	19.283007	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237656366	237656366	14249	1	G	T	T	T	520	40	RYR2	1	1
RYR2	6262	broad.mit.edu	37	1	237780736	237780736	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237780736G>T	uc001hyl.1	+	c.5866G>T	c.(5866-5868)GCA>TCA	p.A1956S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1956	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.258427	57.291527	62.003514	23	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237780736	237780736	14249	1	G	T	T	T	598	46	RYR2	2	2
FMN2	56776	broad.mit.edu	37	1	240371460	240371460	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240371460G>A	uc010pye.1	+	c.3360G>A	c.(3358-3360)GCG>GCA	p.A1120A	FMN2_uc010pyd.1_Silent_p.A1116A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1116	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)						p.PPLPGAGIPPP1280del(SNU119-Tumor)|p.PPLPGAGIPPP1280del(SNU601-Tumor)	1289				0.416667	15.672708	15.745513	5	7	KEEP	---	---	---	---	capture		Silent	SNP	240371460	240371460	6192	1	G	A	A	A	496	39	FMN2	1	1
FH	2271	broad.mit.edu	37	1	241669315	241669315	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241669315C>A	uc001hyx.2	-	c.892G>T	c.(892-894)GCT>TCT	p.A298S		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	298					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)	4	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		Melanoma(148;1573 2486 7381 46575)				119				0.213018	85.85364	98.680601	36	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241669315	241669315	6112	1	C	A	A	A	338	26	FH	2	2
HNRNPU	3192	broad.mit.edu	37	1	245020932	245020932	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245020932G>A	uc001iaz.1	-	c.1582C>T	c.(1582-1584)CTT>TTT	p.L528F	HNRNPU_uc001iaw.1_Non-coding_Transcript|HNRNPU_uc001iax.1_Non-coding_Transcript|HNRNPU_uc001iay.1_Missense_Mutation_p.L252F|HNRNPU_uc001iba.1_Missense_Mutation_p.L509F|HNRNPU_uc001ibb.1_Missense_Mutation_p.L216F	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	528					cell killing|CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			NSCLC(33;911 1010 3329 23631 49995)								0.096852	30.163798	97.450684	40	373	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	245020932	245020932	7565	1	G	A	A	A	429	33	HNRNPU	2	2
OR13G1	441933	broad.mit.edu	37	1	247835530	247835530	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247835530C>A	uc001idi.1	-	c.814G>T	c.(814-816)GCT>TCT	p.A272S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.259459	124.017011	133.709649	48	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247835530	247835530	11348	1	C	A	A	A	364	28	OR13G1	2	2
CSMD2	114784	broad.mit.edu	37	1	34035054	34035054	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34035054G>T	uc001bxm.1	-	c.8051C>A	c.(8050-8052)TCC>TAC	p.S2684Y	CSMD2_uc001bxn.1_Missense_Mutation_p.S2686Y	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2686	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.217391	43.748834	50.525729	20	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34035054	34035054	4086	1	G	T	T	T	533	41	CSMD2	2	2
GJB5	2709	broad.mit.edu	37	1	35223275	35223275	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35223275G>T	uc001bxu.2	+	c.344G>T	c.(343-345)CGC>CTC	p.R115L	GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	115	Cytoplasmic (Potential).				cell communication|epidermis development	connexon complex|integral to membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)												0.323077	181.268042	186.629992	63	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35223275	35223275	6679	1	G	T	T	T	494	38	GJB5	1	1
GJA9	81025	broad.mit.edu	37	1	39341359	39341359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39341359G>A	uc001cct.1	-	c.412C>T	c.(412-414)CAG>TAG	p.Q138*	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	138	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)											0.111842	34.013863	79.285176	34	270	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39341359	39341359	6674	1	G	A	A	A	585	45	GJA9	5	2
TIE1	7075	broad.mit.edu	37	1	43773124	43773124	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43773124G>A	uc001ciu.2	+	c.794G>A	c.(793-795)GGG>GAG	p.G265E	TIE1_uc010okd.1_Missense_Mutation_p.G265E|TIE1_uc010oke.1_Missense_Mutation_p.G220E|TIE1_uc009vwq.2_Missense_Mutation_p.G221E|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Missense_Mutation_p.G265E	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	265	Extracellular (Potential).|EGF-like 2.				mesoderm development|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			stomach(1)|salivary_gland(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)								488				0.20339	26.57317	31.387827	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43773124	43773124	16421	1	G	A	A	A	559	43	TIE1	2	2
LRP8	7804	broad.mit.edu	37	1	53715182	53715182	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53715182C>A	uc001cvi.1	-	c.2723G>T	c.(2722-2724)GGG>GTG	p.G908V	LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Missense_Mutation_p.G738V|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	908	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola|integral to membrane	apolipoprotein E binding|calcium ion binding|very-low-density lipoprotein particle receptor activity				0														0.354839	28.421742	28.99469	11	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53715182	53715182	9336	1	C	A	A	A	286	22	LRP8	2	2
CHD5	26038	broad.mit.edu	37	1	6206463	6206463	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6206463C>A	uc001amb.1	-	c.1611G>T	c.(1609-1611)GTG>GTT	p.V537V	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	537	Chromo 1.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)						2304				0.491525	86.865138	86.868982	29	30	KEEP	---	---	---	---	capture		Silent	SNP	6206463	6206463	3462	1	C	A	A	A	366	29	CHD5	2	2
JAK1	3716	broad.mit.edu	37	1	65332725	65332725	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65332725C>A	uc001dbu.1	-	c.814G>T	c.(814-816)GCT>TCT	p.A272S	JAK1_uc009wam.1_Missense_Mutation_p.A260S	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	272	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(30)|prostate(7)|soft_tissue(6)|lung(4)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	55				BRCA - Breast invasive adenocarcinoma(111;0.0485)						1025				0.142857	71.588465	110.287707	45	270	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65332725	65332725	8241	1	C	A	A	A	338	26	JAK1	2	2
IL12RB2	3595	broad.mit.edu	37	1	67787288	67787288	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67787288C>G	uc001ddu.2	+	c.80C>G	c.(79-81)GCG>GGG	p.A27G	IL12RB2_uc010oqi.1_Missense_Mutation_p.A27G|IL12RB2_uc010oqj.1_Missense_Mutation_p.A27G|IL12RB2_uc010oqk.1_Non-coding_Transcript|IL12RB2_uc010oql.1_Missense_Mutation_p.A27G|IL12RB2_uc010oqm.1_Missense_Mutation_p.A27G|IL12RB2_uc010oqn.1_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	27	Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3														0.317949	199.086308	204.828248	62	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67787288	67787288	7928	1	C	G	G	G	351	27	IL12RB2	3	3
LRRC7	57554	broad.mit.edu	37	1	70225969	70225969	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70225969G>C	uc001dep.2	+	c.82G>C	c.(82-84)GAT>CAT	p.D28H	LRRC7_uc001deo.1_Missense_Mutation_p.D66H|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	28	LRR 1.					centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.111111	16.181766	29.638329	10	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70225969	70225969	9396	1	G	C	C	C	429	33	LRRC7	3	3
CAMTA1	23261	broad.mit.edu	37	1	7811344	7811344	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7811344A>G	uc001aoi.2	+	c.4775A>G	c.(4774-4776)CAG>CGG	p.Q1592R	CAMTA1_uc001aok.3_Missense_Mutation_p.Q635R|CAMTA1_uc001aoj.2_Missense_Mutation_p.Q555R|CAMTA1_uc009vmf.2_Missense_Mutation_p.Q182R	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1592	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)										0.391003	363.607329	366.614995	113	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7811344	7811344	2730	1	A	G	G	G	91	7	CAMTA1	4	4
NEXN	91624	broad.mit.edu	37	1	78399075	78399075	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78399075G>A	uc001dic.3	+	c.1162G>A	c.(1162-1164)GAA>AAA	p.E388K	NEXN_uc001dia.3_Missense_Mutation_p.E374K|NEXN_uc009wcb.1_Missense_Mutation_p.E310K|NEXN_uc001dib.3_Missense_Mutation_p.E324K|NEXN_uc001did.1_Missense_Mutation_p.E298K|NEXN_uc001dif.1_Missense_Mutation_p.E280K|NEXN_uc001dig.3_Missense_Mutation_p.E29K	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	388	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)										0.166667	19.107978	25.433334	10	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78399075	78399075	10755	1	G	A	A	A	429	33	NEXN	2	2
CLCA1	1179	broad.mit.edu	37	1	86934763	86934763	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86934763G>T	uc001dlt.2	+	c.109G>T	c.(109-111)GTT>TTT	p.V37F	CLCA1_uc001dls.1_Missense_Mutation_p.V37F	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	37					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)										0.126582	30.590482	52.093384	20	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86934763	86934763	3593	1	G	T	T	T	520	40	CLCA1	1	1
CST4	1472	broad.mit.edu	37	20	23669590	23669590	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23669590C>G	uc002wto.1	-	c.17G>C	c.(16-18)TGT>TCT	p.C6S		NM_001899	NP_001890	P01036	CYTS_HUMAN	cystatin S precursor	6						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)	1	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)													0.155172	20.635087	27.224099	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23669590	23669590	4115	20	C	G	G	G	221	17	CST4	3	3
EPB41L1	2036	broad.mit.edu	37	20	34776397	34776397	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34776397C>G	uc002xfb.2	+	c.1002C>G	c.(1000-1002)TTC>TTG	p.F334L	EPB41L1_uc002xeu.2_Missense_Mutation_p.F272L|EPB41L1_uc010zvo.1_Missense_Mutation_p.F334L|EPB41L1_uc002xev.2_Missense_Mutation_p.F334L|EPB41L1_uc002xew.2_Missense_Mutation_p.F237L|EPB41L1_uc002xex.2_Missense_Mutation_p.F303L|EPB41L1_uc002xey.2_Missense_Mutation_p.F261L|EPB41L1_uc002xez.2_Missense_Mutation_p.F272L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	334	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)													0.142857	17.255599	24.98055	9	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34776397	34776397	5345	20	C	G	G	G	415	32	EPB41L1	3	3
PTPRT	11122	broad.mit.edu	37	20	40733211	40733211	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40733211G>T	uc010ggj.2	-	c.3595C>A	c.(3595-3597)CAG>AAG	p.Q1199K	PTPRT_uc002xkg.2_Missense_Mutation_p.Q1180K|PTPRT_uc010ggi.2_Missense_Mutation_p.Q383K	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1180	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.241176	101.576866	111.9786	41	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40733211	40733211	13270	20	G	T	T	T	585	45	PTPRT	2	2
PTPRT	11122	broad.mit.edu	37	20	41076865	41076866	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:41076865_41076866AG>TT	uc010ggj.2	-	c.1554_1555CT>AA	c.(1552-1557)CTCTAC>CTAAAC	p.Y519N	PTPRT_uc002xkg.2_Missense_Mutation_p.Y519N	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	519	Extracellular (Potential).|Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.28	270.49263	285.731718	98	252	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	41076865	41076866	13270	20	AG	TT	TT	TT	195	15	PTPRT	3	3
PTPRT	11122	broad.mit.edu	37	20	41101120	41101120	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:41101120G>T	uc010ggj.2	-	c.1236C>A	c.(1234-1236)TAC>TAA	p.Y412*	PTPRT_uc002xkg.2_Nonsense_Mutation_p.Y412*	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	412	Extracellular (Potential).|Fibronectin type-III 2.		Y -> F (in a colorectal cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)							p.Y412Y(SNUC5-Tumor)	646				0.378378	43.745386	44.223955	14	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41101120	41101120	13270	20	G	T	T	T	516	40	PTPRT	5	1
TP53RK	112858	broad.mit.edu	37	20	45315857	45315857	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45315857T>A	uc002xsk.2	-	c.297A>T	c.(295-297)CCA>CCT	p.P99P	SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_Missense_Mutation_p.Q101L	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	p53-related protein kinase	99	Protein kinase.				lipopolysaccharide biosynthetic process|protein phosphorylation	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Myeloproliferative disorder(115;0.0122)								20				0.28932	432.748248	453.190161	149	366	KEEP	---	---	---	---	capture		Silent	SNP	45315857	45315857	16932	20	T	A	A	A	704	55	TP53RK	3	3
CYP24A1	1591	broad.mit.edu	37	20	52779269	52779269	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52779269G>T	uc002xwv.2	-	c.977C>A	c.(976-978)GCT>GAT	p.A326D	CYP24A1_uc002xwu.1_Missense_Mutation_p.A184D|CYP24A1_uc002xww.2_Missense_Mutation_p.A326D	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	326					hormone biosynthetic process|osteoblast differentiation|oxidation-reduction process|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			ovary(1)|lung(1)	2	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)					1427				0.258929	73.634125	79.523272	29	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52779269	52779269	4319	20	G	T	T	T	442	34	CYP24A1	2	2
CTCFL	140690	broad.mit.edu	37	20	56099141	56099141	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56099141G>T	uc010giw.1	-	c.121C>A	c.(121-123)CAT>AAT	p.H41N	CTCFL_uc010gix.1_Missense_Mutation_p.H41N|CTCFL_uc002xym.2_Missense_Mutation_p.H41N|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.H41N|CTCFL_uc010gjb.1_Missense_Mutation_p.H41N|CTCFL_uc010gjc.1_Missense_Mutation_p.H41N|CTCFL_uc010gjd.1_Missense_Mutation_p.H41N|CTCFL_uc010gje.2_Missense_Mutation_p.H41N|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.H41N|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.H41N|CTCFL_uc010gjk.1_Missense_Mutation_p.H41N|CTCFL_uc010gjl.1_Missense_Mutation_p.H41N	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	41					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of gene expression|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|promoter binding|transcription activator activity|zinc ion binding			ovary(2)|large_intestine(1)	3	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)											0.24581	335.526738	367.128868	132	405	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56099141	56099141	4160	20	G	T	T	T	611	47	CTCFL	2	2
NPEPL1	79716	broad.mit.edu	37	20	57269554	57269554	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57269554C>A	uc010zzs.1	+	c.413C>A	c.(412-414)TCA>TAA	p.S138*	NPEPL1_uc010zzr.1_Nonsense_Mutation_p.S90*|NPEPL1_uc002xzn.2_Non-coding_Transcript|NPEPL1_uc010gjo.1_Nonsense_Mutation_p.S110*|NPEPL1_uc002xzp.2_Nonsense_Mutation_p.S26*	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	138					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)											0.269231	53.034881	56.78729	21	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57269554	57269554	10978	20	C	A	A	A	377	29	NPEPL1	5	2
TUBB1	81027	broad.mit.edu	37	20	57599325	57599325	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57599325C>A	uc002yak.2	+	c.843C>A	c.(841-843)TAC>TAA	p.Y281*		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	281					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)									0.333333	30.008589	30.823121	11	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57599325	57599325	17308	20	C	A	A	A	233	18	TUBB1	5	2
CHGB	1114	broad.mit.edu	37	20	5903918	5903918	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5903918G>C	uc002wmg.2	+	c.1128G>C	c.(1126-1128)CAG>CAC	p.Q376H	CHGB_uc010zqz.1_Missense_Mutation_p.Q59H	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	376						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.110048	37.46291	68.915755	23	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5903918	5903918	3473	20	G	C	C	C	425	33	CHGB	3	3
PSMA7	5688	broad.mit.edu	37	20	60713265	60713265	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60713265C>A	uc002ybx.1	-	c.553G>T	c.(553-555)GAT>TAT	p.D185Y	PSMA7_uc002yby.1_Non-coding_Transcript	NM_002792	NP_002783	O14818	PSA7_HUMAN	proteasome alpha 7 subunit	185					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)											0.235294	48.753011	54.202707	20	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60713265	60713265	13125	20	C	A	A	A	377	29	PSMA7	2	2
NTSR1	4923	broad.mit.edu	37	20	61340877	61340877	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61340877C>A	uc002ydf.2	+	c.318C>A	c.(316-318)GGC>GGA	p.G106G		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	106	Helical; Name=2; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GBM(37;400 780 6403 19663 35669)				297				0.298246	45.649857	47.725628	17	40	KEEP	---	---	---	---	capture		Silent	SNP	61340877	61340877	11115	20	C	A	A	A	314	25	NTSR1	2	2
PLCB4	5332	broad.mit.edu	37	20	9364988	9364988	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9364988C>T	uc002wne.2	+	c.994C>T	c.(994-996)CTC>TTC	p.L332F	PLCB4_uc010gbw.1_Missense_Mutation_p.L332F|PLCB4_uc010gbx.2_Missense_Mutation_p.L332F|PLCB4_uc002wnf.2_Missense_Mutation_p.L332F|PLCB4_uc002wnh.2_Missense_Mutation_p.L179F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform a	332	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			ovary(3)|pancreas(1)|skin(1)	5														0.258503	104.476372	112.24686	38	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9364988	9364988	12456	20	C	T	T	T	416	32	PLCB4	2	2
PAK7	57144	broad.mit.edu	37	20	9546888	9546888	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9546888G>T	uc002wnl.2	-	c.1134C>A	c.(1132-1134)CAC>CAA	p.H378Q	PAK7_uc002wnk.2_Missense_Mutation_p.H378Q|PAK7_uc002wnj.2_Missense_Mutation_p.H378Q|PAK7_uc010gby.1_Missense_Mutation_p.H378Q	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	378	Linker.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(7)|skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	15			COAD - Colon adenocarcinoma(9;0.194)							177				0.276364	210.896083	223.268511	76	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9546888	9546888	11821	20	G	T	T	T	620	48	PAK7	2	2
TPTE	7179	broad.mit.edu	37	21	10934954	10934954	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10934954C>A	uc002yip.1	-	c.839G>T	c.(838-840)CGA>CTA	p.R280L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R262L|TPTE_uc002yir.1_Missense_Mutation_p.R242L|TPTE_uc010gkv.1_Missense_Mutation_p.R142L	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	280	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.204762	102.714639	119.694772	43	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10934954	10934954	16974	21	C	A	A	A	403	31	TPTE	1	1
ADAMTS1	9510	broad.mit.edu	37	21	28214865	28214866	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28214865_28214866GG>TT	uc002ymf.2	-	c.869_870CC>AA	c.(868-870)GCC>GAA	p.A290E		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	290	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)										0.444444	109.088833	109.306637	36	45	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	28214865	28214866	256	21	GG	TT	TT	TT	600	47	ADAMTS1	2	2
CHAF1B	8208	broad.mit.edu	37	21	37775118	37775118	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37775118C>T	uc002yvj.2	+	c.726C>T	c.(724-726)TTC>TTT	p.F242F		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	242	WD 5.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin assembly complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)	1														0.439024	415.85188	416.913829	144	184	KEEP	---	---	---	---	capture		Silent	SNP	37775118	37775118	3446	21	C	T	T	T	376	29	CHAF1B	2	2
DSCAM	1826	broad.mit.edu	37	21	41667981	41667981	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41667981C>A	uc002yyq.1	-	c.2182_splice	c.e10+1	p.G728_splice	DSCAM_uc002yyr.1_Splice_Site_SNP	NM_001389	NP_001380			Down syndrome cell adhesion molecule isoform						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.363636	111.972995	113.592773	36	63	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	41667981	41667981	4952	21	C	A	A	A	234	18	DSCAM	5	2
TMPRSS2	7113	broad.mit.edu	37	21	42861483	42861483	+	Silent	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42861483C>G	uc010gor.2	-	c.387G>C	c.(385-387)GGG>GGC	p.G129G	TMPRSS2_uc002yzj.2_Silent_p.G92G|TMPRSS2_uc010gos.1_Silent_p.G92G	NM_001135099	NP_001128571	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 1	92	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2058)|TMPRSS2/ETV1(24)	prostate(2082)|central_nervous_system(1)	2083		Prostate(19;4.48e-07)|all_epithelial(19;0.031)								848				0.418182	72.670725	73.000151	23	32	KEEP	---	---	---	---	capture		Silent	SNP	42861483	42861483	16788	21	C	G	G	G	379	30	TMPRSS2	3	3
SIK1	150094	broad.mit.edu	37	21	44838254	44838254	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:44838254C>A	uc002zdf.2	-	c.1630G>T	c.(1630-1632)GGG>TGG	p.G544W		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	544					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|protein phosphorylation|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7										671				0.324324	32.187637	33.200866	12	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44838254	44838254	14812	21	C	A	A	A	286	22	SIK1	2	2
RNF185	91445	broad.mit.edu	37	22	31597539	31597539	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31597539G>T	uc003akb.2	+	c.419G>T	c.(418-420)GGG>GTG	p.G140V	RNF185_uc010gwh.2_Non-coding_Transcript|RNF185_uc011alm.1_Missense_Mutation_p.G78V|RNF185_uc003akc.2_Missense_Mutation_p.G78V|RNF185_uc003ake.2_Missense_Mutation_p.G84V	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	ring finger protein 185 isoform 1	140	Helical; (Potential).					integral to membrane	zinc ion binding				0														0.44	365.20992	366.076136	121	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31597539	31597539	13945	22	G	T	T	T	559	43	RNF185	2	2
SEPT3	55964	broad.mit.edu	37	22	42377700	42377700	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42377700C>A	uc003bbr.3	+	c.62C>A	c.(61-63)CCC>CAC	p.P21H	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.P21H|SEPT3_uc010gyr.2_Intron|SEPT3_uc011apj.1_Intron|SEPT3_uc010gys.2_5'UTR	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	21					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0										112				0.416667	58.301816	58.589781	20	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42377700	42377700	14551	22	C	A	A	A	286	22	SEPT3	2	2
TTC38	55020	broad.mit.edu	37	22	46684477	46684477	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46684477C>T	uc003bhi.2	+	c.1074C>T	c.(1072-1074)GAC>GAT	p.D358D	TTC38_uc011aqx.1_Silent_p.D300D	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	358							binding			ovary(1)	1														0.227273	49.187251	55.171273	20	68	KEEP	---	---	---	---	capture		Silent	SNP	46684477	46684477	17261	22	C	T	T	T	246	19	TTC38	1	1
TUBGCP6	85378	broad.mit.edu	37	22	50656678	50656678	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50656678A>G	uc003bkb.1	-	c.5108T>C	c.(5107-5109)GTG>GCG	p.V1703A	TUBGCP6_uc003bka.1_Silent_p.R779R|TUBGCP6_uc010har.1_Missense_Mutation_p.V1695A|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1703					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)										0.385965	62.229905	62.881477	22	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50656678	50656678	17325	22	A	G	G	G	78	6	TUBGCP6	4	4
LMF2	91289	broad.mit.edu	37	22	50943086	50943086	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50943086C>A	uc003blp.2	-	c.1508G>T	c.(1507-1509)CGC>CTC	p.R503L	LMF2_uc010hba.2_Missense_Mutation_p.R325L|LMF2_uc003blo.2_Missense_Mutation_p.R478L	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	503						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)										0.3	24.666119	25.736639	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50943086	50943086	9175	22	C	A	A	A	351	27	LMF2	1	1
GCC2	9648	broad.mit.edu	37	2	109086647	109086647	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:109086647G>A	uc002tec.2	+	c.862G>A	c.(862-864)GAA>AAA	p.E288K	GCC2_uc002ted.2_Missense_Mutation_p.E187K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	288	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1														0.232558	118.353176	132.42696	50	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109086647	109086647	6552	2	G	A	A	A	585	45	GCC2	2	2
IL1F10	84639	broad.mit.edu	37	2	113832767	113832767	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113832767G>A	uc002tiu.2	+	c.285G>A	c.(283-285)GAG>GAA	p.E95E	IL1F10_uc002tiv.2_Silent_p.E95E|IL1F10_uc002tiw.2_Silent_p.E87E	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	95						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1														0.145251	97.40141	140.707988	52	306	KEEP	---	---	---	---	capture		Silent	SNP	113832767	113832767	7953	2	G	A	A	A	451	35	IL1F10	2	2
UGGT1	56886	broad.mit.edu	37	2	128870688	128870688	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128870688C>T	uc002tps.2	+	c.552C>T	c.(550-552)CAC>CAT	p.H184H	UGGT1_uc010fme.1_Silent_p.H59H|UGGT1_uc002tpr.2_Silent_p.H160H	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	184					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.1	24.920929	87.274327	39	351	KEEP	---	---	---	---	capture		Silent	SNP	128870688	128870688	17499	2	C	T	T	T	220	17	UGGT1	2	2
POTEF	728378	broad.mit.edu	37	2	130877729	130877729	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130877729C>A	uc010fmh.2	-	c.360G>T	c.(358-360)TGG>TGT	p.W120C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	120						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.201923	48.817066	57.401621	21	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130877729	130877729	12695	2	C	A	A	A	286	22	POTEF	2	2
GPR39	2863	broad.mit.edu	37	2	133174633	133174633	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133174633C>T	uc002ttl.2	+	c.18C>T	c.(16-18)CTC>CTT	p.L6L		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	6	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0														0.195402	38.33406	45.852634	17	70	KEEP	---	---	---	---	capture		Silent	SNP	133174633	133174633	6968	2	C	T	T	T	379	30	GPR39	2	2
MGAT5	4249	broad.mit.edu	37	2	135076304	135076304	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135076304C>T	uc002ttv.1	+	c.567C>T	c.(565-567)CTC>CTT	p.L189L		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	189	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0964)										0.203488	73.727105	87.769097	35	137	KEEP	---	---	---	---	capture		Silent	SNP	135076304	135076304	9938	2	C	T	T	T	366	29	MGAT5	2	2
YSK4	80122	broad.mit.edu	37	2	135744679	135744679	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135744679G>T	uc002tue.1	-	c.1763C>A	c.(1762-1764)CCC>CAC	p.P588H	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P475H|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P316H|YSK4_uc002tui.3_Missense_Mutation_p.P605H	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	588					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)						411				0.215447	126.646821	145.026356	53	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135744679	135744679	18078	2	G	T	T	T	559	43	YSK4	2	2
MCM6	4175	broad.mit.edu	37	2	136633878	136633878	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136633878C>A	uc002tuw.2	-	c.58G>T	c.(58-60)GAC>TAC	p.D20Y		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	20					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	Ovarian(196;141 2104 8848 24991 25939)								0.3125	12.869113	13.36992	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136633878	136633878	9780	2	C	A	A	A	403	31	MCM6	1	1
LRP1B	53353	broad.mit.edu	37	2	141665495	141665495	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141665495G>T	uc002tvj.1	-	c.3471C>A	c.(3469-3471)TGC>TGA	p.C1157*	LRP1B_uc010fnl.1_Nonsense_Mutation_p.C339*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1157	Extracellular (Potential).|LDL-receptor class A 10.				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)			0.124	44.337044	78.90433	31	219	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	141665495	141665495	9328	2	G	T	T	T	594	46	LRP1B	5	2
GTDC1	79712	broad.mit.edu	37	2	144714835	144714835	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:144714835C>A	uc002tvp.2	-	c.1057G>T	c.(1057-1059)GAC>TAC	p.D353Y	GTDC1_uc002tvo.2_Intron|GTDC1_uc002tvq.2_Missense_Mutation_p.D235Y|GTDC1_uc002tvr.2_Intron|GTDC1_uc010fnn.2_Missense_Mutation_p.D353Y|GTDC1_uc002tvs.2_Missense_Mutation_p.D321Y|GTDC1_uc010fno.2_Missense_Mutation_p.D224Y	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	353					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)										0.162791	25.697543	34.991561	14	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144714835	144714835	7131	2	C	A	A	A	377	29	GTDC1	2	2
RIF1	55183	broad.mit.edu	37	2	152317652	152317652	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152317652C>G	uc002txm.2	+	c.3076C>G	c.(3076-3078)CTG>GTG	p.L1026V	RIF1_uc002txl.2_Missense_Mutation_p.L1026V|RIF1_uc002txn.2_Missense_Mutation_p.L1026V|RIF1_uc002txo.2_Missense_Mutation_p.L1026V|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1026					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12				BRCA - Breast invasive adenocarcinoma(221;0.0429)						950				0.126984	32.205355	49.309104	16	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152317652	152317652	13834	2	C	G	G	G	363	28	RIF1	3	3
CCDC148	130940	broad.mit.edu	37	2	159196804	159196804	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:159196804G>T	uc002tzq.2	-	c.436C>A	c.(436-438)CAG>AAG	p.Q146K	CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.Q93K|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Missense_Mutation_p.Q60K|CCDC148_uc002tzs.1_Missense_Mutation_p.Q146K	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	146										ovary(2)	2														0.17037	49.434693	63.313856	23	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159196804	159196804	2902	2	G	T	T	T	598	46	CCDC148	2	2
SCN3A	6328	broad.mit.edu	37	2	165952085	165952085	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165952085G>T	uc002ucx.2	-	c.4367C>A	c.(4366-4368)TCA>TAA	p.S1456*	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Nonsense_Mutation_p.S1407*|SCN3A_uc002ucz.2_Nonsense_Mutation_p.S1407*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1456	Helical; Name=S6 of repeat III; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.140187	23.459251	36.829601	15	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	165952085	165952085	14400	2	G	T	T	T	585	45	SCN3A	5	2
XIRP2	129446	broad.mit.edu	37	2	168099835	168099835	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168099835G>A	uc002udx.2	+	c.1933G>A	c.(1933-1935)GAG>AAG	p.E645K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E470K|XIRP2_uc010fpq.2_Missense_Mutation_p.E423K|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	470					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.239437	39.937236	44.339912	17	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168099835	168099835	18011	2	G	A	A	A	585	45	XIRP2	2	2
PXDN	7837	broad.mit.edu	37	2	1691403	1691403	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1691403C>A	uc002qxa.2	-	c.416_splice	c.e4+1	p.L139_splice	PXDN_uc002qxb.1_Splice_Site_SNP_p.L139_splice|PXDN_uc002qxc.1_Intron	NM_012293	NP_036425			peroxidasin precursor						extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)						2093				0.47619	32.850798	32.860974	10	11	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	1691403	1691403	13305	2	C	A	A	A	221	17	PXDN	5	2
PPIG	9360	broad.mit.edu	37	2	170493101	170493101	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170493101G>T	uc002uez.2	+	c.1333G>T	c.(1333-1335)GAT>TAT	p.D445Y	PPIG_uc010fpx.2_Missense_Mutation_p.D430Y|PPIG_uc010fpy.2_Missense_Mutation_p.D438Y|PPIG_uc002ufb.2_Missense_Mutation_p.D445Y|PPIG_uc002ufd.2_Missense_Mutation_p.D442Y	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	445					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)									0.258065	17.783874	19.429774	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170493101	170493101	12759	2	G	T	T	T	429	33	PPIG	2	2
GAD1	2571	broad.mit.edu	37	2	171700608	171700608	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171700608A>T	uc002ugi.2	+	c.692A>T	c.(691-693)AAG>ATG	p.K231M		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	231					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.230769	60.746428	67.654012	24	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171700608	171700608	6430	2	A	T	T	T	39	3	GAD1	3	3
TTN	7273	broad.mit.edu	37	2	179428592	179428592	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179428592C>T	uc010zfg.1	-	c.74563G>A	c.(74563-74565)GAG>AAG	p.E24855K	TTN_uc010zfh.1_Missense_Mutation_p.E18550K|TTN_uc010zfi.1_Missense_Mutation_p.E18483K|TTN_uc010zfj.1_Missense_Mutation_p.E18358K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2583										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				0.1625	48.239949	65.574214	26	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179428592	179428592	17290	2	C	T	T	T	377	29	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179435906	179435906	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179435906C>A	uc010zfg.1	-	c.67249G>T	c.(67249-67251)GCA>TCA	p.A22417S	TTN_uc010zfh.1_Missense_Mutation_p.A16112S|TTN_uc010zfi.1_Missense_Mutation_p.A16045S|TTN_uc010zfj.1_Missense_Mutation_p.A15920S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2927										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				0.155844	42.806062	60.219457	24	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179435906	179435906	17290	2	C	A	A	A	325	25	TTN	2	2
MSGN1	343930	broad.mit.edu	37	2	17998016	17998016	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17998016G>T	uc010yjt.1	+	c.231G>T	c.(229-231)GGG>GGT	p.G77G		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	77					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					Melanoma(127;325 1712 14802 40657 49130)								0.156627	24.424047	33.761312	13	70	KEEP	---	---	---	---	capture		Silent	SNP	17998016	17998016	10262	2	G	T	T	T	548	43	MSGN1	2	2
ZNF804A	91752	broad.mit.edu	37	2	185803511	185803511	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185803511C>A	uc002uph.2	+	c.3388C>A	c.(3388-3390)CAG>AAG	p.Q1130K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1130						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.184466	44.761764	54.38114	19	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185803511	185803511	18768	2	C	A	A	A	221	17	ZNF804A	2	2
ITGAV	3685	broad.mit.edu	37	2	187506203	187506203	+	Silent	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187506203A>G	uc002upq.2	+	c.1047A>G	c.(1045-1047)CTA>CTG	p.L349L	ITGAV_uc010frs.2_Silent_p.L313L|ITGAV_uc010zfv.1_Silent_p.L303L	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	349	FG-GAP 5.|Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		Melanoma(58;108 1995 6081)				606				0.150685	73.744402	99.337458	33	186	KEEP	---	---	---	---	capture		Silent	SNP	187506203	187506203	8192	2	A	G	G	G	171	14	ITGAV	4	4
PLCL1	5334	broad.mit.edu	37	2	198949706	198949706	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198949706C>T	uc010fsp.2	+	c.1465C>T	c.(1465-1467)CTT>TTT	p.L489F	PLCL1_uc002uuv.3_Missense_Mutation_p.L410F	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	489	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.152778	21.377569	29.683215	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198949706	198949706	12465	2	C	T	T	T	416	32	PLCL1	2	2
CASP10	843	broad.mit.edu	37	2	202074065	202074065	+	Nonsense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202074065C>T	uc002uxj.1	+	c.1195C>T	c.(1195-1197)CAG>TAG	p.Q399*	CASP10_uc002uxk.1_Nonsense_Mutation_p.Q356*|CASP10_uc010fta.1_Nonsense_Mutation_p.Q332*|CASP10_uc002uxl.1_Nonsense_Mutation_p.Q399*|CASP10_uc002uxm.1_Nonsense_Mutation_p.Q356*|CASP10_uc010ftb.1_Non-coding_Transcript	NM_032977	NP_116759	Q92851	CASPA_HUMAN	caspase 10 isoform d preproprotein	399					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)	5										219				0.243902	52.658662	57.559928	20	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	202074065	202074065	2788	2	C	T	T	T	273	21	CASP10	5	2
ZDBF2	57683	broad.mit.edu	37	2	207172542	207172542	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207172542G>T	uc002vbp.2	+	c.3290G>T	c.(3289-3291)TGG>TTG	p.W1097L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1097	Potential.						nucleic acid binding|zinc ion binding			ovary(3)	3														0.2	24.890582	29.49673	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207172542	207172542	18187	2	G	T	T	T	611	47	ZDBF2	2	2
MAP2	4133	broad.mit.edu	37	2	210558138	210558138	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210558138T>A	uc002vde.1	+	c.1244T>A	c.(1243-1245)ATA>AAA	p.I415K	MAP2_uc002vdc.1_Missense_Mutation_p.I415K|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.I411K	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	415					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|large_intestine(2)|pancreas(2)|central_nervous_system(1)	14		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	Pancreas(27;423 979 28787 29963)								0.162791	27.79647	37.090801	14	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210558138	210558138	9618	2	T	A	A	A	637	49	MAP2	3	3
APOB	338	broad.mit.edu	37	2	21234718	21234718	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21234718C>G	uc002red.2	-	c.5022G>C	c.(5020-5022)GAG>GAC	p.E1674D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1674					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)									0.192771	35.988941	43.399573	16	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21234718	21234718	796	2	C	G	G	G	363	28	APOB	3	3
VWC2L	402117	broad.mit.edu	37	2	215301400	215301400	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215301400C>A	uc002vet.2	+	c.438C>A	c.(436-438)CAC>CAA	p.H146Q	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	146	VWFC 2.					extracellular region					0														0.195122	33.534405	40.670048	16	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215301400	215301400	17815	2	C	A	A	A	259	20	VWC2L	2	2
SMARCAL1	50485	broad.mit.edu	37	2	217340026	217340026	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217340026C>T	uc002vgc.3	+	c.2279C>T	c.(2278-2280)TCA>TTA	p.S760L	SMARCAL1_uc010fvf.2_Non-coding_Transcript|SMARCAL1_uc002vgd.3_Missense_Mutation_p.S760L|SMARCAL1_uc010fvg.2_Missense_Mutation_p.S738L	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	760	Helicase C-terminal.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)										0.191919	39.683331	48.450138	19	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	217340026	217340026	15271	2	C	T	T	T	377	29	SMARCAL1	2	2
CXCR1	3577	broad.mit.edu	37	2	219029412	219029412	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219029412G>A	uc002vhc.2	-	c.523C>T	c.(523-525)CGC>TGC	p.R175C		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	175	Extracellular (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity				0										31				0.195652	21.848395	25.82005	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219029412	219029412	4250	2	G	A	A	A	507	39	CXCR1	1	1
SLC4A3	6508	broad.mit.edu	37	2	220500015	220500015	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220500015A>T	uc002vmo.3	+	c.1850A>T	c.(1849-1851)CAG>CTG	p.Q617L	SLC4A3_uc002vmp.3_Missense_Mutation_p.Q590L|SLC4A3_uc010fwm.2_Missense_Mutation_p.Q140L|SLC4A3_uc010fwn.1_Missense_Mutation_p.Q99L	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	590	Cytoplasmic.			Q -> K (in Ref. 3; AAN34939).	bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(1)|breast(1)	2		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.230769	29.275411	32.728127	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220500015	220500015	15152	2	A	T	T	T	91	7	SLC4A3	3	3
DOCK10	55619	broad.mit.edu	37	2	225695309	225695309	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225695309T>A	uc010fwz.1	-	c.2985A>T	c.(2983-2985)GCA>GCT	p.A995A	DOCK10_uc002vob.2_Silent_p.A989A	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	995							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.266667	10.192977	10.930833	4	11	KEEP	---	---	---	---	capture		Silent	SNP	225695309	225695309	4869	2	T	A	A	A	808	63	DOCK10	3	3
SP100	6672	broad.mit.edu	37	2	231331929	231331929	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231331929G>T	uc002vqu.1	+	c.1290G>T	c.(1288-1290)AAG>AAT	p.K430N	SP100_uc002vqs.2_Missense_Mutation_p.K430N|SP100_uc002vqt.2_Missense_Mutation_p.K430N|SP100_uc002vqq.1_Missense_Mutation_p.K430N|SP100_uc002vqr.1_Missense_Mutation_p.K405N|SP100_uc010zmc.1_Intron|SP100_uc002vqv.1_Missense_Mutation_p.K394N	NM_001080391	NP_001073860	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 1	430					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon|retinoic acid receptor signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|general transcriptional repressor activity|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.K430K(1)		ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)										0.156716	40.785472	55.856557	21	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231331929	231331929	15460	2	G	T	T	T	451	35	SP100	2	2
UGT1A5	54579	broad.mit.edu	37	2	234676909	234676909	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234676909T>A	uc002vuw.2	+	c.1131T>A	c.(1129-1131)CAT>CAA	p.H377Q	UGT1A8_uc010zmv.1_Missense_Mutation_p.H373Q|UGT1A8_uc002vup.2_Missense_Mutation_p.H373Q|UGT1A10_uc002vuq.3_Missense_Mutation_p.H373Q|UGT1A10_uc002vur.2_Missense_Mutation_p.H373Q|UGT1A9_uc010zmw.1_Missense_Mutation_p.H373Q|UGT1A9_uc002vus.2_Missense_Mutation_p.H373Q|UGT1A7_uc010zmx.1_Missense_Mutation_p.H373Q|UGT1A7_uc002vut.2_Missense_Mutation_p.H373Q|UGT1A6_uc002vuu.2_Missense_Mutation_p.H108Q|UGT1A6_uc010zmy.1_Missense_Mutation_p.H375Q|UGT1A6_uc002vuv.3_Missense_Mutation_p.H375Q|UGT1A5_uc010zmz.1_Missense_Mutation_p.H377Q|UGT1A4_uc010zna.1_Missense_Mutation_p.H377Q|UGT1A4_uc002vux.2_Missense_Mutation_p.H377Q|UGT1A3_uc010znb.1_Missense_Mutation_p.H377Q|UGT1A3_uc002vuy.2_Missense_Mutation_p.H377Q|UGT1A9_uc002vva.2_Non-coding_Transcript|UGT1A1_uc010znc.1_Missense_Mutation_p.H376Q|UGT1A1_uc002vvb.2_Missense_Mutation_p.H376Q	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	377					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)										0.166667	49.909159	65.079407	24	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234676909	234676909	17506	2	T	A	A	A	660	51	UGT1A5	3	3
TRAF3IP1	26146	broad.mit.edu	37	2	239234561	239234561	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239234561G>A	uc002vye.2	+	c.304G>A	c.(304-306)GAA>AAA	p.E102K	TRAF3IP1_uc002vyf.2_Missense_Mutation_p.E102K	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	102	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)										0.3	30.288785	31.716055	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	239234561	239234561	16984	2	G	A	A	A	585	45	TRAF3IP1	2	2
HADHB	3032	broad.mit.edu	37	2	26502035	26502035	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26502035G>T	uc002rgz.2	+	c.663G>T	c.(661-663)GAG>GAT	p.E221D	HADHB_uc010ykv.1_Missense_Mutation_p.E199D|HADHB_uc010ykw.1_Missense_Mutation_p.E206D|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Missense_Mutation_p.E147D	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	221					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.142857	33.823371	53.611112	23	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26502035	26502035	7226	2	G	T	T	T	425	33	HADHB	2	2
ACP1	52	broad.mit.edu	37	2	272282	272282	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:272282C>T	uc002qwg.2	+	c.208C>T	c.(208-210)CAC>TAC	p.H70Y	ACP1_uc002qwd.2_3'UTR|ACP1_uc002qwe.3_Non-coding_Transcript|ACP1_uc002qwh.2_Non-coding_Transcript|ACP1_uc002qwf.2_Intron	NM_007099	NP_009030	P24666	PPAC_HUMAN	acid phosphatase 1, soluble isoform b	70						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity				0	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)										0.339623	45.180679	46.41159	18	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	272282	272282	163	2	C	T	T	T	377	29	ACP1	2	2
BIRC6	57448	broad.mit.edu	37	2	32626377	32626377	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32626377G>A	uc010ezu.2	+	c.1181G>A	c.(1180-1182)GGG>GAG	p.G394E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	394					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				0.158209	99.044922	136.388036	53	282	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32626377	32626377	1463	2	G	A	A	A	559	43	BIRC6	2	2
LTBP1	4052	broad.mit.edu	37	2	33500061	33500061	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33500061C>A	uc002ros.2	+	c.2776C>A	c.(2776-2778)CTC>ATC	p.L926I	LTBP1_uc002rot.2_Missense_Mutation_p.L600I|LTBP1_uc002rou.2_Missense_Mutation_p.L599I|LTBP1_uc002rov.2_Missense_Mutation_p.L546I|LTBP1_uc010ymz.1_Missense_Mutation_p.L599I|LTBP1_uc010yna.1_Missense_Mutation_p.L546I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	925	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.26087	122.816099	132.340148	48	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33500061	33500061	9449	2	C	A	A	A	312	24	LTBP1	2	2
PPM1B	5495	broad.mit.edu	37	2	44428764	44428764	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44428764G>C	uc002rtt.2	+	c.426G>C	c.(424-426)AAG>AAC	p.K142N	PPM1B_uc002rts.2_Missense_Mutation_p.K142N|PPM1B_uc002rtu.2_Missense_Mutation_p.K142N|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.K142N|PPM1B_uc002rtx.2_Missense_Mutation_p.K142N	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	142					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.302198	174.974775	181.321042	55	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44428764	44428764	12771	2	G	C	C	C	438	34	PPM1B	3	3
SLC3A1	6519	broad.mit.edu	37	2	44547563	44547563	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44547563C>T	uc002ruc.3	+	c.1843C>T	c.(1843-1845)CCC>TCC	p.P615S	PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Missense_Mutation_p.P337S|SLC3A1_uc002rue.3_Missense_Mutation_p.P235S	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	615	Extracellular (Potential).		P -> T (in CSNU1).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)									0.309353	118.004384	122.489498	43	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44547563	44547563	15123	2	C	T	T	T	390	30	SLC3A1	2	2
CLEC4F	165530	broad.mit.edu	37	2	71043138	71043138	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71043138G>C	uc002shf.2	-	c.1375C>G	c.(1375-1377)CAA>GAA	p.Q459E	CLEC4F_uc010yqv.1_Missense_Mutation_p.Q459E	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	459	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						Colon(107;10 2157 6841 26035)								0.137615	33.146647	46.994173	15	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71043138	71043138	3654	2	G	C	C	C	624	48	CLEC4F	3	3
MPHOSPH10	10199	broad.mit.edu	37	2	71376433	71376433	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71376433A>T	uc002sht.1	+	c.1746A>T	c.(1744-1746)AAA>AAT	p.K582N		NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	582	Potential.				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			ovary(1)	1														0.375	34.892555	35.331311	12	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71376433	71376433	10117	2	A	T	T	T	50	4	MPHOSPH10	3	3
DYSF	8291	broad.mit.edu	37	2	71801371	71801371	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71801371C>A	uc010fen.2	+	c.3272C>A	c.(3271-3273)TCT>TAT	p.S1091Y	DYSF_uc010feg.2_Missense_Mutation_p.S1104Y|DYSF_uc010feh.2_Missense_Mutation_p.S1059Y|DYSF_uc002sig.3_Missense_Mutation_p.S1059Y|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Missense_Mutation_p.S1073Y|DYSF_uc010fef.2_Missense_Mutation_p.S1090Y|DYSF_uc002sie.2_Missense_Mutation_p.S1073Y|DYSF_uc010fei.2_Missense_Mutation_p.S1090Y|DYSF_uc010fek.2_Missense_Mutation_p.S1091Y|DYSF_uc010fej.2_Missense_Mutation_p.S1060Y|DYSF_uc010fel.2_Missense_Mutation_p.S1060Y|DYSF_uc010feo.2_Missense_Mutation_p.S1105Y|DYSF_uc010fem.2_Missense_Mutation_p.S1074Y|DYSF_uc002sif.2_Missense_Mutation_p.S1074Y|DYSF_uc010yqy.1_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	1073	Cytoplasmic (Potential).|Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.13	16.606907	29.929434	13	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71801371	71801371	5045	2	C	A	A	A	416	32	DYSF	2	2
NAT8B	51471	broad.mit.edu	37	2	73928090	73928090	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73928090C>G	uc002sjk.1	-	c.343G>C	c.(343-345)GAA>CAA	p.E115Q		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	N-acetyltransferase 8B	115	N-acetyltransferase.				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity				0														0.150442	37.896834	51.13086	17	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73928090	73928090	10576	2	C	G	G	G	377	29	NAT8B	3	3
C2orf78	388960	broad.mit.edu	37	2	74041303	74041303	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74041303G>T	uc002sjr.1	+	c.797G>T	c.(796-798)GGG>GTG	p.G266V		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	266										ovary(2)	2														0.13089	35.439268	60.748569	25	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74041303	74041303	2285	2	G	T	T	T	559	43	C2orf78	2	2
CTNNA2	1496	broad.mit.edu	37	2	80816440	80816440	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80816440G>T	uc010ysh.1	+	c.2019G>T	c.(2017-2019)GCG>GCT	p.A673A	CTNNA2_uc010yse.1_Silent_p.A673A|CTNNA2_uc010ysf.1_Silent_p.A673A|CTNNA2_uc010ysg.1_Silent_p.A673A|CTNNA2_uc010ysi.1_Silent_p.A305A|CTNNA2_uc010ysj.1_Silent_p.A2A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	673					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8									p.A674A(SNU407-Tumor)	489				0.288136	50.552724	52.926094	17	42	KEEP	---	---	---	---	capture		Silent	SNP	80816440	80816440	4172	2	G	T	T	T	483	38	CTNNA2	1	1
USP39	10713	broad.mit.edu	37	2	85875930	85875930	+	Nonstop_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85875930G>C	uc002sqe.2	+	c.1697G>C	c.(1696-1698)TGA>TCA	p.*566S	USP39_uc002sqb.2_Nonstop_Mutation_p.*297S|USP39_uc010ysu.1_Nonstop_Mutation_p.*488S|USP39_uc010ysv.1_Nonstop_Mutation_p.*463S|USP39_uc002sqf.2_Nonstop_Mutation_p.*537S|USP39_uc002sqg.2_Nonstop_Mutation_p.*566S|USP39_uc010fgo.2_3'UTR	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	566					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding				0												OREG0014749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.268371	272.15619	287.316073	84	229	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	85875930	85875930	17634	2	G	C	C	C	581	45	USP39	5	3
C2orf51	200523	broad.mit.edu	37	2	88828700	88828700	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88828700C>A	uc002stb.1	+	c.251C>A	c.(250-252)CCC>CAC	p.P84H		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	84						nucleus					0														0.124138	23.357039	43.38574	18	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88828700	88828700	2261	2	C	A	A	A	286	22	C2orf51	2	2
FAM55C	91775	broad.mit.edu	37	3	101520220	101520220	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101520220G>T	uc003dvn.2	+	c.235G>T	c.(235-237)GAC>TAC	p.D79Y	FAM55C_uc010hpn.2_Missense_Mutation_p.D79Y	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	79						extracellular region				ovary(1)|pancreas(1)	2														0.333333	167.046713	171.876172	65	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101520220	101520220	5808	3	G	T	T	T	533	41	FAM55C	2	2
SLC9A10	285335	broad.mit.edu	37	3	111950283	111950283	+	Silent	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111950283A>G	uc003dyu.2	-	c.1497T>C	c.(1495-1497)TGT>TGC	p.C499C	SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Silent_p.C451C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	499					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5														0.273973	62.234179	65.622708	20	53	KEEP	---	---	---	---	capture		Silent	SNP	111950283	111950283	15207	3	A	G	G	G	180	14	SLC9A10	4	4
CCDC80	151887	broad.mit.edu	37	3	112326064	112326064	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112326064C>A	uc003dzf.2	-	c.2465G>T	c.(2464-2466)GGA>GTA	p.G822V	CCDC80_uc011bhv.1_Intron|CCDC80_uc003dzg.2_Missense_Mutation_p.G822V|CCDC80_uc003dzh.1_Missense_Mutation_p.G822V	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	822										ovary(2)	2														0.168224	32.777781	43.939711	18	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112326064	112326064	2978	3	C	A	A	A	390	30	CCDC80	2	2
RABL3	285282	broad.mit.edu	37	3	120449566	120449566	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120449566C>A	uc003edx.2	-	c.115G>T	c.(115-117)GTG>TTG	p.V39L		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	39	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding				0				GBM - Glioblastoma multiforme(114;0.151)										0.268293	125.92459	133.874094	44	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120449566	120449566	13431	3	C	A	A	A	221	17	RABL3	2	2
STXBP5L	9515	broad.mit.edu	37	3	121100283	121100283	+	Missense_Mutation	SNP	G	T	T	rs17740066	byFrequency;by1000genomes	TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121100283G>T	uc003eec.3	+	c.2563G>T	c.(2563-2565)GTT>TTT	p.V855F	STXBP5L_uc011bji.1_Missense_Mutation_p.V831F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	855	WD 11.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.279503	270.121111	284.192402	90	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121100283	121100283	15877	3	G	T	T	T	520	40	STXBP5L	1	1
MYLK	4638	broad.mit.edu	37	3	123444857	123444857	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123444857G>T	uc003ego.2	-	c.1585C>A	c.(1585-1587)CAG>AAG	p.Q529K	MYLK_uc011bjw.1_Missense_Mutation_p.Q529K|MYLK_uc003egp.2_Missense_Mutation_p.Q460K|MYLK_uc003egq.2_Missense_Mutation_p.Q529K|MYLK_uc003egr.2_Missense_Mutation_p.Q460K|MYLK_uc003egs.2_Missense_Mutation_p.Q353K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	529	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)						766				0.25	30.375059	33.103407	12	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123444857	123444857	10451	3	G	T	T	T	611	47	MYLK	2	2
KALRN	8997	broad.mit.edu	37	3	123813744	123813744	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123813744G>A	uc003ehg.2	+	c.60G>A	c.(58-60)CTG>CTA	p.L20L	KALRN_uc003ehd.2_Intron|KALRN_uc003ehe.2_Non-coding_Transcript|KALRN_uc010hru.1_Non-coding_Transcript|KALRN_uc010hrv.1_Silent_p.L20L|KALRN_uc010hrw.1_Non-coding_Transcript|KALRN_uc003ehf.1_Silent_p.L20L|KALRN_uc011bjy.1_Silent_p.L20L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	20					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				0.12	13.020441	23.646587	9	66	KEEP	---	---	---	---	capture		Silent	SNP	123813744	123813744	8279	3	G	A	A	A	600	47	KALRN	2	2
KALRN	8997	broad.mit.edu	37	3	123987731	123987731	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123987731G>T	uc003ehg.2	+	c.592G>T	c.(592-594)GTG>TTG	p.V198L	KALRN_uc010hrv.1_Missense_Mutation_p.V198L|KALRN_uc003ehf.1_Missense_Mutation_p.V198L|KALRN_uc011bjy.1_Missense_Mutation_p.V198L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	198	Spectrin 1.				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				0.381818	63.161241	63.835156	21	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123987731	123987731	8279	3	G	T	T	T	520	40	KALRN	1	1
COPG	22820	broad.mit.edu	37	3	128984617	128984617	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128984617C>A	uc003els.2	+	c.1450C>A	c.(1450-1452)CAT>AAT	p.H484N	COPG_uc010htb.2_Missense_Mutation_p.H390N	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	484					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4														0.140845	16.198748	25.040006	10	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128984617	128984617	3869	3	C	A	A	A	325	25	COPG	2	2
IQSEC1	9922	broad.mit.edu	37	3	12949849	12949849	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12949849C>A	uc011auw.1	-	c.2755G>T	c.(2755-2757)GGG>TGG	p.G919W	IQSEC1_uc003bxt.2_Missense_Mutation_p.G933W|IQSEC1_uc003bxu.3_Missense_Mutation_p.G811W	NM_001134382	NP_001127854	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform a	933					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1														0.333333	20.81964	21.335434	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12949849	12949849	8120	3	C	A	A	A	299	23	IQSEC1	1	1
EPHB1	2047	broad.mit.edu	37	3	134920428	134920428	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134920428G>A	uc003eqt.2	+	c.2243G>A	c.(2242-2244)AGG>AAG	p.R748K	EPHB1_uc003equ.2_Missense_Mutation_p.R309K	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	748	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.171674	91.453281	115.191839	40	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134920428	134920428	5367	3	G	A	A	A	455	35	EPHB1	2	2
CLSTN2	64084	broad.mit.edu	37	3	140282979	140282979	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140282979C>T	uc003etn.2	+	c.2659C>T	c.(2659-2661)CCC>TCC	p.P887S		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	887	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.25	71.789425	77.913969	27	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140282979	140282979	3700	3	C	T	T	T	286	22	CLSTN2	2	2
CLSTN2	64084	broad.mit.edu	37	3	140285095	140285095	+	Nonstop_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140285095G>T	uc003etn.2	+	c.2868G>T	c.(2866-2868)TAG>TAT	p.*956Y		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	956					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.4	12.79783	12.885354	4	6	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	140285095	140285095	3700	3	G	T	T	T	464	36	CLSTN2	5	2
GRK7	131890	broad.mit.edu	37	3	141497180	141497180	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141497180G>T	uc011bnd.1	+	c.54G>T	c.(52-54)CAG>CAT	p.Q18H		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	18					protein phosphorylation|visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|ovary(1)|skin(1)	4										174				0.304878	68.240922	71.027871	25	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141497180	141497180	7073	3	G	T	T	T	451	35	GRK7	2	2
MED12L	116931	broad.mit.edu	37	3	150840700	150840700	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:150840700C>A	uc003eyp.2	+	c.335C>A	c.(334-336)GCA>GAA	p.A112E	MED12L_uc011bnz.1_Missense_Mutation_p.A112E|MED12L_uc003eym.1_Missense_Mutation_p.A112E|MED12L_uc003eyn.2_Missense_Mutation_p.A112E|MED12L_uc003eyo.2_Missense_Mutation_p.A112E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	112					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.186441	24.618326	30.031486	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150840700	150840700	9818	3	C	A	A	A	325	25	MED12L	2	2
GPR149	344758	broad.mit.edu	37	3	154146868	154146868	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154146868G>A	uc003faa.2	-	c.537C>T	c.(535-537)CCC>CCT	p.P179P		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	179	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.210526	19.113635	22.034344	8	30	KEEP	---	---	---	---	capture		Silent	SNP	154146868	154146868	6929	3	G	A	A	A	444	35	GPR149	2	2
GMPS	8833	broad.mit.edu	37	3	155655474	155655474	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155655474G>T	uc003faq.2	+	c.2075G>T	c.(2074-2076)TGG>TTG	p.W692L	GMPS_uc011bom.1_Missense_Mutation_p.W593L	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	692					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Ovarian(153;896 1876 4149 15499 28134)				552				0.37234	108.701851	110.04728	35	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155655474	155655474	6767	3	G	T	T	T	611	47	GMPS	2	2
SI	6476	broad.mit.edu	37	3	164748524	164748524	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164748524T>A	uc003fei.2	-	c.2868A>T	c.(2866-2868)ACA>ACT	p.T956T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	956	Lumenal.|P-type 2.|Isomaltase.				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)									0.241803	163.311738	178.140383	59	185	KEEP	---	---	---	---	capture		Silent	SNP	164748524	164748524	14792	3	T	A	A	A	756	59	SI	3	3
RFTN1	23180	broad.mit.edu	37	3	16475526	16475526	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:16475526G>A	uc003cay.2	-	c.164C>T	c.(163-165)TCA>TTA	p.S55L	RFTN1_uc010hes.2_Missense_Mutation_p.S19L	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	55						plasma membrane				ovary(3)|central_nervous_system(1)	4														0.166667	9.854637	13.016194	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16475526	16475526	13730	3	G	A	A	A	585	45	RFTN1	2	2
GOLIM4	27333	broad.mit.edu	37	3	167745577	167745577	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167745577C>A	uc011bpe.1	-	c.1565G>T	c.(1564-1566)GGT>GTT	p.G522V	GOLIM4_uc003ffe.2_Missense_Mutation_p.G521V|GOLIM4_uc011bpf.1_Missense_Mutation_p.G494V|GOLIM4_uc011bpg.1_Missense_Mutation_p.G493V	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	521	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)	4														0.284047	193.977799	204.734151	73	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167745577	167745577	6839	3	C	A	A	A	234	18	GOLIM4	2	2
GOLIM4	27333	broad.mit.edu	37	3	167745622	167745622	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167745622T>C	uc011bpe.1	-	c.1520A>G	c.(1519-1521)TAT>TGT	p.Y507C	GOLIM4_uc003ffe.2_Missense_Mutation_p.Y506C|GOLIM4_uc011bpf.1_Missense_Mutation_p.Y479C|GOLIM4_uc011bpg.1_Missense_Mutation_p.Y478C	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	506	Glu-rich.|Gln-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)	4														0.14554	72.293676	98.019258	31	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167745622	167745622	6839	3	T	C	C	C	637	49	GOLIM4	4	4
PLD1	5337	broad.mit.edu	37	3	171426594	171426594	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:171426594C>G	uc003fhs.2	-	c.1096G>C	c.(1096-1098)GCA>CCA	p.A366P	PLD1_uc003fht.2_Missense_Mutation_p.A366P	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	366					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)	2	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	NSCLC(149;2174 3517 34058)				595				0.203008	76.949552	87.84166	27	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171426594	171426594	12471	3	C	G	G	G	338	26	PLD1	3	3
TTC14	151613	broad.mit.edu	37	3	180322691	180322691	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180322691G>C	uc003fkk.2	+	c.753G>C	c.(751-753)ATG>ATC	p.M251I	TTC14_uc003fkl.2_Missense_Mutation_p.M251I|TTC14_uc003fkm.2_Missense_Mutation_p.M251I	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	251							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.295238	102.28295	106.221567	31	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180322691	180322691	17235	3	G	C	C	C	598	46	TTC14	3	3
EPHB3	2049	broad.mit.edu	37	3	184298540	184298540	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184298540G>T	uc003foz.2	+	c.2412G>T	c.(2410-2412)TGG>TGT	p.W804C		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	804	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(2)|breast(2)|ovary(1)|skin(1)	6	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)							292				0.378378	76.777527	77.739528	28	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184298540	184298540	5369	3	G	T	T	T	533	41	EPHB3	2	2
ZNF385D	79750	broad.mit.edu	37	3	21478546	21478546	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:21478546C>A	uc003cce.2	-	c.589G>T	c.(589-591)GAA>TAA	p.E197*	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	197						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(1)	3														0.305556	139.843982	145.922674	55	125	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21478546	21478546	18470	3	C	A	A	A	390	30	ZNF385D	5	2
DCLK3	85443	broad.mit.edu	37	3	36779850	36779850	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36779850C>A	uc003cgi.2	-	c.301G>T	c.(301-303)GAG>TAG	p.E101*		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	101					protein phosphorylation	cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|ovary(1)|breast(1)|kidney(1)	8										128				0.252066	142.263429	155.774894	61	181	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36779850	36779850	4464	3	C	A	A	A	390	30	DCLK3	5	2
LRRFIP2	9209	broad.mit.edu	37	3	37107382	37107382	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37107382G>A	uc003cgp.2	-	c.1618C>T	c.(1618-1620)CAT>TAT	p.H540Y	LRRFIP2_uc011ayf.1_Missense_Mutation_p.H322Y|LRRFIP2_uc003cgr.2_Missense_Mutation_p.H243Y|LRRFIP2_uc003cgs.3_Missense_Mutation_p.H243Y|LRRFIP2_uc003cgt.3_Missense_Mutation_p.H219Y	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	540					Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1														0.154545	29.800135	42.350308	17	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37107382	37107382	9404	3	G	A	A	A	585	45	LRRFIP2	2	2
SCN10A	6336	broad.mit.edu	37	3	38835299	38835299	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38835299C>A	uc003ciq.2	-	c.203G>T	c.(202-204)GGT>GTT	p.G68V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	68					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.230769	132.638167	148.17506	54	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38835299	38835299	14394	3	C	A	A	A	234	18	SCN10A	2	2
SCN11A	11280	broad.mit.edu	37	3	38951598	38951598	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38951598G>T	uc011ays.1	-	c.1060C>A	c.(1060-1062)CGG>AGG	p.R354R		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	354	I.				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)									0.289157	70.172941	73.476607	24	59	KEEP	---	---	---	---	capture		Silent	SNP	38951598	38951598	14395	3	G	T	T	T	506	39	SCN11A	1	1
MYRIP	25924	broad.mit.edu	37	3	40192632	40192632	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:40192632C>A	uc003cka.2	+	c.426C>A	c.(424-426)TAC>TAA	p.Y142*	MYRIP_uc010hhu.2_Non-coding_Transcript|MYRIP_uc010hhv.2_Nonsense_Mutation_p.Y142*|MYRIP_uc010hhw.2_Intron|MYRIP_uc010hhx.1_Nonsense_Mutation_p.Y142*|MYRIP_uc011ayz.1_5'UTR	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	142					intracellular protein transport		actin binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)										0.25	13.664958	14.801384	5	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40192632	40192632	10495	3	C	A	A	A	220	17	MYRIP	5	2
ZNF167	55888	broad.mit.edu	37	3	44611518	44611518	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44611518C>T	uc010hin.2	+	c.916C>T	c.(916-918)CCT>TCT	p.P306S	ZNF167_uc003cnh.2_Non-coding_Transcript|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.P155S|ZNF167_uc003cnj.2_Missense_Mutation_p.P306S|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	306	KRAB.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		Esophageal Squamous(121;907 1626 38429 48584 52774)								0.199203	109.914187	131.045787	50	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44611518	44611518	18332	3	C	T	T	T	390	30	ZNF167	2	2
COL7A1	1294	broad.mit.edu	37	3	48630049	48630049	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48630049G>A	uc003ctz.2	-	c.930C>T	c.(928-930)CTC>CTT	p.L310L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	310	Nonhelical region (NC1).|Fibronectin type-III 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.171053	29.231731	37.003469	13	63	KEEP	---	---	---	---	capture		Silent	SNP	48630049	48630049	3842	3	G	A	A	A	418	33	COL7A1	2	2
PARP3	10039	broad.mit.edu	37	3	51978185	51978185	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51978185C>A	uc003dbz.2	+	c.285C>A	c.(283-285)CTC>CTA	p.L95L	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dby.2_Silent_p.L88L	NM_001003931	NP_001003931	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	88					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)										0.3	168.312103	176.209944	66	154	KEEP	---	---	---	---	capture		Silent	SNP	51978185	51978185	11879	3	C	A	A	A	379	30	PARP3	2	2
STAB1	23166	broad.mit.edu	37	3	52536690	52536690	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52536690G>T	uc003dej.2	+	c.530G>T	c.(529-531)GGG>GTG	p.G177V	STAB1_uc003dei.1_Missense_Mutation_p.G177V	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	177	EGF-like 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.2	19.350126	23.116588	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52536690	52536690	15755	3	G	T	T	T	559	43	STAB1	2	2
FLNB	2317	broad.mit.edu	37	3	58154384	58154384	+	Silent	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58154384A>T	uc010hne.2	+	c.7509A>T	c.(7507-7509)ACA>ACT	p.T2503T	FLNB_uc003djj.2_Silent_p.T2472T|FLNB_uc003djk.2_Silent_p.T2461T|FLNB_uc010hnf.2_Silent_p.T2448T|FLNB_uc003djl.2_Silent_p.T2292T|FLNB_uc003djm.2_Silent_p.T2279T	NM_001164317	NP_001157789	O75369	FLNB_HUMAN	filamin B isoform 1	2472	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(6)|ovary(3)	9				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)						676				0.25641	27.232414	29.330041	10	29	KEEP	---	---	---	---	capture		Silent	SNP	58154384	58154384	6176	3	A	T	T	T	80	7	FLNB	3	3
PXK	54899	broad.mit.edu	37	3	58368428	58368428	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58368428G>T	uc003djz.1	+	c.388_splice	c.e4+1	p.E130_splice	PXK_uc003djx.1_Splice_Site_SNP_p.E130_splice|PXK_uc003djy.1_Splice_Site_SNP_p.E113_splice|PXK_uc003dka.1_Splice_Site_SNP_p.E130_splice|PXK_uc003dkb.1_Splice_Site_SNP_p.E47_splice|PXK_uc003dkc.1_Splice_Site_SNP_p.E113_splice|PXK_uc011bfe.1_Splice_Site_SNP_p.E97_splice|PXK_uc010hnj.1_Splice_Site_SNP_p.E97_splice|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_Splice_Site_SNP	NM_017771	NP_060241			PX domain containing serine/threonine kinase						cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|protein phosphorylation|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)						508				0.162791	46.389214	60.332717	21	108	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	58368428	58368428	13307	3	G	T	T	T	572	44	PXK	5	2
CADPS	8618	broad.mit.edu	37	3	62636555	62636555	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:62636555G>T	uc003dll.2	-	c.1170C>A	c.(1168-1170)TCC>TCA	p.S390S	CADPS_uc003dlm.2_Silent_p.S390S|CADPS_uc003dln.2_Silent_p.S390S	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	390					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)										0.146341	30.065409	44.855805	18	105	KEEP	---	---	---	---	capture		Silent	SNP	62636555	62636555	2686	3	G	T	T	T	600	47	CADPS	2	2
ROBO1	6091	broad.mit.edu	37	3	78763638	78763638	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:78763638C>A	uc003dqe.2	-	c.954G>T	c.(952-954)AGG>AGT	p.R318S	ROBO1_uc003dqb.2_Missense_Mutation_p.R279S|ROBO1_uc003dqc.2_Missense_Mutation_p.R279S|ROBO1_uc003dqd.2_Missense_Mutation_p.R279S|ROBO1_uc003dqf.1_5'UTR	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	318	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			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				0.174603	19.179613	25.482444	11	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78763638	78763638	13992	3	C	A	A	A	389	30	ROBO1	2	2
HS3ST1	9957	broad.mit.edu	37	4	11400898	11400898	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:11400898C>T	uc003gmq.2	-	c.732G>A	c.(730-732)TCG>TCA	p.S244S		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	244						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity				0														0.123077	9.960191	18.993304	8	57	KEEP	---	---	---	---	capture		Silent	SNP	11400898	11400898	7657	4	C	T	T	T	392	31	HS3ST1	1	1
NDST4	64579	broad.mit.edu	37	4	115997446	115997446	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115997446G>T	uc003ibu.2	-	c.747C>A	c.(745-747)AGC>AGA	p.S249R	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	249	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.473913	340.851103	340.987868	109	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115997446	115997446	10657	4	G	T	T	T	594	46	NDST4	2	2
ZNF827	152485	broad.mit.edu	37	4	146806894	146806894	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146806894C>A	uc003ikn.2	-	c.1683G>T	c.(1681-1683)GCG>GCT	p.A561A	ZNF827_uc003ikm.2_Silent_p.A561A|ZNF827_uc010iox.2_Silent_p.A211A	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)													0.495575	190.304495	190.306311	56	57	KEEP	---	---	---	---	capture		Silent	SNP	146806894	146806894	18779	4	C	A	A	A	236	19	ZNF827	1	1
SLC10A7	84068	broad.mit.edu	37	4	147438205	147438205	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147438205T>A	uc010ioz.2	-	c.168A>T	c.(166-168)CTA>CTT	p.L56L	SLC10A7_uc003ikr.2_Silent_p.L56L|SLC10A7_uc010ipa.2_Silent_p.L56L|SLC10A7_uc003iks.2_Non-coding_Transcript|SLC10A7_uc003ikt.2_Silent_p.L56L|SLC10A7_uc003iku.3_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	56	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)													0.422091	687.768285	690.452261	214	293	KEEP	---	---	---	---	capture		Silent	SNP	147438205	147438205	14874	4	T	A	A	A	626	49	SLC10A7	3	3
ARFIP1	27236	broad.mit.edu	37	4	153803943	153803943	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153803943C>A	uc003imz.2	+	c.702C>A	c.(700-702)GCC>GCA	p.A234A	ARFIP1_uc003inb.2_Silent_p.A202A|ARFIP1_uc003ina.2_Silent_p.A202A|ARFIP1_uc003inc.2_Silent_p.A234A|ARFIP1_uc011cij.1_Silent_p.A54A	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	234	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane				ovary(1)	1	all_hematologic(180;0.093)													0.517857	186.046794	186.077567	58	54	KEEP	---	---	---	---	capture		Silent	SNP	153803943	153803943	865	4	C	A	A	A	262	21	ARFIP1	2	2
TKTL2	84076	broad.mit.edu	37	4	164394038	164394038	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164394038C>A	uc003iqp.3	-	c.849G>T	c.(847-849)CAG>CAT	p.Q283H		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	283						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.427208	526.641166	528.581305	179	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164394038	164394038	16465	4	C	A	A	A	415	32	TKTL2	2	2
MARCH1	55016	broad.mit.edu	37	4	164534479	164534479	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164534479G>T	uc003iqs.1	-	c.229C>A	c.(229-231)CAG>AAG	p.Q77K	MARCH1_uc003iqr.1_Missense_Mutation_p.Q60K	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	77	RING-CH-type.					cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.481132	159.693621	159.727583	51	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164534479	164534479	9681	4	G	T	T	T	585	45	MARCH1	2	2
CLCN3	1182	broad.mit.edu	37	4	170634343	170634343	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170634343C>G	uc003ish.2	+	c.2263C>G	c.(2263-2265)CTT>GTT	p.L755V	CLCN3_uc003isi.2_Missense_Mutation_p.L755V|CLCN3_uc011cjz.1_Missense_Mutation_p.L738V|CLCN3_uc011cka.1_Missense_Mutation_p.L728V|CLCN3_uc003isj.1_Missense_Mutation_p.L728V	NM_173872	NP_776297	P51790	CLCN3_HUMAN	chloride channel 3 isoform e	755	CBS 2.|Cytoplasmic (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)										0.140625	38.864229	54.81653	18	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170634343	170634343	3600	4	C	G	G	G	416	32	CLCN3	3	3
TRIML1	339976	broad.mit.edu	37	4	189061773	189061773	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189061773G>T	uc003izm.1	+	c.500G>T	c.(499-501)TGC>TTC	p.C167F		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	167					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		Melanoma(31;213 1036 16579 23968 32372)								0.352113	71.682725	73.039179	25	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189061773	189061773	17100	4	G	T	T	T	598	46	TRIML1	2	2
SULT1B1	27284	broad.mit.edu	37	4	70599131	70599131	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70599131C>A	uc003hen.2	-	c.597G>T	c.(595-597)GAG>GAT	p.E199D		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	199	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0														0.317269	224.530423	231.925777	79	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70599131	70599131	15896	4	C	A	A	A	311	24	SULT1B1	2	2
WDFY3	23001	broad.mit.edu	37	4	85701425	85701425	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85701425C>G	uc003hpd.2	-	c.4201G>C	c.(4201-4203)GTT>CTT	p.V1401L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1401						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.345865	154.107959	156.898814	46	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85701425	85701425	17842	4	C	G	G	G	221	17	WDFY3	3	3
SLC2A9	56606	broad.mit.edu	37	4	9982270	9982270	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9982270G>C	uc003gmc.2	-	c.627C>G	c.(625-627)ATC>ATG	p.I209M	SLC2A9_uc003gmd.2_Missense_Mutation_p.I180M	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	209	Helical; Name=5; (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3														0.265625	49.342774	52.521852	17	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9982270	9982270	15049	4	G	C	C	C	421	33	SLC2A9	3	3
HSD17B4	3295	broad.mit.edu	37	5	118824886	118824886	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118824886G>T	uc003ksj.2	+	c.623_splice	c.e9-1	p.D208_splice	HSD17B4_uc011cwg.1_Splice_Site_SNP_p.D184_splice|HSD17B4_uc011cwh.1_Splice_Site_SNP_p.D190_splice|HSD17B4_uc011cwi.1_Splice_Site_SNP_p.D233_splice|HSD17B4_uc003ksk.3_Splice_Site_SNP_p.D61_splice|HSD17B4_uc011cwj.1_Splice_Site_SNP_p.D61_splice|HSD17B4_uc010jcn.1_Splice_Site_SNP	NM_000414	NP_000405			hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	Colon(35;490 801 34689 41394 43344)								0.174825	50.380033	64.650016	25	118	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118824886	118824886	7681	5	G	T	T	T	429	33	HSD17B4	5	2
SLC6A19	340024	broad.mit.edu	37	5	1221988	1221988	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1221988C>T	uc003jbw.3	+	c.1874C>T	c.(1873-1875)ACA>ATA	p.T625I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	625	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)											0.25641	23.428833	25.529397	10	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1221988	1221988	15179	5	C	T	T	T	221	17	SLC6A19	2	2
P4HA2	8974	broad.mit.edu	37	5	131544999	131544999	+	Silent	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:131544999C>G	uc003kwh.2	-	c.735G>C	c.(733-735)GGG>GGC	p.G245G	P4HA2_uc003kwg.2_Silent_p.G245G|P4HA2_uc003kwi.2_Silent_p.G245G|P4HA2_uc003kwk.2_Silent_p.G245G|P4HA2_uc003kwl.2_Silent_p.G245G|P4HA2_uc003kwj.2_Silent_p.G245G	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	245					oxidation-reduction process	endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	Esophageal Squamous(68;117 1135 17362 19256 34242)								0.135593	75.51116	113.412821	40	255	KEEP	---	---	---	---	capture		Silent	SNP	131544999	131544999	11770	5	C	G	G	G	379	30	P4HA2	3	3
GDF9	2661	broad.mit.edu	37	5	132199862	132199862	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:132199862G>A	uc003kxz.1	-	c.364C>T	c.(364-366)CGG>TGG	p.R122W	GDF9_uc011cxj.1_Missense_Mutation_p.R34W|UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	122					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.116129	23.837628	46.318705	18	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132199862	132199862	6587	5	G	A	A	A	506	39	GDF9	1	1
PCDHA9	9752	broad.mit.edu	37	5	140230312	140230312	+	Silent	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140230312G>C	uc003lhu.2	+	c.2232G>C	c.(2230-2232)GCG>GCC	p.A744A	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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A744A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	744	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(55;1800 1972 14909)								0.169014	27.460812	34.819574	12	59	KEEP	---	---	---	---	capture		Silent	SNP	140230312	140230312	11951	5	G	C	C	C	496	39	PCDHA9	3	3
PCDHA11	56138	broad.mit.edu	37	5	140248772	140248772	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140248772C>A	uc003lia.2	+	c.84C>A	c.(82-84)AGC>AGA	p.S28R	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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.S28R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	28					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.220588	35.289798	40.177428	15	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140248772	140248772	11941	5	C	A	A	A	350	27	PCDHA11	1	1
PCDHA11	56138	broad.mit.edu	37	5	140250061	140250061	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140250061A>T	uc003lia.2	+	c.1373A>T	c.(1372-1374)GAG>GTG	p.E458V	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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.E458V	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	458	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.196262	41.605987	50.818138	21	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140250061	140250061	11941	5	A	T	T	T	143	11	PCDHA11	3	3
PCDHB8	56128	broad.mit.edu	37	5	140559862	140559862	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559862C>A	uc011dai.1	+	c.2247C>A	c.(2245-2247)AAC>AAA	p.N749K	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	749	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.134921	28.48221	44.76597	17	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140559862	140559862	11968	5	C	A	A	A	259	20	PCDHB8	2	2
PCDHB9	56127	broad.mit.edu	37	5	140568793	140568793	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140568793C>A	uc003liw.1	+	c.1902C>A	c.(1900-1902)GAC>GAA	p.D634E		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	634	Extracellular (Potential).|Cadherin 6.				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)											0.323529	32.614565	33.553745	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140568793	140568793	11969	5	C	A	A	A	247	19	PCDHB9	1	1
PCDHB11	56125	broad.mit.edu	37	5	140580418	140580418	+	Silent	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140580418A>T	uc003liy.2	+	c.1071A>T	c.(1069-1071)CCA>CCT	p.P357P	PCDHB11_uc011daj.1_5'UTR	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	357	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)											0.164474	52.986907	69.226619	25	127	KEEP	---	---	---	---	capture		Silent	SNP	140580418	140580418	11956	5	A	T	T	T	80	7	PCDHB11	3	3
PCDHB13	56123	broad.mit.edu	37	5	140594856	140594856	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140594856G>T	uc003lja.1	+	c.1161G>T	c.(1159-1161)CAG>CAT	p.Q387H		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	387	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.253623	91.259106	98.862901	35	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140594856	140594856	11958	5	G	T	T	T	451	35	PCDHB13	2	2
PCDHGA2	56113	broad.mit.edu	37	5	140720932	140720932	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140720932C>A	uc003ljk.1	+	c.2394C>A	c.(2392-2394)CTC>CTA	p.L798L	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.L798L|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	798	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.173554	42.413078	54.578437	21	100	KEEP	---	---	---	---	capture		Silent	SNP	140720932	140720932	11974	5	C	A	A	A	392	31	PCDHGA2	1	1
PCDHGB5	56101	broad.mit.edu	37	5	140779511	140779511	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140779511A>T	uc003lkf.1	+	c.1817A>T	c.(1816-1818)CAG>CTG	p.Q606L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.Q606L	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	606	Cadherin 6.|Extracellular (Potential).				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)											0.171429	11.928234	15.500275	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140779511	140779511	11986	5	A	T	T	T	91	7	PCDHGB5	3	3
ARAP3	64411	broad.mit.edu	37	5	141059692	141059692	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141059692C>A	uc003llm.2	-	c.362G>T	c.(361-363)GGG>GTG	p.G121V	ARAP3_uc003lln.2_Missense_Mutation_p.G43V|ARAP3_uc003llo.1_Missense_Mutation_p.G121V	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	121	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7														0.151376	56.545348	81.831276	33	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141059692	141059692	851	5	C	A	A	A	286	22	ARAP3	2	2
PPP2R2B	5521	broad.mit.edu	37	5	146070760	146070760	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:146070760C>T	uc011dbv.1	-	c.552G>A	c.(550-552)AGG>AGA	p.R184R	PPP2R2B_uc003loe.2_Silent_p.R126R|PPP2R2B_uc010jgm.2_Silent_p.R115R|PPP2R2B_uc003log.3_Silent_p.R126R|PPP2R2B_uc003lof.3_Silent_p.R126R|PPP2R2B_uc003loi.3_Silent_p.R129R|PPP2R2B_uc003loh.3_Silent_p.R126R|PPP2R2B_uc003loj.3_Silent_p.R106R|PPP2R2B_uc003lok.3_Silent_p.R115R|PPP2R2B_uc011dbu.1_Silent_p.R132R	NM_181675	NP_858061	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	126	WD 2.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.235294	48.184775	53.614968	20	65	KEEP	---	---	---	---	capture		Silent	SNP	146070760	146070760	12821	5	C	T	T	T	337	26	PPP2R2B	2	2
TIMD4	91937	broad.mit.edu	37	5	156381592	156381592	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156381592T>A	uc003lwh.2	-	c.234A>T	c.(232-234)TCA>TCT	p.S78S	TIMD4_uc010jii.2_Silent_p.S78S	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	78	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.15534	30.834265	42.520294	16	87	KEEP	---	---	---	---	capture		Silent	SNP	156381592	156381592	16432	5	T	A	A	A	808	63	TIMD4	3	3
FAM71B	153745	broad.mit.edu	37	5	156589540	156589540	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156589540C>T	uc003lwn.2	-	c.1736G>A	c.(1735-1737)GGT>GAT	p.G579D		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	579						nucleus				ovary(3)|pancreas(1)	4	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.180915	180.267579	228.305471	91	412	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156589540	156589540	5831	5	C	T	T	T	234	18	FAM71B	2	2
SLIT3	6586	broad.mit.edu	37	5	168180939	168180939	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168180939T>G	uc010jjg.2	-	c.1759A>C	c.(1759-1761)ATG>CTG	p.M587L	SLIT3_uc003mab.2_Missense_Mutation_p.M587L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	587	LRR 14.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.225	24.754489	27.532949	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168180939	168180939	15239	5	T	G	G	G	650	50	SLIT3	4	4
CDH18	1016	broad.mit.edu	37	5	19473730	19473730	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19473730C>A	uc003jgc.2	-	c.1978G>T	c.(1978-1980)GAT>TAT	p.D660Y	CDH18_uc003jgd.2_Missense_Mutation_p.D660Y|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	660	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)													0.16129	87.146872	120.997222	50	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19473730	19473730	3232	5	C	A	A	A	377	29	CDH18	2	2
NIPBL	25836	broad.mit.edu	37	5	36986345	36986345	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36986345G>T	uc003jkl.3	+	c.3063G>T	c.(3061-3063)GAG>GAT	p.E1021D	NIPBL_uc003jkk.3_Missense_Mutation_p.E1021D|NIPBL_uc003jkm.1_Missense_Mutation_p.E900D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1021					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)							934				0.137168	52.160069	80.958398	31	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36986345	36986345	10829	5	G	T	T	T	451	35	NIPBL	2	2
C5orf28	64417	broad.mit.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43446488G>A	uc003jny.2	-	c.484C>T	c.(484-486)CGT>TGT	p.R162C	C5orf28_uc003jnv.3_Missense_Mutation_p.R162C|C5orf28_uc003jnx.2_Missense_Mutation_p.R162C	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	hypothetical protein LOC64417	162						integral to membrane					0	Lung NSC(6;2.07e-05)													0.114865	22.169524	43.798509	17	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43446488	43446488	2387	5	G	A	A	A	481	37	C5orf28	1	1
ADAMTS6	11174	broad.mit.edu	37	5	64511296	64511296	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64511296T>A	uc003jtp.2	-	c.2291A>T	c.(2290-2292)GAT>GTT	p.D764V	ADAMTS6_uc003jto.2_Non-coding_Transcript|ADAMTS6_uc003jtq.2_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.D385V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	764	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)										0.205882	44.008461	52.203426	21	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64511296	64511296	271	5	T	A	A	A	650	50	ADAMTS6	3	3
BDP1	55814	broad.mit.edu	37	5	70800487	70800487	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70800487G>C	uc003kbp.1	+	c.2281G>C	c.(2281-2283)GAA>CAA	p.E761Q	BDP1_uc003kbn.1_Missense_Mutation_p.E761Q|BDP1_uc003kbo.2_Missense_Mutation_p.E761Q	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	761					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)										0.175439	53.026107	64.351444	20	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70800487	70800487	1417	5	G	C	C	C	585	45	BDP1	3	3
MAP1B	4131	broad.mit.edu	37	5	71490888	71490888	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71490888C>A	uc003kbw.3	+	c.1706C>A	c.(1705-1707)ACA>AAA	p.T569K	MAP1B_uc010iyw.1_Missense_Mutation_p.T586K|MAP1B_uc010iyx.1_Missense_Mutation_p.T443K|MAP1B_uc010iyy.1_Missense_Mutation_p.T443K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	569						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		Melanoma(17;367 822 11631 31730 47712)								0.175	15.198635	19.184994	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71490888	71490888	9611	5	C	A	A	A	221	17	MAP1B	2	2
HOMER1	9456	broad.mit.edu	37	5	78697767	78697767	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78697767C>T	uc003kfy.2	-	c.639G>A	c.(637-639)CAG>CAA	p.Q213Q	HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Intron|HOMER1_uc010jad.2_Silent_p.Q39Q	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	213	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)										0.177419	93.929935	118.261348	44	204	KEEP	---	---	---	---	capture		Silent	SNP	78697767	78697767	7570	5	C	T	T	T	363	28	HOMER1	2	2
VCAN	1462	broad.mit.edu	37	5	82816655	82816655	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82816655C>A	uc003kii.3	+	c.2530C>A	c.(2530-2532)CCA>ACA	p.P844T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P844T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	844	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.201342	64.251953	76.621786	30	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82816655	82816655	17703	5	C	A	A	A	286	22	VCAN	2	2
MEF2C	4208	broad.mit.edu	37	5	88100465	88100465	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:88100465T>G	uc003kjl.2	-	c.208A>C	c.(208-210)ACG>CCG	p.T70P	MEF2C_uc003kji.2_Missense_Mutation_p.T70P|MEF2C_uc003kjj.2_Missense_Mutation_p.T70P|MEF2C_uc003kjk.2_Missense_Mutation_p.T70P|MEF2C_uc003kjm.2_Missense_Mutation_p.T70P	NM_001131005	NP_001124477	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 2	70	Mef2-type (Potential).				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	promoter binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)										0.238095	28.934688	31.562061	10	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88100465	88100465	9846	5	T	G	G	G	767	59	MEF2C	4	4
SEMA5A	9037	broad.mit.edu	37	5	9066560	9066560	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9066560C>G	uc003jek.2	-	c.2272G>C	c.(2272-2274)GAC>CAC	p.D758H		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	758	TSP type-1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.165714	66.136205	84.743239	29	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9066560	9066560	14523	5	C	G	G	G	403	31	SEMA5A	3	3
ASCC3	10973	broad.mit.edu	37	6	101075586	101075586	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:101075586T>G	uc003pqk.2	-	c.4522A>C	c.(4522-4524)ATG>CTG	p.M1508L		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1508	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)	5		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)										0.241935	45.795383	49.559649	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101075586	101075586	1051	6	T	G	G	G	650	50	ASCC3	4	4
SLC22A16	85413	broad.mit.edu	37	6	110763979	110763979	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110763979C>A	uc003puf.2	-	c.652_splice	c.e4-1	p.V218_splice	SLC22A16_uc003pue.2_Splice_Site_SNP_p.V199_splice	NM_033125	NP_149116			solute carrier family 22, member 16						acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane|plasma membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)										0.36	105.268857	106.995946	36	64	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	110763979	110763979	14943	6	C	A	A	A	312	24	SLC22A16	5	2
LAMA4	3910	broad.mit.edu	37	6	112493878	112493878	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112493878G>T	uc003pvu.2	-	c.1486C>A	c.(1486-1488)CTT>ATT	p.L496I	LAMA4_uc003pvv.2_Missense_Mutation_p.L489I|LAMA4_uc003pvt.2_Missense_Mutation_p.L489I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	496	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.112782	17.332024	37.015623	15	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112493878	112493878	8931	6	G	T	T	T	455	35	LAMA4	2	2
DSE	29940	broad.mit.edu	37	6	116757588	116757588	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116757588C>T	uc011ebg.1	+	c.2014C>T	c.(2014-2016)CTC>TTC	p.L672F	DSE_uc003pws.2_Missense_Mutation_p.L653F|DSE_uc003pwt.2_Missense_Mutation_p.L653F|DSE_uc003pwu.2_Missense_Mutation_p.L320F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	653					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)										0.440252	234.839136	235.331916	70	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116757588	116757588	4958	6	C	T	T	T	312	24	DSE	2	2
MCM9	254394	broad.mit.edu	37	6	119252870	119252870	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:119252870T>C	uc003pyh.2	-	c.19A>G	c.(19-21)ACA>GCA	p.T7A		NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	7					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)										0.39759	119.764827	120.524286	33	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119252870	119252870	9783	6	T	C	C	C	741	57	MCM9	4	4
CLVS2	134829	broad.mit.edu	37	6	123376978	123376978	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123376978A>C	uc003pzi.1	+	c.703A>C	c.(703-705)AGT>CGT	p.S235R		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	235	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.180556	94.290634	115.015767	39	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123376978	123376978	3710	6	A	C	C	C	91	7	CLVS2	4	4
PTPRK	5796	broad.mit.edu	37	6	128403663	128403663	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128403663T>A	uc011ebu.1	-	c.1696A>T	c.(1696-1698)ACG>TCG	p.T566S	PTPRK_uc003qbj.2_Missense_Mutation_p.T566S|PTPRK_uc010kfc.2_Missense_Mutation_p.T566S|PTPRK_uc003qbk.2_Missense_Mutation_p.T566S|PTPRK_uc003qbl.1_Missense_Mutation_p.T436S|PTPRK_uc011ebv.1_Missense_Mutation_p.T566S	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	566	Extracellular (Potential).|Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)										0.383838	244.368093	246.705435	76	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128403663	128403663	13262	6	T	A	A	A	767	59	PTPRK	3	3
TAAR1	134864	broad.mit.edu	37	6	132967082	132967082	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132967082C>A	uc003qdm.1	-	c.61G>T	c.(61-63)GAT>TAT	p.D21Y		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	21	Extracellular (Potential).					integral to membrane|plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)									0.367647	495.571984	502.913276	175	301	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132967082	132967082	16010	6	C	A	A	A	377	29	TAAR1	2	2
MAP3K5	4217	broad.mit.edu	37	6	136913701	136913701	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136913701C>A	uc003qhc.2	-	c.2930G>T	c.(2929-2931)AGC>ATC	p.S977I	MAP3K5_uc011edj.1_Missense_Mutation_p.S224I|MAP3K5_uc011edk.1_Missense_Mutation_p.S823I	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	977					activation of JUN kinase activity|activation of MAPKK activity|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)						1151				0.149533	26.428562	39.034539	16	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136913701	136913701	9636	6	C	A	A	A	364	28	MAP3K5	2	2
HIVEP2	3097	broad.mit.edu	37	6	143074281	143074281	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:143074281C>A	uc003qjd.2	-	c.7304G>T	c.(7303-7305)AGC>ATC	p.S2435I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	2435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		Esophageal Squamous(107;843 1510 13293 16805 42198)								0.105505	45.931887	113.354806	46	390	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143074281	143074281	7478	6	C	A	A	A	364	28	HIVEP2	2	2
SYNE1	23345	broad.mit.edu	37	6	152651069	152651069	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152651069C>A	uc010kiw.2	-	c.14751G>T	c.(14749-14751)CTG>CTT	p.L4917L	SYNE1_uc003qot.3_Silent_p.L4846L|SYNE1_uc003qou.3_Silent_p.L4917L|SYNE1_uc010kiz.2_Silent_p.L672L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4917	Cytoplasmic (Potential).|Potential.				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)										0.189655	92.965596	113.864458	44	188	KEEP	---	---	---	---	capture		Silent	SNP	152651069	152651069	15966	6	C	A	A	A	314	25	SYNE1	2	2
SYNE1	23345	broad.mit.edu	37	6	152722272	152722272	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152722272C>A	uc010kiw.2	-	c.7029_splice	c.e47+1	p.K2343_splice	SYNE1_uc003qot.3_Splice_Site_SNP_p.K2350_splice|SYNE1_uc003qou.3_Splice_Site_SNP_p.K2343_splice|SYNE1_uc010kjb.1_Splice_Site_SNP_p.K2326_splice	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						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)										0.168421	37.038808	46.930569	16	79	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	152722272	152722272	15966	6	C	A	A	A	234	18	SYNE1	5	2
TIAM2	26230	broad.mit.edu	37	6	155451515	155451515	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155451515G>T	uc003qqb.2	+	c.1158G>T	c.(1156-1158)TGG>TGT	p.W386C	TIAM2_uc003qqe.2_Missense_Mutation_p.W386C	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	386					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)										0.153846	14.108711	21.558528	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155451515	155451515	16419	6	G	T	T	T	533	41	TIAM2	2	2
UNC93A	54346	broad.mit.edu	37	6	167708042	167708042	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167708042C>A	uc003qvq.2	+	c.125C>A	c.(124-126)GCG>GAG	p.A42E	UNC93A_uc003qvr.2_Missense_Mutation_p.A42E	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	42	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.210526	74.247363	86.008111	32	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167708042	167708042	17555	6	C	A	A	A	351	27	UNC93A	1	1
THBS2	7058	broad.mit.edu	37	6	169626293	169626293	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169626293C>A	uc003qwt.2	-	c.2520G>T	c.(2518-2520)CTG>CTT	p.L840L		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	840	TSP type-3 5.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.190476	17.574493	21.336746	8	34	KEEP	---	---	---	---	capture		Silent	SNP	169626293	169626293	16382	6	C	A	A	A	262	21	THBS2	2	2
MRS2	57380	broad.mit.edu	37	6	24403396	24403396	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24403396G>C	uc011djl.1	+	c.122G>C	c.(121-123)CGC>CCC	p.R41P	MRS2_uc003nea.2_Missense_Mutation_p.R41P|MRS2_uc003neb.2_Missense_Mutation_p.R41P|MRS2_uc011djm.1_Non-coding_Transcript|MRS2_uc011djn.1_Missense_Mutation_p.R41P	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor	41					ion transport	integral to membrane|mitochondrial inner membrane					0														0.307692	12.495694	12.923936	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24403396	24403396	10244	6	G	C	C	C	494	38	MRS2	3	3
ZNF187	7741	broad.mit.edu	37	6	28244327	28244327	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28244327C>T	uc011dlc.1	+	c.894C>T	c.(892-894)CTC>CTT	p.L298L	ZNF187_uc011dld.1_Silent_p.L297L|ZNF187_uc003nku.3_Silent_p.L163L|ZNF187_uc003nkw.3_Silent_p.L144L|ZNF187_uc011dle.1_Silent_p.L144L|ZNF187_uc011dlf.1_Silent_p.L89L|ZNF187_uc011dlg.1_Silent_p.L144L	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	zinc finger protein 187 isoform a	297	C2H2-type 2.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.454545	63.798082	63.876823	20	24	KEEP	---	---	---	---	capture		Silent	SNP	28244327	28244327	18344	6	C	T	T	T	392	31	ZNF187	1	1
NOTCH4	4855	broad.mit.edu	37	6	32170317	32170317	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32170317G>T	uc003obb.2	-	c.3291C>A	c.(3289-3291)CAC>CAA	p.H1097Q	NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1097	EGF-like 28.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.6875	36.830229	37.330681	11	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32170317	32170317	10954	6	G	T	T	T	568	44	NOTCH4	2	2
COL11A2	1302	broad.mit.edu	37	6	33144976	33144976	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33144976G>A	uc003ocx.1	-	c.1998C>T	c.(1996-1998)ATC>ATT	p.I666I	COL11A2_uc010jul.1_Missense_Mutation_p.S46L|COL11A2_uc003ocy.1_Silent_p.I580I|COL11A2_uc003ocz.1_Silent_p.I559I	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	666	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.390244	146.733544	148.010469	48	75	KEEP	---	---	---	---	capture		Silent	SNP	33144976	33144976	3806	6	G	A	A	A	473	37	COL11A2	1	1
GRM4	2914	broad.mit.edu	37	6	34003554	34003554	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34003554G>T	uc003oir.3	-	c.2333C>A	c.(2332-2334)CCC>CAC	p.P778H	GRM4_uc011dsn.1_Missense_Mutation_p.P731H|GRM4_uc010jvh.2_Missense_Mutation_p.P778H|GRM4_uc010jvi.2_Missense_Mutation_p.P470H|GRM4_uc003oio.2_Missense_Mutation_p.P470H|GRM4_uc003oip.2_Non-coding_Transcript|GRM4_uc011dsl.1_Missense_Mutation_p.P638H|GRM4_uc003oiq.2_Missense_Mutation_p.P645H|GRM4_uc011dsm.1_Missense_Mutation_p.P609H	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	778	Cytoplasmic (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.5	63.773637	63.773637	21	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34003554	34003554	7078	6	G	T	T	T	559	43	GRM4	2	2
LHFPL5	222662	broad.mit.edu	37	6	35773736	35773737	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35773736_35773737GC>TT	uc003olg.1	+	c.289_290GC>TT	c.(289-291)GCC>TTC	p.A97F		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	97						integral to membrane					0														0.467836	259.131814	259.289411	80	91	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	35773736	35773737	9094	6	GC	TT	TT	TT	598	46	LHFPL5	2	2
FOXP4	116113	broad.mit.edu	37	6	41556419	41556419	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41556419A>G	uc003oql.2	+	c.1015A>G	c.(1015-1017)ACA>GCA	p.T339A	FOXP4_uc003oqm.2_Missense_Mutation_p.T337A|FOXP4_uc003oqn.2_Missense_Mutation_p.T338A	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	339					embryonic foregut morphogenesis|heart development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)													0.392157	201.85056	203.442515	60	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41556419	41556419	6275	6	A	G	G	G	182	14	FOXP4	4	4
PTK7	5754	broad.mit.edu	37	6	43127622	43127622	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43127622G>T	uc011dve.1	+	c.2994G>T	c.(2992-2994)TGG>TGT	p.W998C	PTK7_uc003oub.1_Missense_Mutation_p.W990C|PTK7_uc003ouc.1_Missense_Mutation_p.W934C|PTK7_uc003oud.1_Missense_Mutation_p.W950C|PTK7_uc003oue.1_Missense_Mutation_p.W860C|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Missense_Mutation_p.W316C|PTK7_uc003ouh.1_Missense_Mutation_p.W83C	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	990	Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration|protein phosphorylation	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			large_intestine(1)	1			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)							398				0.422764	155.793908	156.429854	52	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43127622	43127622	13220	6	G	T	T	T	559	43	PTK7	2	2
PKHD1	5314	broad.mit.edu	37	6	51612663	51612663	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51612663C>A	uc003pah.1	-	c.9751G>T	c.(9751-9753)GAA>TAA	p.E3251*	PKHD1_uc010jzn.1_Nonsense_Mutation_p.E1234*|PKHD1_uc003pai.2_Nonsense_Mutation_p.E3251*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3251	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.428571	218.189239	218.969504	75	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51612663	51612663	12396	6	C	A	A	A	416	32	PKHD1	5	2
IL17A	3605	broad.mit.edu	37	6	52054023	52054023	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52054023G>T	uc003pak.1	+	c.401G>T	c.(400-402)CGG>CTG	p.R134L		NM_002190	NP_002181	Q16552	IL17_HUMAN	interleukin 17A precursor	134					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity				0	Lung NSC(77;0.116)													0.411765	112.812023	113.389354	35	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52054023	52054023	7935	6	G	T	T	T	507	39	IL17A	1	1
IL17F	112744	broad.mit.edu	37	6	52103574	52103575	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52103574_52103575TG>AT	uc003pam.1	-	c.207_208CA>AT	c.(205-210)TCCATG>TCATTG	p.M70L	IL17F_uc003pal.1_Missense_Mutation_p.M16L	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	interleukin 17F precursor	70					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			ovary(1)	1	Lung NSC(77;0.116)													0.15942	21.282147	28.905823	11	58	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	52103574	52103575	7939	6	TG	AT	AT	AT	663	51	IL17F	3	3
F13A1	2162	broad.mit.edu	37	6	6305703	6305703	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6305703G>T	uc003mwv.2	-	c.200C>A	c.(199-201)ACT>AAT	p.T67N	F13A1_uc011dib.1_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	67					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.304	104.896542	109.185116	38	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6305703	6305703	5534	6	G	T	T	T	468	36	F13A1	2	2
COL19A1	1310	broad.mit.edu	37	6	70647993	70647993	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70647993G>T	uc003pfc.1	+	c.936_splice	c.e9+1	p.P312_splice	COL19A1_uc010kam.1_Splice_Site_SNP_p.P208_splice	NM_001858	NP_001849			alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.113924	13.915688	25.528272	9	70	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	70647993	70647993	3814	6	G	T	T	T	572	44	COL19A1	5	2
COL12A1	1303	broad.mit.edu	37	6	75875472	75875472	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75875472C>A	uc003phs.2	-	c.2734G>T	c.(2734-2736)GTT>TTT	p.V912F	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	912	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.132948	35.395717	58.032406	23	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75875472	75875472	3807	6	C	A	A	A	260	20	COL12A1	2	2
TTK	7272	broad.mit.edu	37	6	80741183	80741183	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80741183G>T	uc003pjc.2	+	c.1522_splice	c.e14-1	p.V508_splice	TTK_uc003pjb.3_Splice_Site_SNP_p.V507_splice	NM_003318	NP_003309			TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|large_intestine(2)|pancreas(1)	9		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)						471				0.122449	12.523792	26.21133	12	86	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	80741183	80741183	17275	6	G	T	T	T	455	35	TTK	5	2
DOPEY1	23033	broad.mit.edu	37	6	83845498	83845498	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:83845498G>T	uc011dyy.1	+	c.3004G>T	c.(3004-3006)GTA>TTA	p.V1002L	DOPEY1_uc003pjs.1_Missense_Mutation_p.V1011L|DOPEY1_uc010kbl.1_Missense_Mutation_p.V1002L|DOPEY1_uc003pjt.2_5'Flank	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1011					protein transport					ovary(2)|breast(1)	3		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)										0.403101	326.649957	328.767614	104	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83845498	83845498	4891	6	G	T	T	T	468	36	DOPEY1	2	2
KLHL32	114792	broad.mit.edu	37	6	97424052	97424052	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97424052G>T	uc010kcm.1	+	c.203G>T	c.(202-204)CGG>CTG	p.R68L	KLHL32_uc003poy.2_Missense_Mutation_p.R68L|KLHL32_uc011ead.1_Missense_Mutation_p.R68L|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Missense_Mutation_p.R68L	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	68	BTB.									ovary(3)	3		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)										0.38	116.022531	117.286202	38	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97424052	97424052	8699	6	G	T	T	T	507	39	KLHL32	1	1
SFRS18	25957	broad.mit.edu	37	6	99857222	99857222	+	Splice_Site_SNP	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:99857222T>A	uc003ppo.3	-	c.502_splice	c.e6-1	p.H168_splice	SFRS18_uc003ppp.3_Splice_Site_SNP_p.H168_splice|SFRS18_uc011eag.1_Splice_Site_SNP_p.H168_splice|SFRS18_uc003ppr.2_Splice_Site_SNP_p.H168_splice	NM_032870	NP_116259			splicing factor, arginine/serine-rich 130							nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)										0.39	128.805226	129.86444	39	61	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	99857222	99857222	14664	6	T	A	A	A	715	55	SFRS18	5	3
SLC12A9	56996	broad.mit.edu	37	7	100460369	100460369	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100460369A>G	uc003uwp.2	+	c.1778A>G	c.(1777-1779)CAG>CGG	p.Q593R	SLC12A9_uc003uwq.2_Missense_Mutation_p.Q504R|SLC12A9_uc011kki.1_Missense_Mutation_p.Q124R|SLC12A9_uc003uwr.2_Missense_Mutation_p.Q329R|SLC12A9_uc003uws.2_Missense_Mutation_p.Q124R|SLC12A9_uc003uwt.2_Missense_Mutation_p.Q329R|SLC12A9_uc003uwv.2_Missense_Mutation_p.Q124R	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	593	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.359756	161.126414	163.987264	59	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100460369	100460369	14885	7	A	G	G	G	91	7	SLC12A9	4	4
MUC17	140453	broad.mit.edu	37	7	100696350	100696350	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100696350G>T	uc003uxp.1	+	c.13187G>T	c.(13186-13188)GGG>GTG	p.G4396V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4396	Helical; (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.3125	69.73522	72.245275	25	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100696350	100696350	10368	7	G	T	T	T	559	43	MUC17	2	2
NAPEPLD	222236	broad.mit.edu	37	7	102760290	102760290	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:102760290C>G	uc011klj.1	-	c.894G>C	c.(892-894)GAG>GAC	p.E298D	NAPEPLD_uc003vbc.2_Missense_Mutation_p.E225D|NAPEPLD_uc003vbd.2_Missense_Mutation_p.E225D|NAPEPLD_uc003vbe.2_Non-coding_Transcript	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	225					phospholipid catabolic process	membrane	metal ion binding				0														0.176	58.376518	70.74145	22	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102760290	102760290	10559	7	C	G	G	G	415	32	NAPEPLD	3	3
LAMB1	3912	broad.mit.edu	37	7	107569637	107569637	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107569637C>G	uc003vev.2	-	c.4831G>C	c.(4831-4833)GAT>CAT	p.D1611H	LAMB1_uc003vew.2_Missense_Mutation_p.D1587H|LAMB1_uc003veu.2_Missense_Mutation_p.D70H	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1587	Potential.|Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.13617	64.021353	94.172165	32	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107569637	107569637	8933	7	C	G	G	G	416	32	LAMB1	3	3
DOCK4	9732	broad.mit.edu	37	7	111398842	111398842	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111398842C>A	uc003vfy.2	-	c.4275G>T	c.(4273-4275)TTG>TTT	p.L1425F	DOCK4_uc011kml.1_Missense_Mutation_p.L261F|DOCK4_uc011kmm.1_Missense_Mutation_p.L287F|DOCK4_uc003vfw.2_Missense_Mutation_p.L830F|DOCK4_uc003vfx.2_Missense_Mutation_p.L1380F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1380	DHR-2.			YLQ -> CIRTYKGWTQFGTAVITDVGRLGTQIITQIN (in Ref. 3; BAC05221).	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)												0.163265	15.567414	20.847858	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111398842	111398842	4873	7	C	A	A	A	324	25	DOCK4	2	2
TAS2R16	50833	broad.mit.edu	37	7	122635158	122635158	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122635158C>A	uc003vkl.1	-	c.531G>T	c.(529-531)CAG>CAT	p.Q177H		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	177	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|integral to membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)	1														0.343915	195.80307	199.87692	65	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122635158	122635158	16091	7	C	A	A	A	259	20	TAS2R16	2	2
ASB15	142685	broad.mit.edu	37	7	123267186	123267186	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123267186G>T	uc003vku.1	+	c.720G>T	c.(718-720)GCG>GCT	p.A240A	ASB15_uc003vkv.1_Silent_p.A240A|ASB15_uc003vkw.1_Silent_p.A240A	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	240	ANK 4.				intracellular signal transduction					lung(1)	1														0.348485	217.520124	221.529515	69	129	KEEP	---	---	---	---	capture		Silent	SNP	123267186	123267186	1037	7	G	T	T	T	496	39	ASB15	1	1
PRSS37	136242	broad.mit.edu	37	7	141537763	141537763	+	Silent	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141537763G>T	uc003vws.1	-	c.327C>A	c.(325-327)GCC>GCA	p.A109A	PRSS37_uc011krk.1_Silent_p.A96A|PRSS37_uc011krl.1_Silent_p.A109A|PRSS37_uc003vwt.1_Silent_p.A66A	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	protease, serine, 37 precursor	109	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0														0.466667	277.895765	278.085444	91	104	KEEP	---	---	---	---	capture		Silent	SNP	141537763	141537763	13076	7	G	T	T	T	600	47	PRSS37	2	2
OR2A25	392138	broad.mit.edu	37	7	143771977	143771977	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143771977G>T	uc011ktx.1	+	c.665G>T	c.(664-666)TGT>TTT	p.C222F		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.14	48.756956	73.791645	28	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143771977	143771977	11384	7	G	T	T	T	624	48	OR2A25	2	2
NOS3	4846	broad.mit.edu	37	7	150696413	150696413	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150696413G>A	uc003wif.2	+	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T	NOS3_uc011kuy.1_Silent_p.T158T|NOS3_uc011kuz.1_Silent_p.T364T|NOS3_uc011kva.1_Silent_p.T364T|NOS3_uc011kvb.1_Silent_p.T364T	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	364	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)	7	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)				p.T364T(SNU1-Tumor)	755				0.100629	11.880095	37.200409	16	143	KEEP	---	---	---	---	capture		Silent	SNP	150696413	150696413	10947	7	G	A	A	A	470	37	NOS3	1	1
DPP6	1804	broad.mit.edu	37	7	154598762	154598762	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154598762T>A	uc003wlk.2	+	c.1606T>A	c.(1606-1608)TGC>AGC	p.C536S	DPP6_uc003wli.2_Missense_Mutation_p.C472S|DPP6_uc003wlm.2_Missense_Mutation_p.C474S|DPP6_uc011kvq.1_Missense_Mutation_p.C429S	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	536	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			NSCLC(125;1384 1783 2490 7422 34254)								0.35	144.627951	147.40896	49	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154598762	154598762	4914	7	T	A	A	A	715	55	DPP6	3	3
SP4	6671	broad.mit.edu	37	7	21521652	21521652	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21521652G>T	uc003sva.2	+	c.2018G>T	c.(2017-2019)GGA>GTA	p.G673V	SP4_uc003svb.2_Missense_Mutation_p.G360V	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	673					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(3)	3														0.351648	175.841908	179.376206	64	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21521652	21521652	15466	7	G	T	T	T	533	41	SP4	2	2
DNAH11	8701	broad.mit.edu	37	7	21603895	21603895	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21603895C>A	uc003svc.2	+	c.1074C>A	c.(1072-1074)CGC>CGA	p.R358R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	358	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.31	88.185705	91.402903	31	69	KEEP	---	---	---	---	capture		Silent	SNP	21603895	21603895	4781	7	C	A	A	A	314	25	DNAH11	2	2
GPNMB	10457	broad.mit.edu	37	7	23313759	23313759	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23313759C>T	uc003swc.2	+	c.1635C>T	c.(1633-1635)CTC>CTT	p.L545L	GPNMB_uc003swb.2_Silent_p.L533L|GPNMB_uc011jyy.1_Silent_p.L487L|GPNMB_uc011jyz.1_Silent_p.L434L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	545	Cytoplasmic (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)											0.314103	128.911384	133.773549	49	107	KEEP	---	---	---	---	capture		Silent	SNP	23313759	23313759	6894	7	C	T	T	T	366	29	GPNMB	2	2
NPVF	64111	broad.mit.edu	37	7	25266430	25266430	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:25266430C>T	uc003sxo.2	-	c.354G>A	c.(352-354)GTG>GTA	p.V118V		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	118					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			ovary(1)	1														0.144144	49.678945	76.723174	32	190	KEEP	---	---	---	---	capture		Silent	SNP	25266430	25266430	11010	7	C	T	T	T	366	29	NPVF	2	2
HOXA5	3202	broad.mit.edu	37	7	27181683	27181683	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27181683C>A	uc003syn.1	-	c.584G>T	c.(583-585)GGC>GTC	p.G195V		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	195	Homeobox.				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						Colon(119;75 2200 7557 42868)						OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.458333	62.758399	62.82873	22	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27181683	27181683	7587	7	C	A	A	A	338	26	HOXA5	2	2
HOXA5	3202	broad.mit.edu	37	7	27183101	27183102	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27183101_27183102GG>TT	uc003syn.1	-	c.125_126CC>AA	c.(124-126)TCC>TAA	p.S42*		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	42					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						Colon(119;75 2200 7557 42868)								0.196721	27.994756	33.199807	12	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	27183101	27183102	7587	7	GG	TT	TT	TT	496	39	HOXA5	5	1
BBS9	27241	broad.mit.edu	37	7	33423310	33423310	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:33423310G>C	uc003tdn.1	+	c.1822G>C	c.(1822-1824)GAT>CAT	p.D608H	BBS9_uc003tdo.1_Missense_Mutation_p.D573H|BBS9_uc003tdp.1_Missense_Mutation_p.D603H|BBS9_uc003tdq.1_Missense_Mutation_p.D568H|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.D132H|BBS9_uc003tds.1_Missense_Mutation_p.D31H|BBS9_uc003tdt.2_Non-coding_Transcript|BBS9_uc011kao.1_Missense_Mutation_p.D486H	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	608					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(11;0.0894)											0.218182	32.068607	36.09572	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33423310	33423310	1363	7	G	C	C	C	429	33	BBS9	3	3
SFRP4	6424	broad.mit.edu	37	7	37951860	37951860	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37951860C>T	uc003tfo.3	-	c.652G>A	c.(652-654)GTG>ATG	p.V218M		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	218	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0														0.188235	32.846704	40.585346	16	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37951860	37951860	14652	7	C	T	T	T	234	18	SFRP4	2	2
ADCY1	107	broad.mit.edu	37	7	45699649	45699649	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45699649A>G	uc003tne.3	+	c.1316A>G	c.(1315-1317)CAT>CGT	p.H439R	ADCY1_uc003tnd.2_Missense_Mutation_p.H214R	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	439	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)									0.339623	101.66995	104.079015	36	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45699649	45699649	293	7	A	G	G	G	104	8	ADCY1	4	4
ZNF479	90827	broad.mit.edu	37	7	57194386	57194386	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57194386G>T	uc010kzo.2	-	c.79C>A	c.(79-81)CTG>ATG	p.L27M		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.285714	72.995593	77.329786	30	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57194386	57194386	18527	7	G	T	T	T	425	33	ZNF479	2	2
TRIM50	135892	broad.mit.edu	37	7	72727232	72727232	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72727232G>A	uc010lbd.1	-	c.1149C>T	c.(1147-1149)GGC>GGT	p.G383G	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.G383G|TRIM50_uc003txz.1_Silent_p.G382G	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	383	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding				0														0.666667	18.752112	18.973218	6	3	KEEP	---	---	---	---	capture		Silent	SNP	72727232	72727232	17072	7	G	A	A	A	483	38	TRIM50	1	1
COL28A1	340267	broad.mit.edu	37	7	7412815	7412815	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:7412815C>T	uc003src.1	-	c.2722G>A	c.(2722-2724)GAT>AAT	p.D908N	COL28A1_uc011jxe.1_Missense_Mutation_p.D591N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	908	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity				0		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)										0.198113	51.311799	60.306412	21	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7412815	7412815	3824	7	C	T	T	T	416	32	COL28A1	2	2
GNAT3	346562	broad.mit.edu	37	7	80108232	80108232	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:80108232C>T	uc011kgu.1	-	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	129					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1														0.412017	301.16958	302.741344	96	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80108232	80108232	6782	7	C	T	T	T	299	23	GNAT3	1	1
ABCB4	5244	broad.mit.edu	37	7	87049345	87049345	+	Missense_Mutation	SNP	C	A	A	rs8187801	byFrequency;by1000genomes	TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87049345C>A	uc003uiv.1	-	c.2363G>T	c.(2362-2364)CGG>CTG	p.R788L	ABCB4_uc003uiw.1_Missense_Mutation_p.R788L|ABCB4_uc003uix.1_Missense_Mutation_p.R788L	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	788	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		R -> Q.		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.101167	27.12023	67.854197	26	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87049345	87049345	44	7	C	A	A	A	299	23	ABCB4	1	1
STAG3	10734	broad.mit.edu	37	7	99802969	99802969	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99802969C>T	uc003utx.1	+	c.3200C>T	c.(3199-3201)CCT>CTT	p.P1067L	STAG3_uc011kjk.1_Missense_Mutation_p.P1009L|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.P291L	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1067					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(3)|skin(2)|lung(1)|kidney(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)									331				0.403846	135.421047	136.263693	42	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99802969	99802969	15762	7	C	T	T	T	312	24	STAG3	2	2
CTHRC1	115908	broad.mit.edu	37	8	104388028	104388028	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104388028C>T	uc003ylk.2	+	c.213C>T	c.(211-213)GCC>GCT	p.A71A	CTHRC1_uc011lhq.1_Silent_p.A71A	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	71	Collagen-like.					collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)											0.182796	133.661458	168.827478	68	304	KEEP	---	---	---	---	capture		Silent	SNP	104388028	104388028	4169	8	C	T	T	T	262	21	CTHRC1	2	2
RP1L1	94137	broad.mit.edu	37	8	10473996	10473996	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10473996C>A	uc003wtc.2	-	c.711G>T	c.(709-711)GAG>GAT	p.E237D		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	237					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.21519	38.830272	44.746932	17	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10473996	10473996	14012	8	C	A	A	A	311	24	RP1L1	2	2
PINX1	54984	broad.mit.edu	37	8	10622935	10622935	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10622935C>A	uc003wth.2	-	c.963G>T	c.(961-963)AAG>AAT	p.K321N	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	321	Telomerase inhibitory domain (TID).				mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)										0.230769	13.935719	15.663515	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10622935	10622935	12357	8	C	A	A	A	415	32	PINX1	2	2
CSMD3	114788	broad.mit.edu	37	8	113349007	113349007	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113349007C>A	uc003ynu.2	-	c.6893G>T	c.(6892-6894)GGG>GTG	p.G2298V	CSMD3_uc003yns.2_Missense_Mutation_p.G1500V|CSMD3_uc003ynt.2_Missense_Mutation_p.G2258V|CSMD3_uc011lhx.1_Missense_Mutation_p.G2194V|CSMD3_uc003ynw.1_Missense_Mutation_p.G9V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2298	Extracellular (Potential).|CUB 13.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.117021	20.543154	47.679512	22	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113349007	113349007	4087	8	C	A	A	A	286	22	CSMD3	2	2
TRPS1	7227	broad.mit.edu	37	8	116632061	116632061	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116632061C>A	uc003yny.2	-	c.264G>T	c.(262-264)TTG>TTT	p.L88F	TRPS1_uc011lhy.1_Missense_Mutation_p.L79F|TRPS1_uc010mcy.2_Missense_Mutation_p.L75F|TRPS1_uc003ynz.2_Missense_Mutation_p.L75F	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	75					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.495192	316.1429	316.14662	103	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116632061	116632061	17144	8	C	A	A	A	376	29	TRPS1	2	2
ENPP2	5168	broad.mit.edu	37	8	120608213	120608213	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120608213C>A	uc003yos.1	-	c.1002G>T	c.(1000-1002)CCG>CCT	p.P334P	ENPP2_uc003yor.1_5'Flank|ENPP2_uc003yot.1_Intron|ENPP2_uc010mdd.1_Intron	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	autotaxin isoform 1 preproprotein	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)	6	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			Melanoma(20;305 879 2501 4818 31020)								0.471861	349.294443	349.448832	109	122	KEEP	---	---	---	---	capture		Silent	SNP	120608213	120608213	5323	8	C	A	A	A	288	23	ENPP2	1	1
LRRC6	23639	broad.mit.edu	37	8	133650261	133650261	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133650261C>A	uc003ytk.2	-	c.349G>T	c.(349-351)GAG>TAG	p.E117*	LRRC6_uc003ytl.2_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	117						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)											0.480874	259.177209	259.236042	88	95	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	133650261	133650261	9391	8	C	A	A	A	390	30	LRRC6	5	2
FAM135B	51059	broad.mit.edu	37	8	139160791	139160791	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139160791G>A	uc003yuy.2	-	c.3420C>T	c.(3418-3420)CAC>CAT	p.H1140H	FAM135B_uc003yux.2_Silent_p.H1041H|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Silent_p.H702H|FAM135B_uc003yvb.2_Missense_Mutation_p.P668S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1140										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.205882	80.283303	93.881702	35	135	KEEP	---	---	---	---	capture		Silent	SNP	139160791	139160791	5646	8	G	A	A	A	568	44	FAM135B	2	2
TRAPPC9	83696	broad.mit.edu	37	8	141294041	141294041	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141294041T>A	uc003yvh.2	-	c.2355A>T	c.(2353-2355)ACA>ACT	p.T785T	TRAPPC9_uc003yvj.2_Silent_p.T687T|TRAPPC9_uc010mel.1_Silent_p.T108T|TRAPPC9_uc003yvi.1_Silent_p.T678T	NM_031466	NP_113654	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	687					cell differentiation	endoplasmic reticulum|Golgi apparatus					0														0.58	278.323116	279.158157	87	63	KEEP	---	---	---	---	capture		Silent	SNP	141294041	141294041	17009	8	T	A	A	A	704	55	TRAPPC9	3	3
CYP11B1	1584	broad.mit.edu	37	8	143960555	143960555	+	Silent	SNP	G	A	A	rs5284	byFrequency	TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143960555G>A	uc010mey.2	-	c.423C>T	c.(421-423)GAC>GAT	p.D141D	CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxi.2_Silent_p.D96D|CYP11B1_uc003yxj.2_Silent_p.D96D	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	96					aldosterone biosynthetic process|cortisol biosynthetic process|glucose homeostasis|immune response|oxidation-reduction process|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									0.406977	101.617045	102.264431	35	51	KEEP	---	---	---	---	capture		Silent	SNP	143960555	143960555	4310	8	G	A	A	A	516	40	CYP11B1	1	1
SPATC1	375686	broad.mit.edu	37	8	145095304	145095304	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145095304C>T	uc011lkw.1	+	c.706C>T	c.(706-708)CGC>TGC	p.R236C	SPATC1_uc011lkx.1_Missense_Mutation_p.R236C	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	236										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.243243	22.856799	25.080115	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145095304	145095304	15527	8	C	T	T	T	299	23	SPATC1	1	1
CSMD1	64478	broad.mit.edu	37	8	3038656	3038656	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3038656C>G	uc011kwk.1	-	c.5704G>C	c.(5704-5706)GCT>CCT	p.A1902P	CSMD1_uc011kwj.1_Missense_Mutation_p.A1294P|CSMD1_uc003wqe.2_Missense_Mutation_p.A1058P|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1902	Extracellular (Potential).|CUB 11.					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)										0.291667	21.815165	22.748182	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3038656	3038656	4085	8	C	G	G	G	325	25	CSMD1	3	3
TEX15	56154	broad.mit.edu	37	8	30701942	30701942	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30701942G>T	uc003xil.2	-	c.4592C>A	c.(4591-4593)ACA>AAA	p.T1531K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1531										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.245098	203.672802	221.781854	75	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30701942	30701942	16306	8	G	T	T	T	624	48	TEX15	2	2
CSMD1	64478	broad.mit.edu	37	8	3216805	3216805	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3216805C>A	uc011kwk.1	-	c.3176G>T	c.(3175-3177)GGT>GTT	p.G1059V	CSMD1_uc011kwj.1_Missense_Mutation_p.G451V|CSMD1_uc003wqe.2_Missense_Mutation_p.G215V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1059	Sushi 6.|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)										0.214286	27.171947	31.392417	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3216805	3216805	4085	8	C	A	A	A	234	18	CSMD1	2	2
ANK1	286	broad.mit.edu	37	8	41530361	41530361	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41530361C>A	uc003xom.2	-	c.4730G>T	c.(4729-4731)CGT>CTT	p.R1577L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R1536L|ANK1_uc003xoj.2_Missense_Mutation_p.R1536L|ANK1_uc003xok.2_Missense_Mutation_p.R1536L|ANK1_uc003xol.2_Intron	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1536	55 kDa regulatory 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)											0.578947	151.811662	152.225089	44	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41530361	41530361	623	8	C	A	A	A	247	19	ANK1	1	1
ANK1	286	broad.mit.edu	37	8	41550651	41550651	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41550651C>A	uc003xom.2	-	c.3724G>T	c.(3724-3726)GCC>TCC	p.A1242S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.A517S|ANK1_uc003xoi.2_Missense_Mutation_p.A1201S|ANK1_uc003xoj.2_Missense_Mutation_p.A1201S|ANK1_uc003xok.2_Missense_Mutation_p.A1201S|ANK1_uc003xol.2_Missense_Mutation_p.A1201S	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1201					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)											0.496296	199.443098	199.445234	67	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41550651	41550651	623	8	C	A	A	A	351	27	ANK1	1	1
EFCAB1	79645	broad.mit.edu	37	8	49641660	49641660	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:49641660C>A	uc003xqo.2	-	c.517G>T	c.(517-519)GCT>TCT	p.A173S	EFCAB1_uc003xqn.3_Non-coding_Transcript|EFCAB1_uc011ldj.1_Missense_Mutation_p.A121S|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1 isoform a	173	EF-hand 3.						calcium ion binding				0		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)												0.118012	20.507886	43.603738	19	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49641660	49641660	5120	8	C	A	A	A	338	26	EFCAB1	2	2
ST18	9705	broad.mit.edu	37	8	53126806	53126806	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53126806C>T	uc003xqz.2	-	c.12G>A	c.(10-12)GAG>GAA	p.E4E	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_5'UTR|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.E4E|ST18_uc003xrb.2_Silent_p.E4E|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	4						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.43787	247.731617	248.299393	74	95	KEEP	---	---	---	---	capture		Silent	SNP	53126806	53126806	15730	8	C	T	T	T	311	24	ST18	2	2
RGS20	8601	broad.mit.edu	37	8	54866724	54866724	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:54866724G>A	uc003xrp.2	+	c.832G>A	c.(832-834)GAA>AAA	p.E278K	RGS20_uc003xrq.2_Missense_Mutation_p.E163K|RGS20_uc010lye.2_Missense_Mutation_p.E70K|RGS20_uc010lyf.2_Missense_Mutation_p.E42K|RGS20_uc003xrs.2_Missense_Mutation_p.E131K|RGS20_uc003xrt.2_Missense_Mutation_p.E12K	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	278	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)											0.502092	368.501656	368.502616	120	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54866724	54866724	13777	8	G	A	A	A	585	45	RGS20	2	2
C8orf34	116328	broad.mit.edu	37	8	69445253	69445253	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:69445253A>T	uc010lyz.2	+	c.716A>T	c.(715-717)CAG>CTG	p.Q239L	C8orf34_uc010lyy.1_Missense_Mutation_p.Q239L|C8orf34_uc003xyb.2_Missense_Mutation_p.Q214L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	239					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)											0.402878	183.076917	184.222155	56	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69445253	69445253	2532	8	A	T	T	T	91	7	C8orf34	3	3
MMP16	4325	broad.mit.edu	37	8	89209476	89209476	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89209476G>A	uc003yeb.3	-	c.192C>T	c.(190-192)CGC>CGT	p.R64R	MMP16_uc003yec.2_Silent_p.R64R	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	64					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.45977	127.08736	127.210375	40	47	KEEP	---	---	---	---	capture		Silent	SNP	89209476	89209476	10045	8	G	A	A	A	431	34	MMP16	2	2
TMEFF1	8577	broad.mit.edu	37	9	103338820	103338820	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:103338820G>T	uc004bay.1	+	c.1303G>T	c.(1303-1305)GGA>TGA	p.G435*	TMEFF1_uc004baz.1_Nonsense_Mutation_p.G361*|MURC_uc004bba.2_5'Flank	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	361	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)												0.102041	11.106337	34.327168	15	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103338820	103338820	16543	9	G	T	T	T	455	35	TMEFF1	5	2
COL27A1	85301	broad.mit.edu	37	9	116968563	116968563	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116968563C>T	uc011lxl.1	+	c.2255C>T	c.(2254-2256)CCC>CTC	p.P752L	COL27A1_uc004bii.2_Non-coding_Transcript|COL27A1_uc010mvd.1_Missense_Mutation_p.P551L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	752	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.148936	11.288511	16.858739	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116968563	116968563	3823	9	C	T	T	T	286	22	COL27A1	2	2
COL27A1	85301	broad.mit.edu	37	9	117020842	117020842	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117020842C>A	uc011lxl.1	+	c.3163C>A	c.(3163-3165)CCA>ACA	p.P1055T	COL27A1_uc004bii.2_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1055	Pro-rich.|Collagen-like 7.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.309524	36.662542	38.018491	13	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117020842	117020842	3823	9	C	A	A	A	286	22	COL27A1	2	2
DFNB31	25861	broad.mit.edu	37	9	117185751	117185751	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117185751C>T	uc004biz.3	-	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H	DFNB31_uc004bix.2_Missense_Mutation_p.R139H|DFNB31_uc004biy.3_Missense_Mutation_p.R107H|DFNB31_uc004bja.3_Missense_Mutation_p.R490H	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	490					inner ear receptor stereocilium organization|response to stimulus|retina homeostasis|sensory perception of sound|visual perception	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.134921	25.714377	41.975747	17	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117185751	117185751	4634	9	C	T	T	T	351	27	DFNB31	1	1
TNC	3371	broad.mit.edu	37	9	117810677	117810677	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117810677G>T	uc004bjj.3	-	c.4714C>A	c.(4714-4716)CCC>ACC	p.P1572T	TNC_uc010mvf.2_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1572	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.192308	29.266785	36.188959	15	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117810677	117810677	16811	9	G	T	T	T	559	43	TNC	2	2
ASTN2	23245	broad.mit.edu	37	9	119976664	119976664	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119976664C>A	uc004bjs.1	-	c.988G>T	c.(988-990)GAA>TAA	p.E330*	ASTN2_uc004bjr.1_Nonsense_Mutation_p.E330*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.E330*	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	330	Cytoplasmic (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.132979	28.73256	53.354968	25	163	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	119976664	119976664	1084	9	C	A	A	A	390	30	ASTN2	5	2
DBC1	1620	broad.mit.edu	37	9	121929679	121929679	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:121929679C>A	uc004bkc.2	-	c.1969G>T	c.(1969-1971)GTG>TTG	p.V657L		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	657					cell cycle arrest|cell death	cytoplasm	protein binding			ovary(2)|central_nervous_system(2)|large_intestine(1)	5														0.186992	97.28566	119.801103	46	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121929679	121929679	4418	9	C	A	A	A	234	18	DBC1	2	2
TTLL11	158135	broad.mit.edu	37	9	124751595	124751595	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124751595T>C	uc011lyl.1	-	c.1418A>G	c.(1417-1419)AAG>AGG	p.K473R	TTLL11_uc004blr.2_Non-coding_Transcript|TTLL11_uc011lym.1_Missense_Mutation_p.K150R|TTLL11_uc004blt.1_Missense_Mutation_p.K473R|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	473	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0														0.166667	36.81054	45.647032	14	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124751595	124751595	17279	9	T	C	C	C	728	56	TTLL11	4	4
OR1J4	26219	broad.mit.edu	37	9	125281954	125281954	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125281954T>A	uc011lyw.1	+	c.535T>A	c.(535-537)TGT>AGT	p.C179S		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.206897	59.835596	69.070134	24	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125281954	125281954	11367	9	T	A	A	A	715	55	OR1J4	3	3
DNM1	1759	broad.mit.edu	37	9	130985090	130985090	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130985090G>T	uc011mau.1	+	c.1147G>T	c.(1147-1149)GAA>TAA	p.E383*	DNM1_uc010mxr.2_Nonsense_Mutation_p.E383*|DNM1_uc011mat.1_Nonsense_Mutation_p.E383*	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	383					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity|motor activity			ovary(2)	2						GBM(113;146 1575 2722 28670 29921)								0.135135	12.895256	22.455608	10	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130985090	130985090	4853	9	G	T	T	T	533	41	DNM1	5	2
BAT2L1	84726	broad.mit.edu	37	9	134319603	134319603	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134319603C>G	uc004can.3	+	c.501C>G	c.(499-501)TTC>TTG	p.F167L	BAT2L1_uc004cam.1_Missense_Mutation_p.F167L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	167							protein binding				0														0.217391	28.224735	31.611855	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134319603	134319603	1341	9	C	G	G	G	415	32	BAT2L1	3	3
BAT2L1	84726	broad.mit.edu	37	9	134360104	134360104	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134360104G>T	uc004can.3	+	c.5492G>T	c.(5491-5493)CGG>CTG	p.R1831L	BAT2L1_uc004cao.3_Missense_Mutation_p.R1188L|BAT2L1_uc004cap.3_5'Flank|SNORD62A_uc004caq.2_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1831							protein binding				0														0.313433	122.80529	126.954292	42	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134360104	134360104	1341	9	G	T	T	T	507	39	BAT2L1	1	1
KIAA0649	9858	broad.mit.edu	37	9	138376528	138376528	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138376528G>T	uc004cfr.1	+	c.172G>T	c.(172-174)GGG>TGG	p.G58W		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	58						nucleolus	protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)										0.280702	42.268977	44.7381	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138376528	138376528	8494	9	G	T	T	T	507	39	KIAA0649	1	1
SDCCAG3	10807	broad.mit.edu	37	9	139299578	139299578	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139299578C>A	uc004chi.2	-	c.970G>T	c.(970-972)GTT>TTT	p.V324F	SDCCAG3_uc004chj.2_Missense_Mutation_p.V301F|SDCCAG3_uc004chk.2_Missense_Mutation_p.V251F	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	324	Potential.					cytoplasm					0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)										0.22069	76.715436	87.137369	32	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139299578	139299578	14443	9	C	A	A	A	234	18	SDCCAG3	2	2
CNTLN	54875	broad.mit.edu	37	9	17135167	17135167	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:17135167G>C	uc003zmz.2	+	c.104G>C	c.(103-105)CGC>CCC	p.R35P	CNTLN_uc003zmx.3_Missense_Mutation_p.R35P|CNTLN_uc003zmy.2_Missense_Mutation_p.R35P|CNTLN_uc003zmw.1_Missense_Mutation_p.R35P	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	35						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)										0.333333	9.922426	10.143619	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17135167	17135167	3777	9	G	C	C	C	494	38	CNTLN	3	3
ADAMTSL1	92949	broad.mit.edu	37	9	18681848	18681848	+	Silent	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18681848G>C	uc003zne.3	+	c.1380G>C	c.(1378-1380)GTG>GTC	p.V460V	ADAMTSL1_uc003znc.3_Silent_p.V460V	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	460	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4				GBM - Glioblastoma multiforme(50;1.29e-17)										0.156134	78.563469	108.943829	42	227	KEEP	---	---	---	---	capture		Silent	SNP	18681848	18681848	275	9	G	C	C	C	600	47	ADAMTSL1	3	3
IFNA21	3452	broad.mit.edu	37	9	21166379	21166379	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21166379G>A	uc003zom.2	-	c.233C>T	c.(232-234)TCT>TTT	p.S78F		NM_002175	NP_002166	P01568	IFN21_HUMAN	interferon, alpha 21 precursor	78					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)										0.30198	173.489276	180.566566	61	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21166379	21166379	7839	9	G	A	A	A	429	33	IFNA21	2	2
CDKN2A	1029	broad.mit.edu	37	9	21971107	21971107	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21971107T>A	uc003zpl.2	-	c.417A>T	c.(415-417)CGA>CGT	p.R139R	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc003zpk.2_Missense_Mutation_p.D84V|CDKN2A_uc010miu.2_Non-coding_Transcript	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	Error:Variant_position_missing_in_P42771_after_alignment					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(425)|p.D84V(4)|p.H83fs*2(2)|p.E61_L94del(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.D84_F90del(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.D84G(1)		haematopoietic_and_lymphoid_tissue(647)|skin(417)|upper_aerodigestive_tract(405)|central_nervous_system(380)|lung(319)|pancreas(237)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|ovary(76)|soft_tissue(73)|biliary_tract(71)|bone(70)|breast(46)|stomach(44)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|large_intestine(9)|salivary_gland(8)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3636		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)				17	p.D84V(NCIH1703-Tumor)	76	TSP Lung(5;3.83e-07)			0.4	11.898223	11.985598	4	6	KEEP	---	---	---	---	capture		Silent	SNP	21971107	21971107	3290	9	T	A	A	A	754	58	CDKN2A	3	3
ELAVL2	1993	broad.mit.edu	37	9	23692846	23692846	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:23692846C>A	uc003zpu.2	-	c.789G>T	c.(787-789)TTG>TTT	p.L263F	ELAVL2_uc003zps.2_Missense_Mutation_p.L250F|ELAVL2_uc003zpt.2_Missense_Mutation_p.L250F|ELAVL2_uc003zpv.2_Missense_Mutation_p.L263F|ELAVL2_uc003zpw.2_Missense_Mutation_p.L250F	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	263					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)										0.262626	67.900187	72.94968	26	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23692846	23692846	5241	9	C	A	A	A	272	21	ELAVL2	2	2
DOCK8	81704	broad.mit.edu	37	9	286497	286497	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:286497G>C	uc003zgf.2	+	c.193G>C	c.(193-195)GAA>CAA	p.E65Q	DOCK8_uc011lls.1_Missense_Mutation_p.E65Q|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_5'UTR|DOCK8_uc010mgt.2_5'UTR|DOCK8_uc003zgg.2_5'UTR|DOCK8_uc003zgh.2_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	65					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)										0.189189	37.605371	44.293127	14	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	286497	286497	4877	9	G	C	C	C	585	45	DOCK8	3	3
PRSS3	5646	broad.mit.edu	37	9	33797891	33797891	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:33797891A>C	uc003ztj.3	+	c.436A>C	c.(436-438)AAT>CAT	p.N146H	PRSS3_uc003zti.3_Missense_Mutation_p.N103H|PRSS3_uc003ztl.3_Missense_Mutation_p.N89H	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	146	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)											0.15748	47.632006	61.829622	20	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33797891	33797891	13072	9	A	C	C	C	65	5	PRSS3	4	4
DOCK8	81704	broad.mit.edu	37	9	340166	340166	+	Silent	SNP	A	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:340166A>G	uc003zgf.2	+	c.1524A>G	c.(1522-1524)CTA>CTG	p.L508L	DOCK8_uc011lls.1_Silent_p.L508L|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.L440L|DOCK8_uc003zgg.2_Silent_p.L440L|DOCK8_uc003zgh.2_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	508	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)										0.153846	36.049234	47.948957	16	88	KEEP	---	---	---	---	capture		Silent	SNP	340166	340166	4877	9	A	G	G	G	158	13	DOCK8	4	4
ARID3C	138715	broad.mit.edu	37	9	34623960	34623960	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34623960C>A	uc011lon.1	-	c.476G>T	c.(475-477)GGC>GTC	p.G159V		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	159	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)										0.333333	11.001005	11.293714	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34623960	34623960	933	9	C	A	A	A	338	26	ARID3C	2	2
VCP	7415	broad.mit.edu	37	9	35061054	35061054	+	Silent	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35061054G>A	uc003zvy.2	-	c.1317C>T	c.(1315-1317)GCC>GCT	p.A439A	VCP_uc003zvz.2_Non-coding_Transcript|VCP_uc010mkh.1_Silent_p.A108A|VCP_uc010mki.1_Silent_p.A394A	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	439					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.124424	82.199602	141.991957	54	380	KEEP	---	---	---	---	capture		Silent	SNP	35061054	35061054	17705	9	G	A	A	A	496	39	VCP	1	1
UHRF2	115426	broad.mit.edu	37	9	6486881	6486881	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6486881G>T	uc003zjy.2	+	c.1453G>T	c.(1453-1455)GGG>TGG	p.G485W	UHRF2_uc003zjz.2_Non-coding_Transcript|UHRF2_uc003zka.1_Missense_Mutation_p.G262W|UHRF2_uc003zkb.2_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	485	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)										0.185714	28.038305	34.516126	13	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6486881	6486881	17528	9	G	T	T	T	611	47	UHRF2	2	2
GLDC	2731	broad.mit.edu	37	9	6554779	6554779	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6554779C>A	uc003zkc.2	-	c.2205G>T	c.(2203-2205)GTG>GTT	p.V735V		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	735					glycine catabolic process|oxidation-reduction process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.333333	18.116677	18.633953	7	14	KEEP	---	---	---	---	capture		Silent	SNP	6554779	6554779	6701	9	C	A	A	A	262	21	GLDC	2	2
PIP5K1B	8395	broad.mit.edu	37	9	71532569	71532569	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71532569G>T	uc004agu.2	+	c.877G>T	c.(877-879)GAT>TAT	p.D293Y	PIP5K1B_uc011lrq.1_Missense_Mutation_p.D293Y|PIP5K1B_uc004agv.2_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	293	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding				0				Lung(182;0.133)						223				0.202614	129.556447	154.713517	62	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71532569	71532569	12364	9	G	T	T	T	585	45	PIP5K1B	2	2
PTPRD	5789	broad.mit.edu	37	9	8486068	8486068	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8486068C>T	uc003zkk.2	-	c.2749G>A	c.(2749-2751)GTA>ATA	p.V917I	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.V908I|PTPRD_uc003zkm.2_Missense_Mutation_p.V904I|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	917	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.300971	87.182187	90.828031	31	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8486068	8486068	13256	9	C	T	T	T	260	20	PTPRD	2	2
SHC3	53358	broad.mit.edu	37	9	91653014	91653014	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:91653014C>A	uc004aqg.2	-	c.1550G>T	c.(1549-1551)GGA>GTA	p.G517V		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	517	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4														0.183333	103.540373	131.789813	55	245	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91653014	91653014	14764	9	C	A	A	A	390	30	SHC3	2	2
ROR2	4920	broad.mit.edu	37	9	94486620	94486620	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94486620G>A	uc004arj.1	-	c.2156C>T	c.(2155-2157)GCC>GTC	p.A719V	ROR2_uc004ari.1_Missense_Mutation_p.A579V	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	719	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(6)|central_nervous_system(5)|ovary(3)|large_intestine(2)	16										461				0.163265	15.26997	20.54865	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94486620	94486620	14006	9	G	A	A	A	546	42	ROR2	2	2
ECM2	1842	broad.mit.edu	37	9	95285068	95285068	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95285068C>T	uc004ash.2	-	c.81G>A	c.(79-81)AGG>AGA	p.R27R	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.R27R|ECM2_uc011lty.1_Silent_p.R27R|ECM2_uc004asg.2_Silent_p.R27R|ECM2_uc011ltz.1_Silent_p.R27R|ECM2_uc004asi.2_Silent_p.R27R	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	27					cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2														0.182927	61.939522	77.442413	30	134	KEEP	---	---	---	---	capture		Silent	SNP	95285068	95285068	5085	9	C	T	T	T	389	30	ECM2	2	2
ZNF322B	387328	broad.mit.edu	37	9	99961594	99961594	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:99961594C>A	uc004axd.1	-	c.200G>T	c.(199-201)GGG>GTG	p.G67V	ZNF322B_uc004axc.1_5'Flank	NM_199005	NP_945356	Q5SYY0	Z322B_HUMAN	zinc finger protein 322B	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.158)												0.191436	168.352406	203.681996	76	321	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99961594	99961594	18434	9	C	A	A	A	286	22	ZNF322B	2	2
SERPINA7	6906	broad.mit.edu	37	X	105280957	105280957	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105280957A>T	uc004eme.1	-	c.93T>A	c.(91-93)CAT>CAA	p.H31Q	SERPINA7_uc010npd.2_Missense_Mutation_p.H31Q|SERPINA7_uc010npe.1_Missense_Mutation_p.H31Q	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	31				CH -> DS (in Ref. 7; AA sequence).	regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)									0.32636	236.873593	243.26294	78	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105280957	105280957	14582	23	A	T	T	T	50	4	SERPINA7	3	3
MID2	11043	broad.mit.edu	37	X	107084577	107084577	+	Nonsense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107084577C>T	uc004enl.2	+	c.682C>T	c.(682-684)CAG>TAG	p.Q228*	MID2_uc004enk.2_Nonsense_Mutation_p.Q228*	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	228	B box-type 2.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1														0.15625	33.909813	48.356721	20	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	107084577	107084577	9968	23	C	T	T	T	377	29	MID2	5	2
COL4A5	1287	broad.mit.edu	37	X	107802372	107802372	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107802372C>T	uc004enz.1	+	c.220C>T	c.(220-222)CGG>TGG	p.R74W	COL4A5_uc011mso.1_Missense_Mutation_p.R74W	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	74	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.181208	57.652586	71.870557	27	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107802372	107802372	3832	23	C	T	T	T	399	31	COL4A5	1	1
TRPC5	7224	broad.mit.edu	37	X	111097033	111097033	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111097033G>T	uc004epl.1	-	c.1202C>A	c.(1201-1203)ACT>AAT	p.T401N	TRPC5_uc004epm.1_Missense_Mutation_p.T401N	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	401	Helical; (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.325758	124.177757	127.734223	43	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111097033	111097033	17133	23	G	T	T	T	468	36	TRPC5	2	2
SLC6A14	11254	broad.mit.edu	37	X	115590106	115590106	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:115590106C>T	uc004eqi.2	+	c.1914C>T	c.(1912-1914)AGC>AGT	p.S638S		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid	638	Cytoplasmic (Potential).				cellular amino acid metabolic process|response to toxin	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)									0.375	129.856979	131.616612	48	80	KEEP	---	---	---	---	capture		Silent	SNP	115590106	115590106	15174	23	C	T	T	T	324	25	SLC6A14	2	2
WDR44	54521	broad.mit.edu	37	X	117532434	117532434	+	Splice_Site_SNP	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117532434G>C	uc004eqn.2	+	c.1274_splice	c.e8+1	p.T425_splice	WDR44_uc004eqo.2_Splice_Site_SNP_p.T425_splice|WDR44_uc011mtr.1_Splice_Site_SNP_p.T400_splice|WDR44_uc010nqi.2_Splice_Site_SNP_p.T135_splice	NM_019045	NP_061918			WD repeat domain 44 protein							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|ovary(1)|pancreas(1)	4														0.360825	122.902175	124.554553	35	62	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	117532434	117532434	17869	23	G	C	C	C	520	40	WDR44	5	3
THOC2	57187	broad.mit.edu	37	X	122747510	122747510	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:122747510C>A	uc004etu.2	-	c.4499G>T	c.(4498-4500)CGT>CTT	p.R1500L	THOC2_uc004etv.3_5'Flank|THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.R321L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1500	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3														0.324706	424.610816	436.195974	138	287	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122747510	122747510	16393	23	C	A	A	A	247	19	THOC2	1	1
FRMD7	90167	broad.mit.edu	37	X	131261870	131261870	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:131261870C>T	uc004ewn.2	-	c.3G>A	c.(1-3)ATG>ATA	p.M1I	FRMD7_uc011muy.1_Missense_Mutation_p.M1I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	1					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.383178	111.067977	112.340794	41	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131261870	131261870	6305	23	C	T	T	T	325	25	FRMD7	2	2
SAGE1	55511	broad.mit.edu	37	X	134993770	134993770	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134993770G>T	uc004ezh.2	+	c.2179G>T	c.(2179-2181)GAG>TAG	p.E727*	SAGE1_uc010nry.1_Nonsense_Mutation_p.E696*|SAGE1_uc011mvv.1_Nonsense_Mutation_p.E351*	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	727										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.303704	204.227211	213.525176	82	188	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134993770	134993770	14289	23	G	T	T	T	533	41	SAGE1	5	2
SLITRK4	139065	broad.mit.edu	37	X	142716612	142716612	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142716612G>T	uc004fbx.2	-	c.2313C>A	c.(2311-2313)AGC>AGA	p.S771R	SLITRK4_uc004fby.2_Missense_Mutation_p.S771R	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	771	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.343972	279.892029	285.95464	97	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142716612	142716612	15243	23	G	T	T	T	594	46	SLITRK4	2	2
PRRG3	79057	broad.mit.edu	37	X	150869017	150869017	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150869017G>C	uc004few.1	+	c.208G>C	c.(208-210)GTC>CTC	p.V70L		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	70	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.352025	386.642127	392.857295	113	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150869017	150869017	13056	23	G	C	C	C	624	48	PRRG3	3	3
FLNA	2316	broad.mit.edu	37	X	153590122	153590122	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153590122C>A	uc004fkk.2	-	c.2860G>T	c.(2860-2862)GAT>TAT	p.D954Y	FLNA_uc010nuu.1_Missense_Mutation_p.D954Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	954	Filamin 7.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	actin cytoskeleton|cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)									518				0.328358	48.214146	49.971452	22	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153590122	153590122	6175	23	C	A	A	A	390	30	FLNA	2	2
BEND2	139105	broad.mit.edu	37	X	18234842	18234842	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18234842T>C	uc004cyj.3	-	c.37A>G	c.(37-39)ATA>GTA	p.I13V	BEND2_uc010nfb.2_Missense_Mutation_p.I13V	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	13										ovary(3)|kidney(1)|central_nervous_system(1)	5														0.333333	44.765896	45.723372	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18234842	18234842	1421	23	T	C	C	C	637	49	BEND2	4	4
SCML2	10389	broad.mit.edu	37	X	18276282	18276282	+	Silent	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18276282C>A	uc004cyl.2	-	c.1155G>T	c.(1153-1155)CCG>CCT	p.P385P	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.P385P|SCML2_uc011miz.1_Silent_p.P319P|SCML2_uc010nfc.2_Silent_p.P121P	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	385					anatomical structure morphogenesis|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					Esophageal Squamous(100;1252 1965 19021 35517)								0.382114	146.070288	147.541705	47	76	KEEP	---	---	---	---	capture		Silent	SNP	18276282	18276282	14392	23	C	A	A	A	288	23	SCML2	1	1
MAGEB3	4114	broad.mit.edu	37	X	30254106	30254106	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30254106C>G	uc004dca.1	+	c.65C>G	c.(64-66)ACC>AGC	p.T22S		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	22											0														0.208333	43.688915	49.35724	15	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30254106	30254106	9558	23	C	G	G	G	234	18	MAGEB3	3	3
MXRA5	25878	broad.mit.edu	37	X	3240858	3240858	+	Silent	SNP	T	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3240858T>A	uc004crg.3	-	c.2868A>T	c.(2866-2868)ACA>ACT	p.T956T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	956						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.271429	52.789587	56.091851	19	51	KEEP	---	---	---	---	capture		Silent	SNP	3240858	3240858	10397	23	T	A	A	A	652	51	MXRA5	3	3
FAM47A	158724	broad.mit.edu	37	X	34149849	34149849	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34149849G>T	uc004ddg.2	-	c.547C>A	c.(547-549)CCC>ACC	p.P183T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	183	Pro-rich.									ovary(4)|central_nervous_system(1)	5														0.370968	61.605855	62.513857	23	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34149849	34149849	5790	23	G	T	T	T	533	41	FAM47A	2	2
CXorf36	79742	broad.mit.edu	37	X	45013320	45013320	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:45013320C>T	uc004dgg.2	-	c.796G>A	c.(796-798)GAC>AAC	p.D266N		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	266						extracellular region				lung(1)	1														0.145455	27.939943	41.228902	16	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45013320	45013320	4267	23	C	T	T	T	403	31	CXorf36	1	1
CCNB3	85417	broad.mit.edu	37	X	50052963	50052963	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50052963G>T	uc004dox.3	+	c.1794G>T	c.(1792-1794)ATG>ATT	p.M598I	CCNB3_uc004doy.2_Missense_Mutation_p.M598I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	598					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.232143	31.364389	35.032947	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50052963	50052963	3041	23	G	T	T	T	624	48	CCNB3	2	2
DGKK	139189	broad.mit.edu	37	X	50134575	50134575	+	Splice_Site_SNP	SNP	C	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50134575C>G	uc010njr.1	-	c.1705_splice	c.e11-1	p.C569_splice		NM_001013742	NP_001013764			diacylglycerol kinase kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)													0.223684	47.733258	53.067892	17	59	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	50134575	50134575	4651	23	C	G	G	G	260	20	DGKK	5	3
SHROOM4	57477	broad.mit.edu	37	X	50350458	50350458	+	Silent	SNP	C	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50350458C>T	uc004dpe.2	-	c.3684G>A	c.(3682-3684)GAG>GAA	p.E1228E	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1228	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.315068	67.497014	69.718881	23	50	KEEP	---	---	---	---	capture		Silent	SNP	50350458	50350458	14791	23	C	T	T	T	363	28	SHROOM4	2	2
IQSEC2	23096	broad.mit.edu	37	X	53280025	53280025	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53280025C>A	uc004dsd.2	-	c.1733G>T	c.(1732-1734)TGC>TTC	p.C578F	IQSEC2_uc004dsc.2_Missense_Mutation_p.C373F	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	568	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3														0.571429	24.80071	24.862791	8	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53280025	53280025	8121	23	C	A	A	A	325	25	IQSEC2	2	2
LPAR4	2846	broad.mit.edu	37	X	78010479	78010479	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78010479A>C	uc010nme.2	+	c.113A>C	c.(112-114)AAG>ACG	p.K38T		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	38	Extracellular (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3														0.196286	194.629298	227.034521	74	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78010479	78010479	9280	23	A	C	C	C	39	3	LPAR4	4	4
DACH2	117154	broad.mit.edu	37	X	85950086	85950086	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:85950086C>A	uc004eew.2	+	c.835C>A	c.(835-837)CAA>AAA	p.Q279K	DACH2_uc004eex.2_Missense_Mutation_p.Q266K|DACH2_uc010nmq.2_Missense_Mutation_p.Q145K|DACH2_uc011mra.1_Missense_Mutation_p.Q112K|DACH2_uc010nmr.2_Missense_Mutation_p.Q60K	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5														0.283333	46.454891	48.981389	17	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85950086	85950086	4387	23	C	A	A	A	273	21	DACH2	2	2
DACH2	117154	broad.mit.edu	37	X	86068172	86068172	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86068172G>T	uc004eew.2	+	c.1429G>T	c.(1429-1431)GAG>TAG	p.E477*	DACH2_uc004eex.2_Nonsense_Mutation_p.E464*|DACH2_uc010nmq.2_Nonsense_Mutation_p.E343*|DACH2_uc011mra.1_Nonsense_Mutation_p.E310*|DACH2_uc010nmr.2_Nonsense_Mutation_p.E258*|DACH2_uc004eey.2_Nonsense_Mutation_p.E170*|DACH2_uc004eez.2_Nonsense_Mutation_p.E160*	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	477	Potential.|DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5														0.394737	43.016981	43.385431	15	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86068172	86068172	4387	23	G	T	T	T	533	41	DACH2	5	2
MRPS35	60488	broad.mit.edu	37	12	27869349	27869349	+	Frame_Shift_Del	DEL	G	-	-			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:27869349_27869349delG	uc001rih.2	+	c.279_279delG	c.(277-279)AAGfs	p.K93fs	MRPS35_uc001rii.2_Frame_Shift_Del_p.K93fs	NM_021821	NP_068593	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35 precursor	93					DNA damage response, detection of DNA damage|peptide biosynthetic process	mitochondrial small ribosomal subunit					0	Lung SC(9;0.0873)													0.42			67	91		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	27869349	27869349	10237	12	G	-	-	-	451	35	MRPS35	5	5
CARD8	22900	broad.mit.edu	37	19	48733782	48733783	+	Frame_Shift_Ins	INS	-	G	G			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48733782_48733783insG	uc010xzk.1	-	c.704_705insC	c.(703-705)ACTfs	p.T235fs	CARD8_uc002pii.3_Frame_Shift_Ins_p.T316fs|CARD8_uc010xzi.1_Frame_Shift_Ins_p.T211fs|CARD8_uc010els.2_Frame_Shift_Ins_p.T249fs|CARD8_uc010xzj.1_Frame_Shift_Ins_p.T316fs|CARD8_uc002pie.3_Frame_Shift_Ins_p.T210fs|CARD8_uc002pif.3_Frame_Shift_Ins_p.T210fs|CARD8_uc002pig.3_Frame_Shift_Ins_p.T41fs|CARD8_uc002pih.3_Frame_Shift_Ins_p.T266fs|CARD8_uc010xzl.1_Frame_Shift_Ins_p.T266fs|CARD8_uc010xzm.1_Frame_Shift_Ins_p.T316fs	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	210					apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)										0.38			32	53		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	48733782	48733783	2770	19	-	G	G	G	28	3	CARD8	5	5
SAPS1	22870	broad.mit.edu	37	19	55751401	55751401	+	Frame_Shift_Del	DEL	C	-	-			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55751401_55751401delC	uc002qjv.2	-	c.1629_1629delG	c.(1627-1629)GGGfs	p.G543fs	SAPS1_uc002qjw.3_Frame_Shift_Del_p.G481fs	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	481					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	55751401	55751401	14317	19	C	-	-	-	327	26	SAPS1	5	5
KIAA1109	84162	broad.mit.edu	37	4	123167293	123167309	+	Splice_Site_Del	DEL	TACGATCTTTTTAGTTA	-	-			TCGA-38-4625-01	TCGA-38-4625-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123167293_123167309delTACGATCTTTTTAGTTA	uc003ieh.2	+	c.5038_splice	c.e31-1	p.L1680_splice	KIAA1109_uc003iek.2_Splice_Site_Del_p.L299_splice	NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.32			22	46		---	---	---	---	capture_indel		Splice_Site_Del	DEL	123167293	123167309	8516	4	TACGATCTTTTTAGTTA	-	-	-	781	61	KIAA1109	5	5
